cyp-44A1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable heme binding activity; iron ion binding activity; and oxidoreductase activity. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); and lipid storage disease (multiple). Is an ortholog of human CYP24A1 (cytochrome P450 family 24 subfamily A member 1).
gst-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable glutathione dehydrogenase (ascorbate) activity and glutathione transferase activity. Involved in response to reactive oxygen species. Predicted to be located in cytoplasm. Expressed in excretory cell. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; and asthma. Is an ortholog of human GSTO1 (glutathione S-transferase omega 1) and GSTO2 (glutathione S-transferase omega 2).
C54G4.4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enriched in several structures, including ABalaapppa; ABalapaaaa; RIA; arcade cell; and pharynx based on microarray and single-cell RNA-seq studies. Is affected by several genes including
daf-16;
daf-2; and
skn-1 based on RNA-seq and microarray studies. Is affected by sixteen chemicals including stavudine; Zidovudine; and Sodium Chloride based on RNA-seq and microarray studies. Is predicted to encode a protein with the following domains: Galactose-binding-like domain superfamily; C-type lectin fold; Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like.
spe-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in positive regulation of transcription by RNA polymerase II and spermatogenesis. Located in autosome. Expressed in germ line; sperm; and in male. Is an ortholog of human GMEB1 (glucocorticoid modulatory element binding protein 1) and GMEB2 (glucocorticoid modulatory element binding protein 2).
C23G10.7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable tRNA (uracil) methyltransferase activity. Predicted to be involved in tRNA methylation. Predicted to be located in cytoplasm. Is an ortholog of human TRMT44 (tRNA methyltransferase 44 homolog).
cfh-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enriched in anterior hypodermis; dopaminergic neurons; head neurons; interfacial epithelial cell; and intestine based on Chronogram; tiling array; RNA-seq; single-cell RNA-seq; and microarray studies. Is affected by several genes including
daf-2;
daf-12; and
rrf-3 based on microarray; tiling array; and RNA-seq studies. Is affected by sixteen chemicals including hydrogen sulfide; D-glucose; and stavudine based on microarray and RNA-seq studies. Human ortholog(s) of this gene implicated in malaria. Human CR1 enables complement receptor activity and opsonin binding activity. Is predicted to encode a protein with the following domains: Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; and Sushi/SCR/CCP superfamily. Is an ortholog of human CR1 (complement C3b/C4b receptor 1 (Knops blood group)).
egl-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and transcription coactivator binding activity. Involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of RNA polymerase II transcription regulator complex. Expressed in several structures, including anterior hypodermis; body wall musculature; ganglia; neurons; and pharynx. Human ortholog(s) of this gene implicated in Sveinsson chorioretinal atrophy. Is an ortholog of human TEAD2 (TEA domain transcription factor 2) and TEAD4 (TEA domain transcription factor 4).
CJA01553 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Is predicted to encode a protein with the following domains: Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; and Uncharacterized protein F26C11.3-like. Is an ortholog of C. elegans F26C11.3.
OVOC3526 [Browse genome (BioProject PRJEB513)] [Search on AGR]
Onchocerca volvulus Is predicted to encode a protein with the following domains: Notch domain; Sushi repeat (SCR repeat); Myxococcus cysteine-rich repeat; Sushi/SCR/CCP domain; and Sushi/SCR/CCP superfamily. Is an ortholog of B. malayi Bm9784.
erp-44.3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding. Predicted to be located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment. Is an ortholog of human ERP44 (endoplasmic reticulum protein 44).
F13G3.7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable branched-chain amino acid transmembrane transporter activity. Predicted to be involved in branched-chain amino acid transport. Predicted to be located in mitochondrion. Is an ortholog of human SLC25A44 (solute carrier family 25 member 44).
erp-44.1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding. Predicted to be located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment. Is an ortholog of human ERP44 (endoplasmic reticulum protein 44).
erp-44.2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding. Predicted to be located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment. Is an ortholog of human ERP44 (endoplasmic reticulum protein 44).
Y43C5B.3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable branched-chain amino acid transmembrane transporter activity. Predicted to be involved in branched-chain amino acid transport. Predicted to be located in mitochondrion. Is an ortholog of human SLC25A44 (solute carrier family 25 member 44).
Bm11051 [Browse genome (BioProject PRJNA10729)] [Search on AGR]
Brugia malayi Enriched in reproductive tract based on proteomic studies. Is predicted to encode a protein with the following domains: Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; and Sushi/SCR/CCP superfamily. Is an ortholog of O. volvulus OVOC12109.
CJA34708 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Is predicted to encode a protein with the following domains: C-type lectin fold; Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; and C-type lectin-like/link domain superfamily. Is an ortholog of C. elegans C54G4.4.
PPA33794 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Is predicted to encode a protein with the following domains: C-type lectin fold; Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; and C-type lectin-like/link domain superfamily. Is an ortholog of C. elegans C54G4.4.
Bm9776 [Browse genome (BioProject PRJNA10729)] [Search on AGR]
Brugia malayi Is affected by ivermectin based on RNA-seq studies. Is predicted to encode a protein with the following domains: Sushi repeat (SCR repeat); Sushi/SCR/CCP domain; and Sushi/SCR/CCP superfamily. Is an ortholog of O. volvulus OVOC3613; OVOC3499; and OVOC3496.
CJA13270 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Is predicted to encode a protein with the following domains: C-type lectin fold; Sushi repeat (SCR repeat); Lectin C-type domain; Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like. Is an ortholog of C. elegans C54G4.4.
rga-8 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable GTPase activator activity. Predicted to be involved in regulation of Rac protein signal transduction and regulation of actin cytoskeleton organization. Is an ortholog of human ARHGAP17 (Rho GTPase activating protein 17); ARHGAP44 (Rho GTPase activating protein 44); and SH3BP1 (SH3 domain binding protein 1).
lin-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable cytokine activity and frizzled binding activity. Involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization. Predicted to be located in extracellular space. Expressed in several structures, including P6.pa; P6.pp; anchor cell; rectal epithelial cell; and tail. Human ortholog(s) of this gene implicated in several diseases, including Schopf-Schulz-Passarge syndrome; carcinoma (multiple); and split hand-foot malformation 6. Is an ortholog of several human genes including WNT10B (Wnt family member 10B); WNT11 (Wnt family member 11); and WNT9B (Wnt family member 9B).
SRAE_2000182100 [Browse genome (BioProject PRJEB125)] [Search on AGR]
Strongyloides ratti Is predicted to encode a protein with the following domains: Galactose-binding-like domain superfamily; C-type lectin fold; Sushi repeat (SCR repeat); Lectin C-type domain; Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like. Is an ortholog of C. elegans C54G4.4.
chtl-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Expressed in germ line. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 72. Is an ortholog of human SLC44A2 (solute carrier family 44 member 2 (CTL2 blood group)).
CBN31973 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Is predicted to encode a protein with the following domains: Galactose-binding-like domain superfamily; C-type lectin fold; Sushi repeat (SCR repeat); Lectin C-type domain; Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like. Is an ortholog of C. elegans C54G4.4.
CBN18699 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Is predicted to encode a protein with the following domains: Galactose-binding-like domain superfamily; C-type lectin fold; Sushi repeat (SCR repeat); Lectin C-type domain; Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like. Is an ortholog of C. elegans C54G4.4.
CBG08236 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Is predicted to encode a protein with the following domains: Galactose-binding-like domain superfamily; C-type lectin fold; Sushi repeat (SCR repeat); Lectin C-type domain; Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like. Is an ortholog of C. elegans C54G4.4.
CRE22097 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Is predicted to encode a protein with the following domains: Galactose-binding-like domain superfamily; C-type lectin fold; Sushi repeat (SCR repeat); Lectin C-type domain; Sushi/SCR/CCP domain; Sushi/SCR/CCP superfamily; C-type lectin-like/link domain superfamily; and C-type lectin-like. Is an ortholog of C. elegans C54G4.4.
CRE29561 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Is predicted to encode a protein with the following domains: Concanavalin A-like lectin/glucanase domain superfamily; HYR domain; Sushi/SCR/CCP domain; Growth factor receptor cysteine-rich domain superfamily; Follistatin-like, N-terminal; Sushi/SCR/CCP superfamily; EGF-like domain; and Tyrosine-protein kinase ephrin type A/B receptor-like. Is an ortholog of C. elegans F55H12.3.
nekl-4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in regulation of cell cycle G2/M phase transition. Expressed in PQR; amphid neurons; ciliated neurons; and phasmid neurons. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 44. Is an ortholog of human NEK10 (NIMA related kinase 10).
tin-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable protein-folding chaperone binding activity. Predicted to be involved in protein import into mitochondrial matrix. Predicted to be located in mitochondrial inner membrane. Expressed in tail. Human ortholog(s) of this gene implicated in proliferative diabetic retinopathy. Is an ortholog of human TIMM44 (translocase of inner mitochondrial membrane 44).
his-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Involved in innate immune response. Predicted to be part of nucleosome. Is an ortholog of several human genes including H2BC12 (H2B clustered histone 12); H2BC17 (H2B clustered histone 17); and H2BC3 (H2B clustered histone 3).
PPA15173 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Is predicted to encode a protein with the following domains: C-type lectin fold; Sushi repeat (SCR repeat); C-type lectin-like/link domain superfamily; Sushi/SCR/CCP domain; Growth factor receptor cysteine-rich domain superfamily; Low-density lipoprotein receptor domain class A; Sushi/SCR/CCP superfamily; EGF-like domain; Low-density lipoprotein (LDL) receptor class A repeat; C-type lectin-like; and LDL receptor-like superfamily. Is an ortholog of C. elegans F55H12.3.
CBN12080 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to be involved in signal transduction. Is an ortholog of C. elegans
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
Cbr-unc-44 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Predicted to be involved in signal transduction. Is an ortholog of C. elegans
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
C16h19orf44 [Search on AGR]
Rattus norvegicus Orthologous to human C19orf44 (chromosome 19 open reading frame 44); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cadmium dichloride; gentamycin.
Cjp-unc-44 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Predicted to be involved in signal transduction. Is an ortholog of C. elegans
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
Ppa-unc-44 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Predicted to be involved in signal transduction. Is an ortholog of C. elegans
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
CBN24531 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Predicted to be part of nucleosome. Is an ortholog of C. elegans
his-44. In C. elegans,
his-44 is involved in innate immune response.
CBN25930 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Predicted to be part of nucleosome. Is an ortholog of C. elegans
his-44. In C. elegans,
his-44 is involved in innate immune response.
uba-5 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables UFM1 activating enzyme activity and ubiquitin conjugating enzyme binding activity. Involved in determination of adult lifespan; reproduction; and stress response to metal ion. Predicted to be located in cytosol. Used to study early infantile epileptic encephalopathy. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 24 and developmental and epileptic encephalopathy 44. Is an ortholog of human UBA5 (ubiquitin like modifier activating enzyme 5).
CBN26123 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Predicted to be part of nucleosome. Is an ortholog of C. elegans
his-44. In C. elegans,
his-44 is involved in innate immune response.
Cbn-unc-44 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to be involved in signal transduction. Is an ortholog of C. elegans F22G12.4 and
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
egl-46 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including detection of chemical stimulus; generation of neurons; and positive regulation of exit from mitosis. Located in nucleus. Expressed in several structures, including QL.aa; QL.pp; QR.aa; QR.pp; and neurons. Is an ortholog of human INSM2 (INSM transcriptional repressor 2).
Rnf44 [Search on AGR]
Rattus norvegicus Predicted to enable metal ion binding activity. Orthologous to human RNF44 (ring finger protein 44); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; acetamide.
Prss44 [Search on AGR]
Rattus norvegicus Predicted to be located in cytoplasm. Orthologous to human PRSS44P (serine protease 44, pseudogene); INTERACTS WITH bisphenol A; trichloroethene; 1,2-dichloroethane (ortholog).
Tex44 [Search on AGR]
Rattus norvegicus Predicted to be located in cytoplasm. Orthologous to human TEX44 (testis expressed 44); INTERACTS WITH bisphenol A; atrazine (ortholog); benzo[a]pyrene (ortholog).
Cre-egl-44 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
Ovo-lin-44 [Browse genome (BioProject PRJEB513)] [Search on AGR]
Onchocerca volvulus Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
TMUE_1000003538 [Browse genome (BioProject PRJEB126)] [Search on AGR]
Trichuris muris Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
Ankrd44 [Search on AGR]
Rattus norvegicus Predicted to be located in membrane. Orthologous to human ANKRD44 (ankyrin repeat domain 44); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.
Bma-lin-44 [Browse genome (BioProject PRJNA10729)] [Search on AGR]
Brugia malayi Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
Cbn-lin-44.1 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
Cbn-lin-44.2 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
TMUE_1000003684 [Browse genome (BioProject PRJEB126)] [Search on AGR]
Trichuris muris Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
Cbr-lin-44 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
Cjp-lin-44 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
SRAE_2000097900 [Browse genome (BioProject PRJEB125)] [Search on AGR]
Strongyloides ratti Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
sax-7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables ankyrin binding activity. Involved in several processes, including cell development; establishment of mitotic spindle orientation; and regulation of cell morphogenesis. Located in several cellular components, including axolemma; lateral plasma membrane; and somatodendritic compartment. Expressed in several structures, including gonad; neurons; pharynx; somatic nervous system; and vulval cell. Used to study MASA syndrome. Human ortholog(s) of this gene implicated in schizophrenia. Is an ortholog of human NFASC (neurofascin) and NRCAM (neuronal cell adhesion molecule).
Cjp-egl-44 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
OVOC8535 [Browse genome (BioProject PRJEB513)] [Search on AGR]
Onchocerca volvulus Is predicted to encode a protein with the following domains: Glutathione S-transferase, N-terminal domain; Glutathione S-transferase, C-terminal domain superfamily; Thioredoxin-like superfamily; and Glutathione S-transferase, N-terminal. Is an ortholog of C. elegans C02D5.4;
gst-44; and
gsto-2. In C. elegans,
gst-44 is involved in response to reactive oxygen species.
Tmem44 [Search on AGR]
Rattus norvegicus Predicted to be located in membrane. Orthologous to human TMEM44 (transmembrane protein 44); INTERACTS WITH 4,4'-sulfonyldiphenol; 6-propyl-2-thiouracil; bisphenol A.
Cre-lin-44 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Predicted to enable signaling receptor binding activity. Predicted to be involved in Wnt signaling pathway. Predicted to be located in extracellular region. Is an ortholog of C. elegans
lin-44. In C. elegans,
lin-44 is involved in several processes, including nematode male tail tip morphogenesis; neuron migration; and positive regulation of cell projection organization.
Cbr-egl-44 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
SRAE_X000027500 [Browse genome (BioProject PRJEB125)] [Search on AGR]
Strongyloides ratti Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
Cbn-egl-44 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
OVOC10918 [Browse genome (BioProject PRJEB513)] [Search on AGR]
Onchocerca volvulus Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
Ppa-egl-44 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
Bma-egl-44 [Browse genome (BioProject PRJNA10729)] [Search on AGR]
Brugia malayi Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
CBN16859 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in hippo signaling and regulation of DNA-templated transcription. Is an ortholog of C. elegans
egl-44. In C. elegans,
egl-44 is involved in several processes, including generation of neurons; positive regulation of exit from mitosis; and regulation of transcription by RNA polymerase II.
Cbn-spe-44 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
spe-44. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
Cbr-spe-44 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
spe-44. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
CJA13158 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
gmeb-3 and
spe-44. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
CRE15150 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Is predicted to encode a protein with the following domains: Domain of unknown function DUF3447; Ankyrin repeats (3 copies); Ankyrin repeat; Ankyrin repeats (many copies); and Ankyrin repeat-containing domain superfamily. Is an ortholog of C. elegans
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
TMUE_3000011987 [Browse genome (BioProject PRJEB126)] [Search on AGR]
Trichuris muris Is predicted to encode a protein with the following domains: ZU5 domain; Domain of unknown function DUF3447; Ankyrin repeats (3 copies); Ankyrin repeat; Ankyrin repeats (many copies); and Ankyrin repeat-containing domain superfamily. Is an ortholog of C. elegans
unc-44. In C. elegans,
unc-44 is involved in several processes, including axon guidance; establishment or maintenance of cytoskeleton polarity; and regulation of cellular component organization.
Ifi44 [Search on AGR]
Rattus norvegicus Predicted to act upstream of or within response to bacterium. Orthologous to human IFI44 (interferon induced protein 44); INTERACTS WITH 17beta-estradiol; 17beta-estradiol 3-benzoate; 2,3,7,8-tetrachlorodibenzodioxine.
Cre-spe-44 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Expressed in germ line and in male. Is an ortholog of C. elegans
spe-44. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
ceh-44 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Expressed in head muscle; neurons; and somatic nervous system. Human ortholog(s) of this gene implicated in several diseases, including developmental and epileptic encephalopathy 67; gastrointestinal system cancer (multiple); and insulinoma. Is an ortholog of human CUX2 (cut like homeobox 2).
Bm1869 [Browse genome (BioProject PRJNA10729)] [Search on AGR]
Brugia malayi Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
spe-44 and members of the C. elegans gmeb gene class including
gmeb-1. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
OVOC3576 [Browse genome (BioProject PRJEB513)] [Search on AGR]
Onchocerca volvulus Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
spe-44 and members of the C. elegans gmeb gene class including
gmeb-1. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
SRAE_2000353100 [Browse genome (BioProject PRJEB125)] [Search on AGR]
Strongyloides ratti Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
spe-44 and members of the C. elegans gmeb gene class including
gmeb-1. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
twk-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane. Expressed in neurons.
acy-4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable adenylate cyclase activity. Involved in oocyte growth. Acts upstream of or within with a positive effect on oocyte maturation. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 44 and lethal congenital contracture syndrome. Is an ortholog of human ADCY6 (adenylate cyclase 6).
trp-4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable calcium channel activity. Predicted to be involved in sensory perception of mechanical stimulus. Predicted to be located in membrane. Expressed in dopaminergic neurons; dorsal-rectal ganglion neurons; head mesodermal cell; mechanosensory neurons; and rectum. Is an ortholog of human ANKRD28 (ankyrin repeat domain 28) and ANKRD44 (ankyrin repeat domain 44).
PPA35070 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Is an ortholog of C. elegans
spe-44 and members of the C. elegans gmeb gene class including
gmeb-1. In C. elegans,
spe-44 is involved in positive regulation of transcription by RNA polymerase II and spermatogenesis.
gsto-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable glutathione dehydrogenase (ascorbate) activity and glutathione transferase activity. Predicted to be involved in glutathione metabolic process. Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; and asthma. Is an ortholog of human GSTO1 (glutathione S-transferase omega 1) and GSTO2 (glutathione S-transferase omega 2).
Dh44-R2 [Search on AGR]
Drosophila melanogaster Diuretic hormone 44 receptor 2 (Dh44-R2) encodes a protein that exhibits diuretic hormone receptor activity. It is involved in G protein-coupled receptor signaling pathways, hormone-mediated signaling pathways, and response to salt stress.
Rbm44 [Search on AGR]
Rattus norvegicus Predicted to enable protein homodimerization activity. Predicted to be located in cytoplasm and intercellular bridge. Orthologous to human RBM44 (RNA binding motif protein 44); INTERACTS WITH bisphenol A; 1,2-dichloroethane (ortholog); 4,4'-sulfonyldiphenol (ortholog).
Cbr-nhr-44 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Predicted to enable DNA-binding transcription factor activity; sequence-specific DNA binding activity; and zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Is an ortholog of C. elegans
nhr-44.
Wdr44 [Search on AGR]
Rattus norvegicus Enables small GTPase binding activity. Involved in regulation of cell migration. Located in microtubule and perinuclear region of cytoplasm. Orthologous to human WDR44 (WD repeat domain 44); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 2,6-dinitrotoluene.
Zbtb44 [Search on AGR]
Rattus norvegicus Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be located in nucleus. Orthologous to human ZBTB44 (zinc finger and BTB domain containing 44); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.
Fbxo44 [Search on AGR]
Rattus norvegicus Predicted to act upstream of or within proteasomal protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. Orthologous to human FBXO44 (F-box protein 44); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-Tetrachlorodibenzofuran; acetamide.
Cjp-nhr-44 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Predicted to enable DNA-binding transcription factor activity; sequence-specific DNA binding activity; and zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Is an ortholog of C. elegans
nhr-44.
Trmt44 [Search on AGR]
Rattus norvegicus Predicted to enable S-adenosylmethionine-dependent methyltransferase activity and metal ion binding activity. Predicted to be located in cytoplasm. Orthologous to human TRMT44 (tRNA methyltransferase 44 homolog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amitrole.
Cbn-lgc-44 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
Cbr-lgc-44 [Browse genome (BioProject PRJNA10731)] [Search on AGR]
Caenorhabditis briggsae Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
Cre-lgc-44 [Browse genome (BioProject PRJNA577507)] [Search on AGR]
Caenorhabditis remanei Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
twk-12 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane.
Bma-lgc-44 [Browse genome (BioProject PRJNA10729)] [Search on AGR]
Brugia malayi Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
PPA42074 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
Ovo-lgc-44 [Browse genome (BioProject PRJEB513)] [Search on AGR]
Onchocerca volvulus Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
SRAE_2000394700 [Browse genome (BioProject PRJEB125)] [Search on AGR]
Strongyloides ratti Predicted to enable extracellular ligand-gated monoatomic ion channel activity and transmembrane signaling receptor activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
twk-5 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane.
Slc44a5 [Search on AGR]
Rattus norvegicus Predicted to enable choline transmembrane transporter activity. Predicted to be involved in choline transport. Predicted to be located in plasma membrane. Orthologous to human SLC44A5 (solute carrier family 44 member 5); INTERACTS WITH 1-naphthyl isothiocyanate; 4,4'-diaminodiphenylmethane; atrazine.
Arhgap44 [Search on AGR]
Rattus norvegicus Enables GTPase activator activity. Involved in negative regulation of filopodium assembly. Located in dendrite. Is active in glutamatergic synapse; postsynaptic density; and presynaptic active zone. Orthologous to human ARHGAP44 (Rho GTPase activating protein 44); INTERACTS WITH 1,3-dinitrobenzene; atrazine; bisphenol A.
gsto-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable glutathione dehydrogenase (ascorbate) activity and glutathione transferase activity. Predicted to be involved in glutathione metabolic process. Predicted to be located in cytoplasm. Expressed in head; intestine; and tail. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; and asthma. Is an ortholog of human GSTO1 (glutathione S-transferase omega 1) and GSTO2 (glutathione S-transferase omega 2).
Ifi44l [Search on AGR]
Rattus norvegicus Predicted to enable GTP binding activity. Predicted to be involved in defense response to virus. Predicted to act upstream of or within immune response. Orthologous to human IFI44L (interferon induced protein 44 like); INTERACTS WITH (+)-schisandrin B; 1,3-dinitrobenzene; 17beta-estradiol.
Dh44-R1 [Search on AGR]
Drosophila melanogaster Diuretic hormone 44 receptor 1 (Dh44-R1) encodes a G-Protein Coupled Receptor of the Family B class of GPCRs (Secretin Receptor-like). It is involved in regulation of diuresis, sperm storage in females and circadian control of locomotion.
Trim44 [Search on AGR]
Rattus norvegicus Predicted to enable zinc ion binding activity. Involved in response to angiotensin. Located in cytoplasm. Human ortholog(s) of this gene implicated in aniridia. Orthologous to human TRIM44 (tripartite motif containing 44); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; acetamide.
Cep112 [Search on AGR]
Rattus norvegicus Acts upstream of or within receptor localization to synapse. Located in inhibitory synapse and plasma membrane. Human ortholog(s) of this gene implicated in spermatogenic failure 44. Orthologous to human CEP112 (centrosomal protein 112); INTERACTS WITH 2,5-hexanedione; acetamide; bisphenol A.
Nek10 [Search on AGR]
Homo sapiens Enables protein kinase activity. Involved in several processes, including mucociliary clearance; positive regulation of protein phosphorylation; and regulation of ERK1 and ERK2 cascade. Part of protein kinase complex. Implicated in primary ciliary dyskinesia 44. [provided by Alliance of Genome Resources, Apr 2022]
Cfap44 [Search on AGR]
Rattus norvegicus Predicted to enable peptidase activity. Predicted to act upstream of or within sperm axoneme assembly. Human ortholog(s) of this gene implicated in spermatogenic failure 20. Orthologous to human CFAP44 (cilia and flagella associated protein 44); INTERACTS WITH acrylamide; amphetamine; bisphenol A.
twk-13 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane. Expressed in cholinergic neurons and ventral cord neurons.
Cep44 [Search on AGR]
Rattus norvegicus Predicted to enable microtubule binding activity. Predicted to be involved in centriole replication and centriole-centriole cohesion. Predicted to be located in centriole; centrosome; and spindle pole. Orthologous to human CEP44 (centrosomal protein 44); INTERACTS WITH 2,3,7,8-Tetrachlorodibenzofuran; bisphenol A; dibutyl phthalate.
TRM44 [Search on AGR]
Saccharomyces cerevisiae tRNA(Ser) Um(44) 2'-O-methyltransferase; involved in maintaining levels of the tRNA-Ser species tS(CGA) and tS(UGA); conserved among metazoans and fungi but there does not appear to be a homolog in plants; TRM44 is a non-essential gene
CBN31423 [Browse genome (BioProject PRJNA20035)] [Search on AGR]
Caenorhabditis brenneri Is predicted to encode a protein with the following domains: 7TM GPCR, serpentine receptor class z (Srz); Serpentine type 7TM GPCR chemoreceptor Str; Serpentine type 7TM GPCR chemoreceptor Srz; and 7TM GPCR, serpentine receptor class r (Str). Is an ortholog of C. elegans
str-44.
twk-23 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane. Expressed in intestine; muscle cell; and neurons. Is an ortholog of human KCNK2 (potassium two pore domain channel subfamily K member 2).
Cjp-lgc-44 [Browse genome (BioProject PRJNA12591)] [Search on AGR]
Caenorhabditis japonica Predicted to enable DNA binding activity; extracellular ligand-gated monoatomic ion channel activity; and transmembrane signaling receptor activity. Predicted to be involved in DNA integration; DNA transposition; and monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans
lgc-44.
rgr [Search on AGR]
Rattus norvegicus Predicted to be involved in detection of visible light and visual perception. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 44. Orthologous to human RGR (retinal G protein coupled receptor); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; cadmium dichloride.
egl-23 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane.
PPA16258 [Browse genome (BioProject PRJNA12644)] [Search on AGR]
Pristionchus pacificus Predicted to enable several functions, including acetylcholine receptor binding activity; extracellular ligand-gated monoatomic ion channel activity; and protein-membrane adaptor activity. Predicted to be involved in chemical synaptic transmission and monoatomic ion transmembrane transport. Predicted to be located in membrane. Is an ortholog of C. elegans R06F6.8;
lgc-44; and
rpy-1.
Slc25a44 [Search on AGR]
Rattus norvegicus Predicted to enable branched-chain amino acid transmembrane transporter activity. Predicted to be involved in branched-chain amino acid catabolic process; branched-chain amino acid transport; and regulation of cold-induced thermogenesis. Predicted to be located in mitochondrion. Orthologous to human SLC25A44 (solute carrier family 25 member 44); INTERACTS WITH bisphenol A; gentamycin; paracetamol.
Slc44a3 [Search on AGR]
Rattus norvegicus Predicted to enable quaternary ammonium group transmembrane transporter activity and salt transmembrane transporter activity. Predicted to be involved in quaternary ammonium group transport and transmembrane transport. Predicted to be located in plasma membrane. Orthologous to human SLC44A3 (solute carrier family 44 member 3); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil.
Mical [Search on AGR]
Drosophila melanogaster Molecule interacting with CasL (Mical) encodes a multi-domain flavoprotein monooxygenase (Redox) enzyme. It is activated by actin filaments, and then oxidizes actin on methionines 44 and 47, disassembling the actin filaments and inhibiting actin polymerization. This regulates cell morphology in the nervous system and muscle, working with the the receptor encoded by PlexA and cofilin, encoded by tsr.
twk-18 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables outward rectifier potassium channel activity. Involved in locomotion; muscle contraction; and potassium ion transport. Predicted to be located in membrane. Expressed in body wall musculature.
let-19 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of mediator complex. Expressed in several structures, including TL.a; TL.p; TR.a; TR.p; and seam cell. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder and dextro-looped transposition of the great arteries. Is an ortholog of human MED13 (mediator complex subunit 13) and MED13L (mediator complex subunit 13L).
ERp44 [Search on AGR]
Rattus norvegicus Predicted to enable protein disulfide isomerase activity. Predicted to be involved in several processes, including protein folding; response to endoplasmic reticulum stress; and response to unfolded protein. Predicted to be located in cell surface; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. Orthologous to human ERP44 (endoplasmic reticulum protein 44); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amitrole.
Slc44a1 [Search on AGR]
Rattus norvegicus Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Predicted to be located in several cellular components, including cytosol; mitochondrial outer membrane; and nucleoplasm. Human ortholog(s) of this gene implicated in high grade glioma. Orthologous to human SLC44A1 (solute carrier family 44 member 1); INTERACTS WITH 1,3-dinitrobenzene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Slc44a2 [Search on AGR]
Rattus norvegicus Predicted to enable choline transmembrane transporter activity and ethanolamine transmembrane transporter activity. Predicted to be involved in organic cation transport; positive regulation of canonical NF-kappaB signal transduction; and transmembrane transport. Predicted to be located in mitochondrial outer membrane and plasma membrane. Orthologous to human SLC44A2 (solute carrier family 44 member 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; 6-propyl-2-thiouracil.
trio [Search on AGR]
Rattus norvegicus Enables enzyme binding activity. Involved in modulation of chemical synaptic transmission. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynapse. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder and autosomal dominant intellectual developmental disorder 44. Orthologous to human TRIO (trio Rho guanine nucleotide exchange factor); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Ccdc50 [Search on AGR]
Rattus norvegicus Predicted to enable ubiquitin protein ligase binding activity. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol and microtubule cytoskeleton. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 44 and mantle cell lymphoma. Orthologous to human CCDC50 (coiled-coil domain containing 50); INTERACTS WITH 1,2-dimethylhydrazine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Klhl20 [Search on AGR]
Homo sapiens The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
twk-6 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Predicted to be involved in potassium ion transmembrane transport and stabilization of membrane potential. Predicted to be located in membrane. Expressed in hypodermis and tail. Is an ortholog of several human genes including KCNK2 (potassium two pore domain channel subfamily K member 2); KCNK4 (potassium two pore domain channel subfamily K member 4); and KCNK5 (potassium two pore domain channel subfamily K member 5).
lov-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables protein domain specific binding activity. Involved in response to hermaphrodite contact and vulval location. Located in neuronal cell body and non-motile cilium. Expressed in CEM and in male. Used to study autosomal dominant polycystic kidney disease.
pkd-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables calcium channel activity. Involved in calcium ion transport; response to hermaphrodite contact; and vulval location. Located in several cellular components, including neuronal cell body; perinuclear region of cytoplasm; and plasma membrane bounded cell projection. Expressed in CEM; nerve ring; neurons; and ray. Used to study autosomal dominant polycystic kidney disease. Human ortholog(s) of this gene implicated in intracranial aneurysm; polycystic kidney disease 2; and retinal degeneration. Is an ortholog of human PKD2 (polycystin 2, transient receptor potential cation channel) and PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel).
Usp44 [Search on AGR]
Rattus norvegicus Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in several processes, including antiviral innate immune response; regulation of mitotic metaphase/anaphase transition; and regulatory T cell differentiation. Predicted to be active in nucleus. Orthologous to human USP44 (ubiquitin specific peptidase 44); PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; histone modification pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amphetamine; bisphenol A.
Timm44 [Search on AGR]
Rattus norvegicus Enables enzyme binding activity and protein-folding chaperone binding activity. Involved in cardiac muscle cell differentiation; intracellular protein transport; and response to 3,3',5-triiodo-L-thyronine. Located in mitochondrial inner membrane. Biomarker of diabetic retinopathy. Orthologous to human TIMM44 (translocase of inner mitochondrial membrane 44); PARTICIPATES IN presequence pathway of mitochondrial protein import; INTERACTS WITH (+)-schisandrin B; 1,2-dimethylhydrazine; 17alpha-ethynylestradiol.
Lss [Search on AGR]
Rattus norvegicus Enables lanosterol synthase activity. Involved in cholesterol biosynthetic process. Predicted to be located in endoplasmic reticulum membrane and lipid droplet. Human ortholog(s) of this gene implicated in alopecia-mental retardation syndrome 4; cataract; cataract 44; and hypotrichosis 14. Orthologous to human LSS (lanosterol synthase); PARTICIPATES IN cholesterol biosynthetic pathway; alendronate pharmacodynamics pathway; cholesterol ester storage disease pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 17beta-estradiol.
Nek10 [Search on AGR]
Rattus norvegicus Predicted to enable protein kinase activity. Predicted to be involved in several processes, including mucociliary clearance; positive regulation of protein autophosphorylation; and regulation of ERK1 and ERK2 cascade. Predicted to be located in extracellular region. Predicted to be part of protein kinase complex. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 44. Orthologous to human NEK10 (NIMA related kinase 10); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; amphetamine.
Slc44a4 [Search on AGR]
Rattus norvegicus Predicted to enable choline transmembrane transporter activity and thiamine pyrophosphate transmembrane transporter activity. Predicted to be involved in several processes, including acetylcholine biosynthetic process; otolith formation; and quaternary ammonium group transport. Predicted to be located in apical plasma membrane. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 72. Orthologous to human SLC44A4 (solute carrier family 44 member 4); INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine.
egl-15 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables protein kinase activity. Involved in several processes, including egg-laying behavior; muscle cell cellular homeostasis; and nematode larval development. Predicted to be located in membrane. Predicted to be part of receptor complex. Expressed in head neurons; hypodermis; intestine; male sex myoblast; and vulval muscle. Used to study bone disease. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; bone disease (multiple); carcinoma (multiple); and hematologic cancer (multiple). Is an ortholog of human FGFR2 (fibroblast growth factor receptor 2).
unc-58 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables outward rectifier potassium channel activity. Involved in several processes, including muscle contraction; parturition; and regulation of muscle contraction. Predicted to be located in membrane. Expressed in interneuron and motor neurons. Is an ortholog of human KCNK17 (potassium two pore domain channel subfamily K member 17) and KCNK5 (potassium two pore domain channel subfamily K member 5).
Fastkd2 [Search on AGR]
Rattus norvegicus Predicted to enable rRNA binding activity. Predicted to be involved in several processes, including gene expression; mitochondrial large ribosomal subunit assembly; and positive regulation of mitochondrial translation. Predicted to be located in mitochondrial nucleoid and ribonucleoprotein granule. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 44. Orthologous to human FASTKD2 (FAST kinase domains 2); INTERACTS WITH 3-chloropropane-1,2-diol; 6-propyl-2-thiouracil; bisphenol A.
sup-9 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable outward rectifier potassium channel activity and potassium ion leak channel activity. Involved in regulation of muscle contraction. Located in muscle cell projection membrane and striated muscle dense body. Expressed in body wall musculature; muscle cell; and neurons. Human ortholog(s) of this gene implicated in Birk-Barel syndrome and primary pulmonary hypertension. Is an ortholog of human KCNK3 (potassium two pore domain channel subfamily K member 3) and KCNK9 (potassium two pore domain channel subfamily K member 9).
Uba5 [Search on AGR]
Rattus norvegicus Predicted to enable UFM1 activating enzyme activity; protein homodimerization activity; and zinc ion binding activity. Predicted to be involved in several processes, including myeloid cell differentiation; protein ufmylation; and reticulophagy. Predicted to be located in cytosol and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 24 and developmental and epileptic encephalopathy 44. Orthologous to human UBA5 (ubiquitin like modifier activating enzyme 5); INTERACTS WITH (+)-schisandrin B; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane; 17beta-estradiol.
Atxn3 [Search on AGR]
Homo sapiens Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
unc-73 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including cellular component organization; modulation of chemical synaptic transmission; and positive regulation of protein localization to synapse. Located in axon; cytoplasm; and muscle cell projection. Expressed in several structures, including egg-laying apparatus; hermaphrodite gonad; lumbar ganglion; neurons; and tail hypodermis. Used to study epilepsy. Human ortholog(s) of this gene implicated in artery disease (multiple); autosomal dominant intellectual developmental disorder 44; and cerebral infarction. Is an ortholog of human KALRN (kalirin RhoGEF kinase) and TRIO (trio Rho guanine nucleotide exchange factor).
pros-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in glial cell development. Located in nucleus. Expressed in several structures, including labial sensillum and neuronal sheath cell. Is an ortholog of human PROX1 (prospero homeobox 1).
mgl-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential; adenylate cyclase inhibiting G protein-coupled glutamate receptor activity; and neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration. Predicted to be involved in G protein-coupled glutamate receptor signaling pathway and regulation of glutamatergic synaptic transmission. Predicted to be located in postsynaptic density membrane. Expressed in several structures, including glutamatergic neurons; head neurons; pharyngeal nervous system; somatic nervous system; and tail neurons. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 13 and spinocerebellar ataxia 44. Is an ortholog of human GRM1 (glutamate metabotropic receptor 1).
Adcy1 [Search on AGR]
Rattus norvegicus Enables calcium- and calmodulin-responsive adenylate cyclase activity. Involved in cAMP biosynthetic process; circadian rhythm; and response to xenobiotic stimulus. Predicted to be located in cytoplasm; plasma membrane; and postsynaptic density. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 44. Orthologous to human ADCY1 (adenylate cyclase 1); PARTICIPATES IN endothelin signaling pathway; G protein mediated signaling pathway via Galphas family; protein kinase A (PKA) signaling pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 6-propyl-2-thiouracil.
Gjc2 [Search on AGR]
Rattus norvegicus Predicted to enable gap junction channel activity involved in cell communication by electrical coupling. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; positive regulation of calcium ion transmembrane transport; and positive regulation of oligodendrocyte progenitor proliferation. Located in several cellular components, including paranode region of axon; perikaryon; and proximal neuron projection. Biomarker of Parkinson's disease. Human ortholog(s) of this gene implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to human GJC2 (gap junction protein gamma 2); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; 6-propyl-2-thiouracil; amitrole.
Grm1 [Search on AGR]
Rattus norvegicus Enables G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential and nuclear estrogen receptor binding activity. Involved in several processes, including G protein-coupled glutamate receptor signaling pathway; calcium-mediated signaling; and regulation of glutamatergic synaptic transmission. Located in axon; dendritic spine; and presynaptic membrane. Is active in glutamatergic synapse and postsynaptic density membrane. Biomarker of temporal lobe epilepsy. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 13 and spinocerebellar ataxia 44. Orthologous to human GRM1 (glutamate metabotropic receptor 1); PARTICIPATES IN calcium/calcium-mediated signaling pathway; glutamate signaling pathway; Huntington's disease pathway; INTERACTS WITH (+)-pilocarpine; (S)-3,5-dihydroxyphenylglycine; (S)-nicotine.
Stat2 [Search on AGR]
Homo sapiens The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein
p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
Mettl23 [Search on AGR]
Rattus norvegicus Predicted to enable DNA-binding transcription factor binding activity; heat shock protein binding activity; and histone H3R17 methyltransferase activity. Predicted to be involved in cognition; epigenetic programming in the zygotic pronuclei; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of with a positive effect on epigenetic programing of male pronucleus. Predicted to be located in cytoplasm and female pronucleus. Predicted to be part of protein-containing complex. Predicted to be active in male pronucleus. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 44. Orthologous to human METTL23 (methyltransferase 23, arginine); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol.
dmd-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including nematode male tail tip morphogenesis; neuron differentiation; and regulation of reproductive process. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in neuronal cell body. Expressed in several structures, including PHC; epithelial cell; gonad; ray neuron type A; and tail hypodermis. Is an ortholog of human DMRTB1 (DMRT like family B with proline rich C-terminal 1).
yap-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and protein kinase binding activity. Involved in establishment of cell polarity and positive regulation of transcription by RNA polymerase II. Located in axoneme; ciliary base; and nucleus. Part of RNA polymerase II transcription regulator complex. Expressed in several structures, including excretory system; hermaphrodite gonad; pharyngeal muscle cell; tail hypodermis; and vulva. Human ortholog(s) of this gene implicated in colorectal cancer and uveal coloboma-cleft lip and palate-intellectual disability. Is an ortholog of human WWTR1 (WW domain containing transcription regulator 1) and YAP1 (Yes1 associated transcriptional regulator).
sym-4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enriched in several structures, including ABalapapap; ABalapppap; excretory cell; head mesodermal cell; and neurons based on microarray; tiling array; RNA-seq; and single-cell RNA-seq studies. Is affected by several genes including
daf-12;
hsf-1; and
sir-2.1 based on microarray; tiling array; and RNA-seq studies. Is affected by four chemicals including rotenone; stavudine; and fluvastatin based on RNA-seq and microarray studies. Human WDR44 enables molecular sequestering activity and small GTPase binding activity. Is predicted to encode a protein with the following domains: WD repeat-containing protein WDR44/Dgr2; WD domain, G-beta repeat; WD40-repeat-containing domain superfamily; WD40/YVTN repeat-like-containing domain superfamily; WD40 repeat; and Phosphorylation site. Is an ortholog of human WDR44 (WD repeat domain 44).
Stat2 [Search on AGR]
Rattus norvegicus Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; identical protein binding activity; and ubiquitin-like protein ligase binding activity. Predicted to be involved in several processes, including defense response to other organism; negative regulation of type I interferon-mediated signaling pathway; and receptor signaling pathway via JAK-STAT. Predicted to be located in cytosol and plasma membrane. Predicted to be part of ISGF3 complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Zika fever; immunodeficiency 44; and neutropenia. Orthologous to human STAT2 (signal transducer and activator of transcription 2); PARTICIPATES IN interleukin-27 signaling pathway; Jak-Stat signaling pathway; chemokine mediated signaling pathway; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5,5'-tetrabromobisphenol A.
Cav1 [Search on AGR]
Homo sapiens The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-
p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
lin-17 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables receptor tyrosine kinase binding activity. Involved in several processes, including axis specification; cell differentiation; and sex differentiation. Located in neuron projection membrane. Expressed in several structures, including P3.p male; P4.p male; PQR; epithelial cell; and male-specific anatomical entity.
Gtf2h2 [Search on AGR]
Homo sapiens This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]
FRAXA [Search on AGR]
Homo sapiens This biological region is found near the 5' regulatory region of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene on the q arm of chromosome X, and contains a CGG trinucleotide repeat with AGG repeat interruptions. This region is highly polymorphic, and alleles with varying numbers of repeats have been observed. Alleles with repeat sizes of 5-44 tend to show mitotic and meiotic stability, while those with about 45-54 repeats are at a higher risk for instability, but show no phenotype. Individuals with alleles that are expanded to 55-200 repeats are at risk for a number of disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated premature ovarian insufficiency (FXPOI), and adult-onset neurodegenerative disorder. These alleles tend to be unstable upon transmission, with a bias for expansion during maternal transmission. Alleles containing more than 200 CGG repeats are considered full mutation alleles, and are associated with fragile X syndrome. These alleles display hypermethylation of the FMR1 promoter region. It has been shown that the presence of AGG interruptions reduce the risk of repeat instability. [provided by RefSeq, Apr 2022]