WormBase Tree Display for Gene: WBGene00006787
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WBGene00006787 | SMap | S_parent | Sequence | CHROMOSOME_II | |||
---|---|---|---|---|---|---|---|
Identity | Version | 2 | |||||
Name | CGC_name | unc-52 | Person_evidence | WBPerson261 | |||
Sequence_name | ZC101.2 | ||||||
Molecular_name (49) | |||||||
Other_name | CELE_ZC101.2 | Accession_evidence | NDB | BX284602 | |||
Public_name | unc-52 | ||||||
DB_info | Database (13) | ||||||
Species | Caenorhabditis elegans | ||||||
History | Version_change (2) | ||||||
Acquires_merge | WBGene00013851 | ||||||
Status | Live | ||||||
Gene_info | Biotype | SO:0001217 | |||||
Gene_class | unc | ||||||
Reference_allele | WBVar00143214 | ||||||
Allele (702) | |||||||
Possibly_affected_by | WBVar02152950 | ||||||
WBVar02152951 | |||||||
WBVar02152902 | |||||||
WBVar02152903 | |||||||
Legacy_information | e444 : adults limp paralysed except for head region thin Egl; larvae move well; progressive dystrophy posterior muscles fail to accumulate myofilaments. ES3 (adult) ME0. NA > 10 (e669amber (well suppressed) e998 (stronger phenotype) r290 etc.). | ||||||
See also e444, e669, e998, e1012, e1421 | |||||||
[C.elegansII] e444 : adults limp, paralysed except for head region; thin; Egl; larvae move well; progressive dystrophy, body muscles fail to accumulate myofilaments. Class 1 allele. ES3 (adult) ME0. OA>10 (class 1): e669amb (well suppressed), e998 (stronger phenotype), su200, r290 etc. Also class 2 mutations: st549 (lethal, severe Pat, no organized myofilament lattice; probable null), st546, st560 etc. (all similar to st549). Also class 3 mutation: ut111 (lethal, arrest at two-fold; not paralysed; complements class 1 alleles. See also sup-38, smu. Cloned: multiple transcripts (4.0, 6.5, 8.0 kb)g enerated by alternative RNA processing; encode proteins related to perlecan (matrix heparansulfate proteoglycan)[Rogalski et al. 1993, 1995; DM] | |||||||
Strain (294) | |||||||
RNASeq_FPKM (74) | |||||||
GO_annotation (37) | |||||||
Ortholog (39) | |||||||
Paralog | WBGene00001328 | Caenorhabditis elegans | From_analysis | Panther | |||
WormBase-Compara | |||||||
WBGene00002247 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00002248 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00006432 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00006746 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00018304 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00016913 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00020581 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||
Structured_description | Concise_description | The unc-52 gene encodes perlecan, a protein orthologous to human basement membrane-specific heparan sulfate proteoglycan core protein (HSPG2; OMIM:142461, which when mutated leads to Schwartz-Jampel syndrome or dyssegmental dysplasia); UNC-52 plays essential roles in muscle structure development and regulation of growth factor-like signaling pathways; UNC-52 is synthesized by the hypodermis and localizes to the extracellular matrix between hypodermis and muscle. | Paper_evidence | WBPaper00005261 | |||
WBPaper00005568 | |||||||
WBPaper00005809 | |||||||
Curator_confirmed | WBPerson1843 | ||||||
WBPerson1823 | |||||||
WBPerson567 | |||||||
Date_last_updated | 17 Jun 2004 00:00:00 | ||||||
Automated_description | An extracellular matrix structural constituent. Involved in several processes, including hemidesmosome assembly; muscle cell cellular homeostasis; and muscle structure development. Located in basement membrane and striated muscle dense body. Expressed in alimentary muscle; body wall musculature; gonad; and pharyngeal-intestinal valve. Human ortholog(s) of this gene implicated in several diseases, including Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and hyperglycemia. Is an ortholog of human HSPG2 (heparan sulfate proteoglycan 2). | Paper_evidence | WBPaper00065943 | ||||
Curator_confirmed | WBPerson324 | ||||||
WBPerson37462 | |||||||
Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||
Date_last_updated | 29 Nov 2023 00:00:00 | ||||||
Disease_info | Potential_model | DOID:0090032 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||
DOID:0090005 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||
DOID:4195 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||
DOID:3407 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||
DOID:2256 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||
Molecular_info | Corresponding_CDS (16) | ||||||
Corresponding_CDS_history | ZC101.2d:wp274 | ||||||
Corresponding_transcript (17) | |||||||
Other_sequence (130) | |||||||
Associated_feature (48) | |||||||
Experimental_info | RNAi_result (85) | ||||||
Expr_pattern (12) | |||||||
Drives_construct | WBCnstr00002344 | ||||||
WBCnstr00004314 | |||||||
WBCnstr00034151 | |||||||
Construct_product | WBCnstr00000996 | ||||||
WBCnstr00000997 | |||||||
WBCnstr00001000 | |||||||
WBCnstr00001001 | |||||||
WBCnstr00001002 | |||||||
WBCnstr00034151 | |||||||
Antibody | WBAntibody00000069 | ||||||
WBAntibody00000104 | |||||||
WBAntibody00000243 | |||||||
WBAntibody00002529 | |||||||
Microarray_results (76) | |||||||
Expression_cluster (328) | |||||||
Interaction (249) | |||||||
WBProcess | WBbiopr:00000006 | ||||||
Map_info | Map | II | Position | 23.3333 | Error | 0.020195 | |
Well_ordered | |||||||
Positive | Inside_rearr | jDf1 | |||||
mnDp34 | |||||||
mnDp35 | |||||||
mnDp36 | |||||||
mT1 | |||||||
Positive_clone | RW#DM44 | ||||||
YK1120 | |||||||
ZC101 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
Mapping_data | 2_point (19) | ||||||
Multi_point (35) | |||||||
Pos_neg_data | 1539 | ||||||
1548 | |||||||
1551 | |||||||
2132 | |||||||
2147 | |||||||
2156 | |||||||
2168 | |||||||
Landmark_gene | |||||||
Reference (256) | |||||||
Method | Gene |