WormBase Tree Display for Gene: WBGene00003171
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WBGene00003171 | SMap | S_parent | Sequence | ZK154 | |||||
---|---|---|---|---|---|---|---|---|---|
Identity | Version | 1 | |||||||
Name | CGC_name | mec-7 | Person_evidence | WBPerson95 | |||||
Sequence_name | ZK154.3 | ||||||||
Molecular_name | ZK154.3 | ||||||||
ZK154.3.1 | |||||||||
CE15257 | |||||||||
Other_name | CELE_ZK154.3 | Accession_evidence | NDB | BX284606 | |||||
Public_name | mec-7 | ||||||||
DB_info | Database | AceView | gene | XI394 | |||||
WormQTL | gene | WBGene00003171 | |||||||
WormFlux | gene | WBGene00003171 | |||||||
NDB | locus_tag | CELE_ZK154.3 | |||||||
Panther | gene | CAEEL|WormBase=WBGene00003171|UniProtKB=P12456 | |||||||
family | PTHR11588 | ||||||||
NCBI | gene | 181036 | |||||||
RefSeq | protein | NM_076912.5 | |||||||
SwissProt | UniProtAcc | P12456 | |||||||
UniProt_GCRP | UniProtAcc | P12456 | |||||||
OMIM | gene | 191130 | |||||||
602660 | |||||||||
602662 | |||||||||
Species | Caenorhabditis elegans | ||||||||
History | Version_change | 1 | 07 Apr 2004 11:29:31 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
Status | Live | ||||||||
Gene_info (11) | |||||||||
Disease_info | Experimental_model | DOID:14452 | Homo sapiens | Paper_evidence | WBPaper00002711 | ||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 24 Aug 2018 00:00:00 | ||||||||
Potential_model | DOID:0112242 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20778) | |||||
DOID:0090136 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20778) | ||||||
DOID:0112240 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20771) | ||||||
DOID:0060798 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20774) | ||||||
DOID:0090041 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20774) | ||||||
Disease_relevance | C. elegans mec-4 and deg-1 genes encode proteins, called degenerins, that are similar to the subunits of the human amiloride-sensitive epithelial sodium-channels; death-inducing substitutions in the gain-of-function mutant deg-1, e1611 and u231, may hyperactivate the channels, resulting in increased or altered ion flow and/osmotic imbalance and consequent neuron death; similarities between the degenerin-induced deaths and the early pathology of of neurons in human dominant myotonias, excitotoxicity, and epilepsy suggest similar mechanisms; studies with the elegans mutations show that the abnormalities infolding of the plasma membrane whorls, cytoplasmic vacuoles, cell swelling, chromatin aggregates and nuclear invaginations; mitochondria and golgi are not dramatically affected until the final stages of cell death when organelles, and sometimes the cells lyse; pathology of degeneration is dependent on abnormal degenerin gene dosage. | Homo sapiens | Paper_evidence | WBPaper00002711 | |||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 13 Nov 2014 00:00:00 | ||||||||
Models_disease_asserted | WBDOannot00000609 | ||||||||
Molecular_info | Corresponding_CDS | ZK154.3 | |||||||
Corresponding_transcript | ZK154.3.1 | ||||||||
Other_sequence (45) | |||||||||
Associated_feature | WBsf654161 | ||||||||
WBsf654162 | |||||||||
WBsf977521 | |||||||||
WBsf977522 | |||||||||
WBsf977523 | |||||||||
WBsf977524 | |||||||||
WBsf1005948 | |||||||||
WBsf1023307 | |||||||||
WBsf237608 | |||||||||
Experimental_info | RNAi_result | WBRNAi00075173 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00087075 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075175 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075170 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00072805 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00087077 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00059247 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00087076 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075168 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00087079 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00087078 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00030230 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075172 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00072804 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00072806 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075169 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075174 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00075171 | Inferred_automatically | RNAi_primary | |||||||
Expr_pattern | Expr266 | ||||||||
Expr1504 | |||||||||
Expr1524 | |||||||||
Expr1577 | |||||||||
Expr11808 | |||||||||
Expr1015364 | |||||||||
Expr1031504 | |||||||||
Expr1162675 | |||||||||
Expr2013501 | |||||||||
Expr2031735 | |||||||||
Drives_construct (154) | |||||||||
Construct_product | WBCnstr00000678 | ||||||||
WBCnstr00001034 | |||||||||
WBCnstr00015918 | |||||||||
WBCnstr00036199 | |||||||||
Antibody | WBAntibody00000087 | ||||||||
WBAntibody00001541 | |||||||||
WBAntibody00001774 | |||||||||
WBAntibody00001775 | |||||||||
Microarray_results (18) | |||||||||
Expression_cluster (243) | |||||||||
Interaction (229) | |||||||||
WBProcess | WBbiopr:00000002 | ||||||||
Map_info | Map | X | Position | -1.27615 | Error | 0.00769 | |||
Well_ordered | |||||||||
Positive | Inside_rearr | raDf7 | |||||||
Positive_clone | NW#B4 | ||||||||
ZK154 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
Mapping_data | 2_point | 167 | |||||||
672 | |||||||||
1828 | |||||||||
Multi_point (15) | |||||||||
Pos_neg_data | 7293 | ||||||||
7294 | |||||||||
7295 | |||||||||
529 | |||||||||
3176 | |||||||||
9433 | |||||||||
Reference (243) | |||||||||
Method | Gene |