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 (18) | ||||||||
| 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 |
