WormBase Tree Display for Gene: WBGene00003168
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| WBGene00003168 | SMap | S_parent | Sequence | T01C8 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | mec-4 | Person_evidence | WBPerson95 | |||||
| Sequence_name | T01C8.7 | ||||||||
| Molecular_name | T01C8.7 | ||||||||
| T01C8.7.1 | |||||||||
| CE39109 | |||||||||
| Other_name | mec-13 | ||||||||
| CELE_T01C8.7 | Accession_evidence | NDB | BX284606 | ||||||
| Public_name | mec-4 | ||||||||
| DB_info | Database | AceView | gene | XR418 | |||||
| WormQTL | gene | WBGene00003168 | |||||||
| WormFlux | gene | WBGene00003168 | |||||||
| NDB | locus_tag | CELE_T01C8.7 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00003168|UniProtKB=P24612 | |||||||
| family | PTHR11690 | ||||||||
| NCBI | gene | 181728 | |||||||
| RefSeq | protein | NM_078311.8 | |||||||
| SwissProt | UniProtAcc | P24612 | |||||||
| UniProt_GCRP | UniProtAcc | P24612 | |||||||
| OMIM | gene | 600228 | |||||||
| 600760 | |||||||||
| 600761 | |||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:31 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mec | ||||||||
| Allele (162) | |||||||||
| Legacy_information | u52amber : touch insensitive lethargic. ES2 ME2. NA > 50 (e1339 (weak allele sometimes touch sensitive in tail); e1497 u45ts etc.). Class 3 alleles e1611dm (pka mec-13 : touch insensitive microtubule cells become vacuolated and die in e1611 and e1611/+; probably neomorphic). ES2 ME3. NA (dominant) 3. Intragenic revertants (e.g. e1611e1879) resemble u52. | ||||||||
| See mec-4. | |||||||||
| See also e1339, e1879 | |||||||||
| [C.elegansII] u52amb : touch insensitive, lethargic. ES2 ME2. OA>50: e1339 (weak allele, sometimes touch sensitive in tail), e1497, u45ts etc. Also dominant Deg alleles: e1611dm (pka mec-13, touch insensitive, microtubule cells become vacuolated and die in e1611 and e1611/+; neomorphic. ES2 ME3. Intragenic revertants (e.g. e1611e1879) resemble u52. OA2 (dominant). Cloned: encodes protein related to mammalian ENaC sodium channel subunit. Deg alleles are bulky missense changes at A442. See also deg-1,mec-10. [Driscoll and Chalfie 1991; Hong and Driscoll 1994; TU; ZB] | |||||||||
| Strain (17) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (50) | |||||||||
| Ortholog (51) | |||||||||
| Paralog (30) | |||||||||
| Structured_description (2) | |||||||||
| Disease_info | Experimental_model | DOID:326 | Homo sapiens | Paper_evidence | WBPaper00024867 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 21 Sep 2019 00:00:00 | ||||||||
| DOID:1289 | Homo sapiens | Paper_evidence | WBPaper00001872 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 21 Sep 2018 00:00:00 | ||||||||
| Potential_model | DOID:0080526 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600) | |||||
| DOID:0080527 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10599) | ||||||
| DOID:0050477 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10599,HGNC:10600,HGNC:10602) | ||||||
| DOID:4479 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10599,HGNC:10600,HGNC:10602) | ||||||
| DOID:0080528 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10602) | ||||||
| DOID:769 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10599) | ||||||
| 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; ion channel hyperactivation can result in neuronal loss in injury, ischemia/stroke and neurodegenerative disease; a dominant mutation in the mec-4 mechanosensory channel, induces neuronal necrosis through an increase in intracellular calcium and calpain activation; MEC-4(d) itself conducts calcium both when heterologously expressed in Xenopus oocytes and invivo in C . elegans touch neurons; this supports a molecular model of necrosis where calcium influx through the MEC-4 (d) channel activates calcium-induced calcium release from the ER to promote neuronal death, a mechanism that may apply to neurotoxicity associated with activation of the ASIC1a channel in mammalian ischemia. | Homo sapiens | Paper_evidence | WBPaper00032072 | |||||
| WBPaper00001872 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Nov 2014 00:00:00 | ||||||||
| Models_disease_in_annotation (2) | |||||||||
| Molecular_info | Corresponding_CDS | T01C8.7 | |||||||
| Corresponding_CDS_history | T01C8.7:wp148 | ||||||||
| Corresponding_transcript | T01C8.7.1 | ||||||||
| Other_sequence | PPC12150_1 | ||||||||
| JI211692.1 | |||||||||
| Oden_isotig08538 | |||||||||
| Oden_isotig22436 | |||||||||
| Dviv_isotig28064 | |||||||||
| FK801600.1 | |||||||||
| Tcol_isotig24133 | |||||||||
| JI233135.1 | |||||||||
| Acan_isotig14824 | |||||||||
| Associated_feature | WBsf671485 | ||||||||
| WBsf977525 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00052113 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00017962 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00089577 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern (15) | |||||||||
| Drives_construct (159) | |||||||||
| Construct_product (15) | |||||||||
| Antibody | WBAntibody00000110 | ||||||||
| WBAntibody00001355 | |||||||||
| WBAntibody00001578 | |||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (110) | |||||||||
| Interaction (193) | |||||||||
| WBProcess | WBbiopr:00000002 | ||||||||
| WBbiopr:00000013 | |||||||||
| Map_info (4) | |||||||||
| Reference (377) | |||||||||
| Method | Gene |
