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 | Concise_description | mec-4 encodes an amiloride-sensitive Na+ channel protein (degenerin) required to sense gentle mechanical stimuli (e.g. touch) along the body wall; MEC-4 is paralogous to, and coexpressed with, MEC-10, in all six touch cell neurons where they form a heteromeric mechanotransduction channel. | Paper_evidence | WBPaper00005127 | |||||
| WBPaper00005234 | |||||||||
| WBPaper00005591 | |||||||||
| WBPaper00005849 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Enables ligand-gated sodium channel activity. Involved in regulation of multicellular organismal process; response to mechanical stimulus; and sodium ion transmembrane transport. Located in axon and neuron projection membrane. Expressed in touch receptor neurons. Used to study ischemia and neurodegenerative disease. Human ortholog(s) of this gene implicated in bronchiectasis (multiple); neuroblastoma; and renal tubular transport disease (multiple). Is an ortholog of human SCNN1B (sodium channel epithelial 1 subunit beta); SCNN1D (sodium channel epithelial 1 subunit delta); and SCNN1G (sodium channel epithelial 1 subunit gamma). | 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 | 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 | WBDOannot00000332 | ||||||||
| WBDOannot00000333 | |||||||||
| 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 | Map | X | Position | 24.0629 | Error | 0.000371 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | T01C8 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| T20B9 | |||||||||
| Mapping_data | 2_point | 172 | |||||||
| 3645 | |||||||||
| Multi_point | 277 | ||||||||
| 426 | |||||||||
| 1206 | |||||||||
| 1544 | |||||||||
| 1545 | |||||||||
| 5059 | |||||||||
| Pos_neg_data | 534 | ||||||||
| 535 | |||||||||
| 537 | |||||||||
| 538 | |||||||||
| 539 | |||||||||
| 1848 | |||||||||
| 1919 | |||||||||
| 2188 | |||||||||
| 2332 | |||||||||
| 3639 | |||||||||
| Reference (377) | |||||||||
| Method | Gene |
