WormBase Tree Display for Gene: WBGene00000950
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| WBGene00000950 | SMap | S_parent | Sequence | CHROMOSOME_X | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | deg-1 | Person_evidence | WBPerson95 | |||||
| Sequence_name | C47C12.6 | ||||||||
| Molecular_name (22) | |||||||||
| Other_name | CELE_C47C12.6 | Accession_evidence | NDB | BX284606 | |||||
| Public_name | deg-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:22 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 20 May 2019 15:21:47 | WBPerson4025 | Event | Acquires_merge | WBGene00016736 | ||||
| Acquires_merge | WBGene00016736 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | deg | ||||||||
| Reference_allele | WBVar00266506 | ||||||||
| Allele (447) | |||||||||
| Possibly_affected_by | WBVar02153054 | ||||||||
| Legacy_information | u38ts dm : touch-insensitive prod-insensitive only in tail. PVC interneurons degenerate at L1/L2 certain other neurons die at hatching (some IL1 also probably AVG) or L4 moult (probably AVD). ES2. NA1. Intragenic revertants (e.g. u38u175) are wildtype (probable null phenotype). | ||||||||
| [C.elegansII] u38ts,dm : touch-insensitive and prod-insensitive only in tail. PVC interneurons degenerate at L1/L2, certain other neurons die at hatching (some IL1, also probably AVG) or L4 moult (probably AVD). ES2. OA1 (dominant):u529 (identical). Intragenic revertants (e.g. u38u175) are wildtype (probable null phenotype). Also recessive gf allele: u506 (cs embryonic lethal, arrest at 2-fold with cell degenerations at 15C; see also des-1, des-4) Cloned: encodes predicted membrane protein, two TM domains surrounding Cys-rich domain. Deg alleles are A707V (u38, 2nd TM domain) andA393T (u506, predicted extracellular). [Chalfie and Wolinsky 1990; Hong and Driscoll 1994; Garcia-Anoveros et al. 1995; MP; TU] | |||||||||
| Strain | WBStrain00026624 | ||||||||
| WBStrain00035030 | |||||||||
| WBStrain00035044 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (17) | |||||||||
| Ortholog (47) | |||||||||
| Paralog (30) | |||||||||
| Structured_description | Concise_description | deg-1 encodes a putative ion channel for which altered function induces necrotic cell death of neurons required for mechanosensory behavior; expressed in the ASH, IL1, AVD, AVG, and PVC neurons in addition to some muscle cells. | Paper_evidence | WBPaper00001299 | |||||
| WBPaper00002128 | |||||||||
| WBPaper00002163 | |||||||||
| WBPaper00002711 | |||||||||
| WBPaper00003408 | |||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable ligand-gated sodium channel activity. Involved in response to acidic pH and response to amino acid. Predicted to be located in membrane. Expressed in AVG; IL1 neuron; anal depressor muscle; body wall musculature; and command interneuron. Used to study hypokalemic periodic paralysis and neurodegenerative disease. Human ortholog(s) of this gene implicated in bronchiectasis (multiple) 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:1289 | Homo sapiens | Paper_evidence | WBPaper00001299 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2018 00:00:00 | ||||||||
| DOID:14452 | Homo sapiens | Paper_evidence | WBPaper00002711 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2018 00:00:00 | ||||||||
| Potential_model | DOID:0080526 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600) | |||||
| DOID:0050477 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600,HGNC:10602) | ||||||
| DOID:4479 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600,HGNC:10602) | ||||||
| DOID:0080528 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10602) | ||||||
| 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 | WBDOannot00000326 | ||||||||
| WBDOannot00000327 | |||||||||
| WBDOannot00000606 | |||||||||
| WBDOannot00000607 | |||||||||
| WBDOannot00000608 | |||||||||
| Molecular_info | Corresponding_CDS | C47C12.6a | |||||||
| C47C12.6b | |||||||||
| C47C12.6c | |||||||||
| C47C12.6d | |||||||||
| C47C12.6e | |||||||||
| C47C12.6f | |||||||||
| C47C12.6g | |||||||||
| Corresponding_transcript | C47C12.6a.1 | ||||||||
| C47C12.6a.2 | |||||||||
| C47C12.6b.1 | |||||||||
| C47C12.6c.1 | |||||||||
| C47C12.6d.1 | |||||||||
| C47C12.6e.1 | |||||||||
| C47C12.6f.1 | |||||||||
| C47C12.6g.1 | |||||||||
| Other_sequence (23) | |||||||||
| Associated_feature (5) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00012066 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00042661 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00042658 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00012062 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00012061 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr223 | ||||||||
| Expr1018755 | |||||||||
| Expr1024786 | |||||||||
| Expr1030590 | |||||||||
| Expr1146645 | |||||||||
| Expr1146648 | |||||||||
| Expr2001706 | |||||||||
| Expr2010843 | |||||||||
| Expr2019933 | |||||||||
| Expr2029081 | |||||||||
| Drives_construct | WBCnstr00004791 | ||||||||
| WBCnstr00027842 | |||||||||
| WBCnstr00037184 | |||||||||
| Construct_product | WBCnstr00027842 | ||||||||
| WBCnstr00037184 | |||||||||
| Microarray_results (30) | |||||||||
| Expression_cluster (127) | |||||||||
| Interaction (43) | |||||||||
| Map_info | Map | X | Position | -1.27954 | Error | 0.007914 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | C47C12 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Negative | Outside_rearr (4) | ||||||||
| Mapping_data | 2_point | 1828 | |||||||
| Multi_point | 789 | ||||||||
| 1202 | |||||||||
| 1203 | |||||||||
| 1337 | |||||||||
| 4631 | |||||||||
| Pos_neg_data | 9429 | ||||||||
| 9431 | |||||||||
| 9434 | |||||||||
| 9436 | |||||||||
| Reference (130) | |||||||||
| Remark | C47C12.1 was merged into .6. [sdm 11/2000] | ||||||||
| Method | Gene |
