WormBase Tree Display for Gene: WBGene00006748
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| WBGene00006748 | SMap | S_parent | Sequence | R13A1 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | unc-8 | Person_evidence | WBPerson261 | |||||
| Sequence_name | R13A1.4 | ||||||||
| Molecular_name (12) | |||||||||
| Other_name | unc-28 | ||||||||
| CELE_R13A1.4 | Accession_evidence | NDB | BX284604 | ||||||
| Public_name | unc-8 | ||||||||
| DB_info | Database (10) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:41 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | unc | ||||||||
| Reference_allele | WBVar00142933 | ||||||||
| Allele (117) | |||||||||
| Legacy_information | e49 : moves well but slowly and irregularly often kinking both forward and backward; e49/+ very slightly uncoordinated. ES2 ME1. NA (recessive) 1. Also dominant coiler alleles e15sd (pka unc-28) : ES3 ME0; n491sd (homozygotes strong coilers n491/+ coiler slightly weaker phenotype). Intragenic revertants of n491 (e.g. n491n1192) are wildtype thus unc-8 null phenotype may be wildtype. NA (dominant) 4. | ||||||||
| See unc-8. | |||||||||
| See also e2056, n491, n492, n773, n778, n1142, n1143, n1144, n1145, n1146, n1147, n1148, n1149, n1150, n1192, n1193, n1194, n1195, n1196, n1197, n1198, n1199 | |||||||||
| [Tavernarakis N] unc-8 is predicted gene R13A1.4, encoding degenerin, 59% similar to MEC-4. e15 is missense change G387E. | |||||||||
| [C.elegansII] e49 : moves well but slowly and irregularly, often kinking both forward and backward; swollen ventral cord motor neurons;e49/+ very slightly uncoordinated. ES2 ME1. NA1 (recessive). Also dominant coiler alleles: e15sd (pka unc-28, ES3 ME0), n491sd (homozygotes strong coilers, n491/+ coiler, slightly weaker phenotype). Intragenic revertants of n491 (e.g. n491n1192) are wildtype thus unc-8 null phenotype may be wildtype. OA3 (dominant):n492, n773. See also extragenic suppressors sup-40, 41, 42. [Park and Horvitz 1986a; Shreffler et al. 1995; MP] | |||||||||
| Strain (36) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (19) | |||||||||
| Ortholog (42) | |||||||||
| Paralog (30) | |||||||||
| Structured_description | Concise_description | unc-8 encodes an amiloride-sensitive DEG/ENaC cation-selective channel subunit orthologous to human ENaCB (OMIM:600760, associated with Liddle syndrome, an autosomal dominant form of hypertension); UNC-8 is predicted to function as part of a mechanically gated channel that responds to stretch, and is required for modulating the sinusoidal body wave that is characteristic of C. elegans locomotion; unc-8 interacts genetically with unc-1 and unc-24, which encode stomatin-like proteins, and with mec-6, which encodes a paraoxonase; UNC-8 is expressed in motor neurons, sensory neurons, and interneurons in the nerve ring; UNC-8 may form a channel with the degenerin DEL-1, with which it is coexpressed in ventral cord motor neurons. | Paper_evidence | WBPaper00002646 | |||||
| WBPaper00005849 | |||||||||
| WBPaper00019222 | |||||||||
| WBPaper00019325 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable ligand-gated sodium channel activity. Involved in locomotion. Located in neuronal cell body. Expressed in neurons. 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 | 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) | ||||||
| Molecular_info | Corresponding_CDS | R13A1.4a | |||||||
| R13A1.4b | |||||||||
| R13A1.4c | |||||||||
| R13A1.4d | |||||||||
| Corresponding_transcript | R13A1.4a.1 | ||||||||
| R13A1.4b.1 | |||||||||
| R13A1.4c.1 | |||||||||
| R13A1.4d.1 | |||||||||
| Other_sequence | ACC13027_1 | ||||||||
| JI214273.1 | |||||||||
| Acan_isotig11116 | |||||||||
| Oden_isotig23782 | |||||||||
| Dviv_isotig26506 | |||||||||
| JI178650.1 | |||||||||
| FC549331.1 | |||||||||
| BM01270 | |||||||||
| FC548463.1 | |||||||||
| BMC13578_1 | |||||||||
| Associated_feature | WBsf646071 | ||||||||
| WBsf996907 | |||||||||
| WBsf228514 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00017811 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00090015 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00090174 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00090333 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00091324 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00089753 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00051879 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00103488 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern (12) | |||||||||
| Drives_construct | WBCnstr00000187 | ||||||||
| WBCnstr00000188 | |||||||||
| WBCnstr00009868 | |||||||||
| WBCnstr00013003 | |||||||||
| WBCnstr00020598 | |||||||||
| WBCnstr00034175 | |||||||||
| WBCnstr00043041 | |||||||||
| Construct_product | WBCnstr00008369 | ||||||||
| WBCnstr00017716 | |||||||||
| WBCnstr00020599 | |||||||||
| WBCnstr00034175 | |||||||||
| WBCnstr00041577 | |||||||||
| Antibody | WBAntibody00000751 | ||||||||
| Microarray_results (23) | |||||||||
| Expression_cluster (124) | |||||||||
| Interaction (125) | |||||||||
| WBProcess | WBbiopr:00000002 | ||||||||
| Map_info | Map | IV | Position | 3.29315 | Error | 0.001092 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | R13A1 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | 2_point (11) | ||||||||
| Multi_point (40) | |||||||||
| Pos_neg_data | 2737 | ||||||||
| 3701 | |||||||||
| 2736 | |||||||||
| Reference (116) | |||||||||
| Remark | Data extracted from Tavernarakis et al. (1997) | ||||||||
| Method | Gene |
