WormBase Tree Display for Gene: WBGene00003892
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| WBGene00003892 | Evidence | Paper_evidence | WBPaper00019165 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | Y75B8A | ||||||
| Identity | Version | 2 | |||||||
| Name | CGC_name | osm-12 | Person_evidence | WBPerson242 | |||||
| Sequence_name | Y75B8A.12 | ||||||||
| Molecular_name | Y75B8A.12 | ||||||||
| Y75B8A.12.1 | |||||||||
| CE23024 | |||||||||
| Other_name | bbs-7 | Paper_evidence | WBPaper00024240 | ||||||
| CGC_data_submission | |||||||||
| CELE_Y75B8A.12 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | osm-12 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:33 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 14 May 2004 16:21:16 | WBPerson1845 | Event | Acquires_merge | WBGene00000243 | ||||
| Acquires_merge | WBGene00000243 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | osm | ||||||||
| Cloned_by | Person_evidence | WBPerson2136 | |||||||
| Allele (288) | |||||||||
| Legacy_information | [C.elegansII] n1606 : defective osmotic avoidance. NA1. [MT; JT] | ||||||||
| Strain | WBStrain00001434 | ||||||||
| WBStrain00027084 | |||||||||
| WBStrain00031968 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (26) | |||||||||
| Ortholog (41) | |||||||||
| Structured_description | Concise_description | osm-12 encodes a protein that is an ortholog to human BBS7; osm-12 along with bbs-8 is required for cilia biogenesis and function, accordingly, osm-12 mutant animals display odorant chemotaxis defects; oms-12 and bbs-8 are required for intraflagellar transport (IFT) and the motility and function of IFT proteins like OSM-5, CHE-11 and CHE-2; in addition to the sensory defects exhibited by bbs mutants, osm-12 and bbs-8 mutants also show reduced body size, developmental delay, and altered roaming, which are rescued by mutations in the guanylate complex GCY-35/GCY-36, suggesting that BBS proteins may regulate cGMP signaling; OSM-12 is expressed exclusively in ciliated sensory neurons, where it localizes predominantly to the base of cilia, known as the ciliary transition zone; DNA sequences upstream of osm-12 contain X box DNA binding sites, suggesting that osm-12 expression may be regulated by the DAF-19 RFX-type transcription factor. | Paper_evidence | WBPaper00024240 | |||||
| WBPaper00040341 | |||||||||
| WBPaper00028530 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 01 Feb 2012 00:00:00 | ||||||||
| Automated_description | Involved in chemotaxis; cilium organization; and protein localization to microvillus membrane. Located in ciliary basal body; neuron projection; and non-motile cilium. Expressed in ciliated neurons and sensory neurons. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 7. Is an ortholog of human BBS7 (Bardet-Biedl syndrome 7). | 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:1935 | Homo sapiens | Paper_evidence | WBPaper00040341 | ||||
| WBPaper00024240 | |||||||||
| WBPaper00046099 | |||||||||
| Accession_evidence | OMIM | 209900 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 08 May 2017 00:00:00 | ||||||||
| Potential_model | DOID:0110129 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:18758) | |||||
| DOID:1935 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:18758) | ||||||
| Disease_relevance | The human ortholog BBS7 is mutated in Bardet-Biedl syndrome 7; Bardet-Biedl syndrome phenotypes include retinal degeneration, obesity, renal malformations, polydactyly and learning disabilities; studies in the worm have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; most of the known BBS proteins in human and elegans encode basal body or cilia proteins involved in ciliary structure and function including intraflagellar transport (IFT); studies in C. elegans indicate that transcription of BBS proteins is regulated by a RFX-transcription factor and that some BBS proteins may also regulate GCY-35/GCY-36 cGMP signaling which can affect BBS mutant gene phenotypes. | Homo sapiens | Paper_evidence | WBPaper00040341 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 08 May 2017 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000040 | ||||||||
| WBDOannot00000413 | |||||||||
| WBDOannot00000415 | |||||||||
| WBDOannot00000416 | |||||||||
| Molecular_info | Corresponding_CDS | Y75B8A.12 | |||||||
| Corresponding_transcript | Y75B8A.12.1 | ||||||||
| Other_sequence | Tcir_isotig07366 | ||||||||
| FC544675.1 | |||||||||
| Oden_isotig22323 | |||||||||
| ACC12170_1 | |||||||||
| Acan_isotig10177 | |||||||||
| Associated_feature | WBsf047490 | ||||||||
| WBsf651528 | |||||||||
| WBsf667505 | |||||||||
| WBsf667506 | |||||||||
| WBsf994597 | |||||||||
| WBsf994598 | |||||||||
| WBsf1016160 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00058439 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00037840 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00095207 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00006795 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr3405 | ||||||||
| Expr3698 | |||||||||
| Expr3723 | |||||||||
| Expr7125 | |||||||||
| Expr10119 | |||||||||
| Expr1029180 | |||||||||
| Expr1031835 | |||||||||
| Expr1161858 | |||||||||
| Expr2014641 | |||||||||
| Expr2032874 | |||||||||
| Drives_construct (13) | |||||||||
| Construct_product | WBCnstr00008464 | ||||||||
| WBCnstr00011383 | |||||||||
| WBCnstr00011609 | |||||||||
| WBCnstr00015627 | |||||||||
| WBCnstr00015644 | |||||||||
| WBCnstr00015645 | |||||||||
| WBCnstr00015653 | |||||||||
| WBCnstr00035808 | |||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (150) | |||||||||
| Interaction (28) | |||||||||
| Anatomy_function | WBbtf0480 | ||||||||
| Map_info | Map | III | Position | 16.0844 | Error | 0.181973 | |||
| Positive | Positive_clone | Y75B8A | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | 2_point | 3725 | |||||||
| Multi_point | 1364 | ||||||||
| 5667 | |||||||||
| Reference (42) | |||||||||
| Method | Gene |
