WormBase Tree Display for Gene: WBGene00000242
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| WBGene00000242 | Evidence | Paper_evidence | WBPaper00024175 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | F20D12 | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | bbs-2 | Person_evidence | WBPerson2136 | |||||
| Sequence_name | F20D12.3 | ||||||||
| Molecular_name | F20D12.3 | ||||||||
| F20D12.3.1 | |||||||||
| CE49510 | |||||||||
| Other_name | CELE_F20D12.3 | Accession_evidence | NDB | BX284604 | |||||
| Public_name | bbs-2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:20 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | bbs | ||||||||
| Allele (42) | |||||||||
| Strain | WBStrain00001433 | ||||||||
| WBStrain00032923 | |||||||||
| WBStrain00036384 | |||||||||
| WBStrain00036700 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (18) | |||||||||
| Ortholog (37) | |||||||||
| Structured_description | Concise_description | bbs-2 encodes a ciliary protein that is orthologous to human BBS2; bbs-2 is expressed exclusively in ciliated sensory neurons at the transition zone and along the axoneme; BBS proteins are required for ciliary structure and function; BBS-2 along with other BBS proteins undergoes intraflagellar transport (IFT); loss of function mutations in the guanylate cyclase complex GCY-35/GCY-36 results in a full or partial suppression of the non-ciliary phenotypes of BBS mutants like body size, developmental delay, and roaming defects suggesting a non-cell autonomous role for sensory cilia and BBS proteins in regulating cGMP signaling. | Paper_evidence | WBPaper00012869 | |||||
| WBPaper00013100 | |||||||||
| WBPaper00013219 | |||||||||
| WBPaper00024240 | |||||||||
| WBPaper00040341 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 30 Jan 2012 00:00:00 | ||||||||
| Automated_description | Involved in non-motile cilium assembly. Located in ciliary basal body and neuron projection. Expressed in ciliated neurons and sensory neurons. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Is an ortholog of human BBS2 (Bardet-Biedl syndrome 2). | 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 | ||||
| Accession_evidence | OMIM | 209900 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 04 May 2017 00:00:00 | ||||||||
| Potential_model | DOID:0110401 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:967) | |||||
| DOID:0110124 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:967) | ||||||
| DOID:9970 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:967) | ||||||
| DOID:1935 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:967) | ||||||
| Disease_relevance | Mutations in the human BBS2 gene are implicated in Bardet-Biedl syndrome 2; 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 elegans indicate that transcription of BBS proteins is regulated by a RFX-transcription factor and that BBS proteins may also regulate GCY-35/GCY-36 cGMP signaling which can affect BBS mutant gene phenotypes. | Homo sapiens | Paper_evidence | WBPaper00040314 | |||||
| Accession_evidence | OMIM | 606151 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 04 May 2017 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000036 | ||||||||
| Molecular_info | Corresponding_CDS | F20D12.3 | |||||||
| Corresponding_CDS_history | F20D12.3:wp241 | ||||||||
| Corresponding_transcript | F20D12.3.1 | ||||||||
| Other_sequence | Acan_isotig09195 | ||||||||
| Associated_feature | WBsf042311 | ||||||||
| WBsf646130 | |||||||||
| WBsf228599 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00031172 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00045103 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00013619 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00095206 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00103296 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Chronogram1576 | ||||||||
| Expr3404 | |||||||||
| Expr3723 | |||||||||
| Expr5806 | |||||||||
| Expr10115 | |||||||||
| Expr1017579 | |||||||||
| Expr1030155 | |||||||||
| Expr1149053 | |||||||||
| Expr2009571 | |||||||||
| Expr2027808 | |||||||||
| Drives_construct | WBCnstr00002315 | ||||||||
| WBCnstr00011382 | |||||||||
| WBCnstr00037635 | |||||||||
| Construct_product | WBCnstr00011382 | ||||||||
| WBCnstr00015641 | |||||||||
| WBCnstr00015645 | |||||||||
| WBCnstr00015648 | |||||||||
| WBCnstr00037635 | |||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (158) | |||||||||
| Interaction | WBInteraction000272760 | ||||||||
| WBInteraction000348830 | |||||||||
| WBInteraction000387768 | |||||||||
| Map_info | Map | IV | Position | 3.50153 | Error | 0.000571 | |||
| Positive | Positive_clone | F20D12 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference (13) | |||||||||
| Remark | Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | |||||||
| Method | Gene |
