WormBase Tree Display for Gene: WBGene00000244
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WBGene00000244 | Evidence | Paper_evidence | WBPaper00024175 | ||||||
---|---|---|---|---|---|---|---|---|---|
SMap | S_parent | Sequence | T25F10 | ||||||
Identity | Version | 2 | |||||||
Name | CGC_name | bbs-8 | Person_evidence | WBPerson2136 | |||||
Sequence_name | T25F10.5 | ||||||||
Molecular_name | T25F10.5 | ||||||||
T25F10.5.1 | |||||||||
CE31071 | |||||||||
Other_name | olrn-2 | Paper_evidence | WBPaper00029060 | ||||||
Person_evidence | WBPerson309 | ||||||||
CELE_T25F10.5 | Accession_evidence | NDB | BX284605 | ||||||
Public_name | bbs-8 | ||||||||
DB_info | Database (11) | ||||||||
Species | Caenorhabditis elegans | ||||||||
History | Version_change | 1 | 07 Apr 2004 11:29:20 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
2 | 25 Jul 2007 10:03:22 | WBPerson2970 | Name_change | Other_name | olrn-2 | ||||
Status | Live | ||||||||
Gene_info | Biotype | SO:0001217 | |||||||
Gene_class | bbs | ||||||||
Allele (51) | |||||||||
Strain | WBStrain00001435 | ||||||||
WBStrain00001436 | |||||||||
WBStrain00022194 | |||||||||
WBStrain00027641 | |||||||||
WBStrain00049022 | |||||||||
RNASeq_FPKM (74) | |||||||||
GO_annotation (28) | |||||||||
Ortholog (39) | |||||||||
Paralog | WBGene00003858 | Caenorhabditis elegans | From_analysis | WormBase-Compara | |||||
WBGene00003885 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
WBGene00017983 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
WBGene00018175 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
WBGene00021444 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
WBGene00021613 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
WBGene00043992 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
Structured_description | Concise_description | bbs-8 encodes a tetratricopeptide repeat (TPR)-containing protein that is orthologous to the human Bardet-Biedl syndrome protein, BBS8; in C. elegans, bbs-8 activity is required for cilia biogenesis and function; accordingly, bbs-8 mutant animals display odorant chemotaxis defects and exhibit both aberrant motility and abnormal localization of at least two intraflagellar transport (IFT) protein markers; bbs-8 is also required for the proper regulation of insulin secretion; bbs-8, bbs-5, bbs-1, and bbs-9 mutants along with ciliary phenotypes show an increased secretion of insulin, biogenic amines and neuropeptides, which requires the Rab27/AEX-6 dense-core vesicle exocytosis machinery; a BBS-8::GFP translational fusion is expressed exclusively in ciliated head and tail neurons, where it localizes predominantly to the base of cilia, known as the ciliary transition zone; bbs gene expression is regulated by the DAF-19 RFX-type transcription factor. | Paper_evidence | WBPaper00024175 | |||||
WBPaper00024240 | |||||||||
WBPaper00040543 | |||||||||
Curator_confirmed | WBPerson1843 | ||||||||
WBPerson324 | |||||||||
Date_last_updated | 27 May 2005 00:00:00 | ||||||||
Automated_description | Involved in several processes, including cilium organization; olfactory learning; and regulation of cellular localization. Located in cilium and dendrite terminus. Expressed in ciliated neurons; head; and sensory neurons. Used to study Bardet-Biedl syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 8 and retinitis pigmentosa 51. Is an ortholog of human TTC8 (tetratricopeptide repeat domain 8). | 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 | |||||||||
Accession_evidence | OMIM | 209900 | |||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 03 May 2017 00:00:00 | ||||||||
DOID:0060340 | Homo sapiens | Paper_evidence | WBPaper00059362 | ||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 04 Jun 2021 00:00:00 | ||||||||
Potential_model | DOID:0110398 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20087) | |||||
DOID:0110130 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20087) | ||||||
DOID:1935 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20087) | ||||||
Disease_relevance | The human ortholog TTC8 (Tetratricopepetide Repeat Domain 8; also known as BBS8) is mutated in Bardet-Biedl syndrome 8; 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:BBS proteins may regulate GCY-35/GCY-36 cGMP signaling which can affect BBS mutant gene phenotypes; bbs proteins also regulate secretion of insulin, biogenic amines and neuropeptides, suggesting that some of the clinical manifestations of human BBS may result from excessive endocrine activity; transcription of BBS proteins is regulated by a RFX-transcription factor. | Homo sapiens | Paper_evidence | WBPaper00040341 | |||||
Accession_evidence | OMIM | 209900 | |||||||
608132 | |||||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 08 May 2017 00:00:00 | ||||||||
Models_disease_asserted | WBDOannot00000041 | ||||||||
WBDOannot00000414 | |||||||||
WBDOannot00000926 | |||||||||
Molecular_info | Corresponding_CDS | T25F10.5 | |||||||
Corresponding_transcript | T25F10.5.1 | ||||||||
Other_sequence | ACC10039_1 | ||||||||
EY460653.1 | |||||||||
Acan_isotig14435 | |||||||||
JI177768.1 | |||||||||
EY466674.1 | |||||||||
EX827603.1 | |||||||||
Oden_isotig28352 | |||||||||
Associated_feature | WBsf047491 | ||||||||
WBsf652733 | |||||||||
WBsf669071 | |||||||||
WBsf233860 | |||||||||
Experimental_info | RNAi_result | WBRNAi00035968 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00054147 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00019226 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00103543 | Inferred_automatically | RNAi_primary | |||||||
Expr_pattern | Expr3406 | ||||||||
Expr3699 | |||||||||
Expr3723 | |||||||||
Expr6765 | |||||||||
Expr6766 | |||||||||
Expr10111 | |||||||||
Expr1016191 | |||||||||
Expr1157694 | |||||||||
Expr2009574 | |||||||||
Expr2027811 | |||||||||
Drives_construct | WBCnstr00002317 | ||||||||
WBCnstr00002318 | |||||||||
WBCnstr00011384 | |||||||||
WBCnstr00011610 | |||||||||
WBCnstr00011628 | |||||||||
WBCnstr00022310 | |||||||||
WBCnstr00037634 | |||||||||
WBCnstr00042014 | |||||||||
WBCnstr00042015 | |||||||||
Construct_product | WBCnstr00008465 | ||||||||
WBCnstr00011384 | |||||||||
WBCnstr00011610 | |||||||||
WBCnstr00015638 | |||||||||
WBCnstr00015649 | |||||||||
WBCnstr00037634 | |||||||||
Microarray_results (18) | |||||||||
Expression_cluster (148) | |||||||||
Interaction (28) | |||||||||
Map_info | Map | V | Position | 0.146771 | Error | 0.002265 | |||
Positive | Positive_clone | T25F10 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
Mapping_data | Multi_point | 4923 | |||||||
Pseudo_map_position | |||||||||
Reference (47) | |||||||||
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 |