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WormBase Tree Display for Gene: WBGene00000244

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Name Class

WBGene00000244EvidencePaper_evidenceWBPaper00024175
SMapS_parentSequenceT25F10
IdentityVersion2
NameCGC_namebbs-8Person_evidenceWBPerson2136
Sequence_nameT25F10.5
Molecular_nameT25F10.5
T25F10.5.1
CE31071
Other_nameolrn-2Paper_evidenceWBPaper00029060
Person_evidenceWBPerson309
CELE_T25F10.5Accession_evidenceNDBBX284605
Public_namebbs-8
DB_infoDatabase (11)
SpeciesCaenorhabditis elegans
HistoryVersion_change107 Apr 2004 11:29:20WBPerson1971EventImportedInitial conversion from geneace
225 Jul 2007 10:03:22WBPerson2970Name_changeOther_nameolrn-2
StatusLive
Gene_infoBiotypeSO:0001217
Gene_classbbs
Allele (51)
StrainWBStrain00001435
WBStrain00001436
WBStrain00022194
WBStrain00027641
WBStrain00049022
RNASeq_FPKM (74)
GO_annotation (28)
Ortholog (39)
ParalogWBGene00003858Caenorhabditis elegansFrom_analysisWormBase-Compara
WBGene00003885Caenorhabditis elegansFrom_analysisWormBase-Compara
WBGene00017983Caenorhabditis elegansFrom_analysisWormBase-Compara
WBGene00018175Caenorhabditis elegansFrom_analysisWormBase-Compara
WBGene00021444Caenorhabditis elegansFrom_analysisWormBase-Compara
WBGene00021613Caenorhabditis elegansFrom_analysisWormBase-Compara
WBGene00043992Caenorhabditis elegansFrom_analysisWormBase-Compara
Structured_descriptionConcise_descriptionbbs-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_evidenceWBPaper00024175
WBPaper00024240
WBPaper00040543
Curator_confirmedWBPerson1843
WBPerson324
Date_last_updated27 May 2005 00:00:00
Automated_descriptionInvolved 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_evidenceWBPaper00065943
Curator_confirmedWBPerson324
WBPerson37462
Inferred_automaticallyThis description was generated automatically by a script based on data from the WS291 version of WormBase
Date_last_updated29 Nov 2023 00:00:00
Disease_infoExperimental_modelDOID:1935Homo sapiensPaper_evidenceWBPaper00040341
WBPaper00024240
Accession_evidenceOMIM209900
Curator_confirmedWBPerson324
Date_last_updated03 May 2017 00:00:00
DOID:0060340Homo sapiensPaper_evidenceWBPaper00059362
Curator_confirmedWBPerson324
Date_last_updated04 Jun 2021 00:00:00
Potential_modelDOID:0110398Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:20087)
DOID:0110130Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:20087)
DOID:1935Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:20087)
Disease_relevanceThe 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 sapiensPaper_evidenceWBPaper00040341
Accession_evidenceOMIM209900
608132
Curator_confirmedWBPerson324
Date_last_updated08 May 2017 00:00:00
Models_disease_assertedWBDOannot00000041
WBDOannot00000414
WBDOannot00000926
Molecular_infoCorresponding_CDST25F10.5
Corresponding_transcriptT25F10.5.1
Other_sequenceACC10039_1
EY460653.1
Acan_isotig14435
JI177768.1
EY466674.1
EX827603.1
Oden_isotig28352
Associated_featureWBsf047491
WBsf652733
WBsf669071
WBsf233860
Experimental_infoRNAi_resultWBRNAi00035968Inferred_automaticallyRNAi_primary
WBRNAi00054147Inferred_automaticallyRNAi_primary
WBRNAi00019226Inferred_automaticallyRNAi_primary
WBRNAi00103543Inferred_automaticallyRNAi_primary
Expr_patternExpr3406
Expr3699
Expr3723
Expr6765
Expr6766
Expr10111
Expr1016191
Expr1157694
Expr2009574
Expr2027811
Drives_constructWBCnstr00002317
WBCnstr00002318
WBCnstr00011384
WBCnstr00011610
WBCnstr00011628
WBCnstr00022310
WBCnstr00037634
WBCnstr00042014
WBCnstr00042015
Construct_productWBCnstr00008465
WBCnstr00011384
WBCnstr00011610
WBCnstr00015638
WBCnstr00015649
WBCnstr00037634
Microarray_results (18)
Expression_cluster (148)
Interaction (28)
Map_infoMapVPosition0.146771Error0.002265
PositivePositive_cloneT25F10Inferred_automaticallyFrom sequence, transcript, pseudogene data
Mapping_dataMulti_point4923
Pseudo_map_position
Reference (47)
RemarkMap 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
MethodGene