Bbs5
Gene Detail

Symbol Name ID

Bbs5 Bardet-Biedl syndrome 5 (human) MGI:1919819

Synonyms

1700049I01Rik, 2700023J09Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 2

40.91 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr2:69647171-69667571 bp, + strand From VEGA annotation of GRCm38   20401 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:12471  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3
Gene Tree: Bbs5

Human homologs

Human Homolog		BBS5, Bardet-Biedl syndrome 5
NCBI Gene ID		129880
neXtProt AC		NX_Q8N3I7
Human Chr (Location)		2q31.1; chr2:170336006-170363165 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BBS5

Alleles and phenotypes

All alleles(5) : Targeted(4) Gene trapped(1)

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	cilium assembly
Component	BBSome, cell projection, ...
Function	phosphatidylinositol-3-phosphate binding

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(17) cDNA(17)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000012987 (Evidence)
Ensembl Gene Model	ENSMUSG00000063145 (Evidence)
Entrez Gene	72569 (Evidence)
UniGene	252136
DFCI	TC1581681, TC1700898
DoTS	DT.40159589, DT.94249396
NIA Mouse Gene Index	U001870
Consensus CDS Project	CCDS16094.1
International Mouse Knockout Project Status	Bbs5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012987	VEGA Gene Model | MGI Sequence Detail	20401	C57BL/6J
transcript	OTTMUST00000031285	VEGA | MGI Sequence Detail	1468	Not Applicable
polypeptide	OTTMUSP00000013998	VEGA | MGI Sequence Detail	341	Not Applicable

All sequences(43) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(127 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006606	Bardet-Biedl syndrome 5 protein
Protein Ontology	PR:000004668	bardet-Biedl syndrome 5 protein

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:193003 Zhang Q, et al., Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem. 2012 Jun 8;287(24):20625-35
All references(35)

Other accession IDs

MGI:1920698