Bbs2
Gene Detail

Symbol Name ID

Bbs2 Bardet-Biedl syndrome 2 (human) MGI:2135267

Synonyms

2410125H22Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 8

46.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr8:94067954-94098811 bp, - strand From VEGA annotation of GRCm38   30858 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:12122  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 2 protein
Gene Tree: Bbs2

Human homologs

Human Homolog		BBS2, Bardet-Biedl syndrome 2
NCBI Gene ID		583
neXtProt AC		NX_Q9BXC9
Human Synonyms		BBS
Human Chr (Location)		16q21; chr16:56518259-56554008 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BBS2

Alleles and phenotypes

All alleles(15) : Targeted(2) Gene trapped(13)
 

Homozygous null mice display obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction.

 
Human Diseases Modeled Using Mouse Bbs2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (36 annotations)

Process	adult behavior, artery smooth muscle contraction, ...
Component	BBSome, cell projection, ...
Function	molecular_function

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

Expression

Literature Summary: (4 records)
Data Summary: Results (90)    Tissues (34)    Images (17)
Theiler Stages: 2, 3, 19, 23, 28

Assay Type	Results
RNA in situ	54
RT-PCR	36

cDNA source data(22)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000036712 (Evidence)
Ensembl Gene Model	ENSMUSG00000031755 (Evidence)
Entrez Gene	67378 (Evidence)
UniGene	292107
DFCI	TC1582107
DoTS	DT.488162
NIA Mouse Gene Index	U030117
Consensus CDS Project	CCDS40434.1
International Mouse Knockout Project Status	Bbs2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036712	VEGA Gene Model | MGI Sequence Detail	30858	C57BL/6J
transcript	OTTMUST00000094058	VEGA | MGI Sequence Detail	2947	Not Applicable
polypeptide	OTTMUSP00000052250	VEGA | MGI Sequence Detail	721	Not Applicable

All sequences(26) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(171 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016616	Bardet-Biedl syndrome 2 protein
InterPro	IPR013517	FG-GAP repeat
InterPro	IPR017986	WD40-repeat-containing domain
InterPro	IPR015943	WD40/YVTN repeat-like-containing domain
Protein Ontology	PR:000004666	bardet-Biedl syndrome 2 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(50)

Other accession IDs

MGI:1914628, MGI:2142541