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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 western clawed frog; 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; chr16:56470389-56520096 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human BBS2
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Gene trapped(13) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Bbs2 interacts with 65 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process adult behavior, artery smooth muscle contraction, ...
Component BBSome, cell projection, ...
Function RNA polymerase II repressing transcription factor binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (90)    Tissues (35)    Images (17)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 54
RT-PCR 36
cDNA source data(22)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000036712 (Evidence)
Ensembl Gene ModelENSMUSG00000031755 (Evidence)
Entrez Gene67378 (Evidence)
UniGene292107
DFCITC1582107
DoTSDT.488162
NIA Mouse Gene IndexU030117
Consensus CDS ProjectCCDS40434.1
International Mouse Knockout Project StatusBbs2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036712 VEGA Gene Model | MGI Sequence Detail 30858 C57BL/6J ±  kb
transcript OTTMUST00000094058 VEGA | MGI Sequence Detail 2947 Not Applicable 
polypeptide OTTMUSP00000052250 VEGA | MGI Sequence Detail 721 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(6) UniProt(2)
Polymorphisms
SNPs within 2kb(188 from dbSNP Build 137)    SNPs within 2kb including multiple locations(190)
Protein-related
information
ResourceIDDescription
InterPro IPR016616 Bardet-Biedl syndrome 2 protein
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:207969 Chamling X, et al., The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014 Feb;10(2):e1004083
All references(52)
Disease annotation references (1)
Other
accession IDs
MGI:1914628, MGI:2142541

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory