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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

HCOP human homology predictions: BBS2
Protein SuperFamily: Bardet-Biedl syndrome 2 protein
Gene Tree: Bbs2

Human
homologs
BBS2, Bardet-Biedl syndrome 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 583
neXtProt AC: NX_Q9BXC9

Human Synonyms: BBS

Human Chr (Location): 16q21; chr16:56470389-56520096 (-)  GRCh38.p2

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 in Mice Using Bbs2 (1)    Mutations 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: (44 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bbs2 ; ZFIN bbs2    NEW 
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 Phenotyping Consortium Status Bbs2
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 IPR029333 Ciliary BBSome complex subunit 2, C-terminal domain
InterPro IPR029429 Ciliary BBSome complex subunit 2, middle region
InterPro IPR029430 Ciliary BBSome complex subunit 2, N-terminal
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(53)
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
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory