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Bbs7
Gene Detail
Symbol

Name
ID
Bbs7
Bardet-Biedl syndrome 7 (human)
MGI:1918742
Synonyms
8430406N16Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 3
17.72 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:36573142-36613477 bp, - strand
From VEGA annotation of GRCm38

  40336 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12395  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: BBS7
Protein SuperFamily: Bardet-Biedl syndrome 7 protein
Gene Tree: Bbs7

Human
homologs
BBS7, Bardet-Biedl syndrome 7
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 55212
neXtProt AC: NX_Q8IWZ6

Human Synonyms: BBS2L1

Human Chr (Location): 4q27; chr4:121824329-121870497 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BBS7

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(3) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit nromal eye, neurocranial and limb development.
 
Interactions
Bbs7 interacts with 132 markers (Mir7-1, Mir15b, Mir19a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process brain development, cell projection organization, ...
Component axoneme, BBSome, ...
Function RNA polymerase II repressing transcription factor binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (75)    Tissues (51)    Images (27)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 68
RT-PCR 7
cDNA source data(13)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bbs7 ; ZFIN bbs7    NEW 
Molecular
reagents
All nucleic(17) Genomic(1) cDNA(15) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000006487 (Evidence)
Ensembl Gene Model ENSMUSG00000037325 (Evidence)
Entrez Gene 71492 (Evidence)
UniGene 286187
DFCI TC1579121
DoTS DT.94262111, DT.99839595
NIA Mouse Gene Index U023950
Consensus CDS Project CCDS17314.2
International Mouse Phenotyping Consortium Status Bbs7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006487 VEGA Gene Model | MGI Sequence Detail 40336 C57BL/6J ±  kb
transcript OTTMUST00000014833 VEGA | MGI Sequence Detail 2599 Not Applicable 
polypeptide OTTMUSP00000006889 VEGA | MGI Sequence Detail 715 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(6) UniProt(4)
Polymorphisms
SNPs within 2kb(694 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016575 Bardet-Biedl syndrome 7 protein
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000004669 Bardet-Biedl syndrome 7 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(45)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory