About   Help   FAQ
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 zebrafish

Protein SuperFamily: Bardet-Biedl syndrome 7 protein
Gene Tree: Bbs7

Human
homologs
Human Homolog BBS7, Bardet-Biedl syndrome 7
NCBI Gene ID 55212
neXtProt AC  NX_Q8IWZ6
Human Synonyms  BBS2L1
Human Chr (Location)  4q27; chr4:121824329-121870497 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human BBS7
Alleles
and
phenotypes
All alleles(6) : Gene trapped(3) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit nromal eye, neurocranial and limb development.
 
Gene Ontology
(GO)
classifications
All GO classifications: (28 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 (77)    Tissues (52)    Images (27)
Theiler Stages: 1, 2, 3, 5, 19, 20, 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 68
RT-PCR 9
cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(17) Genomic(1) cDNA(15) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000006487 (Evidence)
Ensembl Gene ModelENSMUSG00000037325 (Evidence)
Entrez Gene71492 (Evidence)
UniGene286187
DFCITC1579121
DoTSDT.94262111, DT.99839595
NIA Mouse Gene IndexU023950
Consensus CDS ProjectCCDS17314.2
International Mouse Knockout Project StatusBbs7
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(41)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory