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; chr4:122745484-122791652 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BBS7

Alleles and phenotypes

All alleles(5) : Targeted(2) Gene trapped(3)
 

Mice homozygous for a knock-out allele exhibit nromal eye, neurocranial and limb development.

 

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	brain development, eye development, ...
Component	BBSome, cell projection, ...
Function	molecular_function

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 Type	Results
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 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 Knockout Project Status	Bbs7

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006487	VEGA Gene Model | MGI Sequence Detail	40336	C57BL/6J
transcript	OTTMUST00000014825	VEGA | MGI Sequence Detail	2687	Not Applicable
polypeptide	OTTMUSP00000006888	VEGA | MGI Sequence Detail	715	Not Applicable

All sequences(37) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(244 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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: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(37)