BBS7

GENE INFORMATION

? »

Gene name

BBS7 (HGNC Symbol)

Synonyms

BBS2L1, FLJ10715

Description

Bardet-Biedl syndrome 7 (HGNC Symbol)

Entrez gene summary

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

Chromosome

4

Cytoband

q27

Chromosome location (bp)

122745595 - 122791652

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000138686 (version 75.37)

Entrez gene

55212

UniProt

Q8IWZ6 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IWZ6

Antibodypedia

BBS7 antibodies
 

PROTEIN VIEW

? »
 
 
 
BBS7-001
 
BBS7-003
 
BBS7-007
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BBS7-001 ENSP00000264499
ENST00000264499
Q8IWZ6
Show all »
Show » Show » 715 80.4 No 0
BBS7-003 ENSP00000423626
ENST00000506636
Q8IWZ6
Show all »
Show » Show » 672 75.4 No 0
BBS7-007 ENSP00000423250
ENST00000507814
H0Y973
Show all »
Show » Show » 138 16.1 No 0