BBS7 (Bardet-Biedl syndrome 7)

2014-11-01  

Identity

HGNC
LOCATION
4q27
LOCUSID
ALIAS
BBS2L1

Other Information

Locus ID:

NCBI: 55212
MIM: 607590
HGNC: 18758
Ensembl: ENSG00000138686

Variants:

dbSNP: 55212
ClinVar: 55212
TCGA: ENSG00000138686
COSMIC: BBS7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138686ENST00000264499Q8IWZ6
ENSG00000138686ENST00000506636Q8IWZ6
ENSG00000138686ENST00000507814H0Y973

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
125673242003Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.68
194021602009BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.13
194021602009BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.13
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
190774382009Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.10
270046162016Expansion of phenotype and genotypic data in CRB2-related syndrome.9
287613212017Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.5
190930072008A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.4
255533082015Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.4
314696632020A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.0

Citation

Dessen P

BBS7 (Bardet-Biedl syndrome 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60720/bbs7-(bardet-biedl-syndrome-7)