VPS13B (vacuolar protein sorting 13 homolog B)

2014-11-01  

Identity

HGNC
LOCATION
8q22.2
LOCUSID
ALIAS
CHS1,COH1
FUSION GENES

Other Information

Locus ID:

NCBI: 157680
MIM: 607817
HGNC: 2183
Ensembl: ENSG00000132549

Variants:

dbSNP: 157680
ClinVar: 157680
TCGA: ENSG00000132549
COSMIC: VPS13B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132549ENST00000355155Q7Z7G8
ENSG00000132549ENST00000357162Q7Z7G8
ENSG00000132549ENST00000358544Q7Z7G8
ENSG00000132549ENST00000441350Q7Z7G8
ENSG00000132549ENST00000496144Q7Z7G8
ENSG00000132549ENST00000521559H0YB72

Expression (GTEx)

0
5
10
15
20

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
127308282003Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.68
218651732011Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.27
151413582004Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.23
193207332009Pigmentation-related genes and their implication in malignant melanoma susceptibility.20
254928662015Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.18
195336892009Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.17
190062472009Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.16
196805892010Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.15
196805892010Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.15

Citation

Dessen P

VPS13B (vacuolar protein sorting 13 homolog B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75625/vps13b-(vacuolar-protein-sorting-13-homolog-b)