VAPB (VAMP associated protein B and C)

2013-03-01  

Identity

HGNC
LOCATION
20q13.32
LOCUSID
ALIAS
ALS8,VAMP-B,VAP-B
FUSION GENES

Other Information

Locus ID:

NCBI: 9217
MIM: 605704
HGNC: 12649
Ensembl: ENSG00000124164

Variants:

dbSNP: 9217
ClinVar: 9217
TCGA: ENSG00000124164
COSMIC: VAPB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124164ENST00000395802O95292
ENSG00000124164ENST00000475243O95292
ENSG00000124164ENST00000475243Q53XM7
ENSG00000124164ENST00000520497E5RK64

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221313692012VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis.124
185557742008The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors.94
216852052011Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.83
178046402007Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.78
165716692006Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.74
274198712016Endosome-ER Contacts Control Actin Nucleation and Retromer Function through VAP-Dependent Regulation of PI4P.74
155452722005Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction.63
168913052006Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).60
205770022010SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.59
205770022010SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.59

Citation

Dessen P

VAPB (VAMP associated protein B and C)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53207/vapb