VPS13D (vacuolar protein sorting 13 homolog D)

2003-05-01  

Identity

HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
SCAR4
FUSION GENES

Other Information

Locus ID:

NCBI: 55187
MIM: 608877
HGNC: 23595
Ensembl: ENSG00000048707

Variants:

dbSNP: 55187
ClinVar: 55187
TCGA: ENSG00000048707
COSMIC: VPS13D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000048707ENST00000011700H3BLS7
ENSG00000048707ENST00000466732R4GMW1
ENSG00000048707ENST00000543766F5GX56
ENSG00000048707ENST00000613099Q5THJ4
ENSG00000048707ENST00000620676Q5THJ4
ENSG00000048707ENST00000645371A0A2R8Y876
ENSG00000048707ENST00000646917A0A2R8YD87

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
296042242018Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.19
295182812018Recessive mutations in VPS13D cause childhood onset movement disorders.15
206108952010Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.10
258964172015VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.1

Citation

Dessen P

VPS13D (vacuolar protein sorting 13 homolog D)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42796/vps13d-(vacuolar-protein-sorting-13-homolog-d)