VPS13C (vacuolar protein sorting 13 homolog C)

2019-08-01  

Identity

HGNC
LOCATION
15q22.2
LOCUSID
ALIAS
PARK23

Other Information

Locus ID:

NCBI: 54832
MIM: 608879
HGNC: 23594
Ensembl: ENSG00000129003

Variants:

dbSNP: 54832
ClinVar: 54832
TCGA: ENSG00000129003
COSMIC: VPS13C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129003ENST00000249837Q709C8
ENSG00000129003ENST00000395898Q709C8
ENSG00000129003ENST00000644861Q709C8
ENSG00000129003ENST00000645819Q709C8
ENSG00000129003ENST00000649766A0A3B3IU50
ENSG00000129003ENST00000650094A0A3B3IT88

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383583482024VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons.0
383583482024VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons.0
348755622022VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.6
356576052022ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling.30
358583232022In situ architecture of the lipid transport protein VPS13C at ER-lysosome membrane contacts.23
348755622022VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.6
356576052022ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling.30
358583232022In situ architecture of the lipid transport protein VPS13C at ER-lysosome membrane contacts.23
335793892021Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.18
338382592021Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.0
335793892021Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.18
338382592021Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.0
325074142020Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease.10
330397642020Familial dementia with Lewy bodies with VPS13C mutations.2
330878482020TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.12

Citation

Dessen P

VPS13C (vacuolar protein sorting 13 homolog C)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58149/vps13c-(vacuolar-protein-sorting-13-homolog-c)