VPS26C (VPS26 endosomal protein sorting factor C)

2018-11-01  

Identity

HGNC
LOCATION
21q22.13
LOCUSID
ALIAS
DCRA,DSCR3,DSCRA

Other Information

Locus ID:

NCBI: 10311
MIM: 605298
HGNC: 3044
Ensembl: ENSG00000157538

Variants:

dbSNP: 10311
ClinVar: 10311
TCGA: ENSG00000157538
COSMIC: VPS26C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157538ENST00000309117O14972
ENSG00000157538ENST00000398998A8MTY9
ENSG00000157538ENST00000399001A8MY26
ENSG00000157538ENST00000476950O14972

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
318453152020VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.0
318453152020VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.0
294950752018Vacuolar Protein Sorting 26C encodes an evolutionarily conserved large retromer subunit in eukaryotes that is important for root hair growth in Arabidopsis thaliana.13
294950752018Vacuolar Protein Sorting 26C encodes an evolutionarily conserved large retromer subunit in eukaryotes that is important for root hair growth in Arabidopsis thaliana.13
288920792017Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling.147
288920792017Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling.147

Citation

Dessen P

VPS26C (VPS26 endosomal protein sorting factor C)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80336/vps26c-(vps26-endosomal-protein-sorting-factor-c)