VPS26C |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- VPS26C (HGNC:3044) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- VPS26 endosomal protein sorting factor C
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DSCR3
- Alias symbols
- DCRA
- %HI
- 53.11(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.85(Read more about gnomAD LOEUF score)
- Cytoband
- 21q22.13
- Genomic Coordinates
-
GRCh37/hg19: chr21:38595721-38640409 NCBI Ensembl UCSC GRCh38/hg38: chr21:37223420-37268108 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006052.2 ENST00000309117.11 (Read more about MANE Select)
- Function
- Acts as a component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo prote... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4507
ClinGen Curation ID:
CCID:008098
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/25/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
This gene is within the DSCR.
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)