VPS53 Chromosome 17
VPS53 subunit of GARP complex
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What This Gene Does
Involved in endocytic recycling and retrograde transport, endosome to Golgi. Acts upstream of or within lysosomal transport. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and recycling endosome. Part of EARP complex and GARP complex. Implicated in pontocerebellar hypoplasia type 2E. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex"
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000141252
Associated Conditions (3)
Inborn genetic diseases
Pontocerebellar hypoplasia type 2E
Pontoneocerebellar hypoplasia
Key Variants
RS368948099
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370828258
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS561656938
Conflicting classifications of pathogenicity
Health Risk
RS768997239
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS781484164
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS1335346154
Likely pathogenic
Health Risk
RS1447478732
Likely pathogenic
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS1472685858
Likely pathogenic
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS200594402
Likely pathogenic
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS587777465
Pathogenic
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
Health Risk
RS587777466
Pathogenic/Likely pathogenic
Pontocerebellar hypoplasia type 2E, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2E
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368948099 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370828258 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS561656938 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768997239 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS781484164 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS1335346154 | Health Risk | Likely pathogenic | — |
| RS1447478732 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS1472685858 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS200594402 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS587777465 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS587777466 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2E, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2E |