ATP6V0A2 Chromosome 12
ATPase H+ transporting V0 subunit a2
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What This Gene Does
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
V-type ATPase subunits
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000185344
Associated Conditions (8)
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder
Malignant tumor of urinary bladder
Inborn genetic diseases
Wrinkly skin syndrome
Cutis laxa
Lung cancer
Key Variants
RS138886791
Conflicting classifications of pathogenicity
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, ATP6V0A2-related disorder
Health Risk
RS139509075
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
Health Risk
RS139680786
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
Health Risk
RS139785866
Conflicting classifications of pathogenicity
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, ATP6V0A2-related disorder
Health Risk
RS140835376
Conflicting classifications of pathogenicity
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy
Health Risk
RS141467923
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ATP6V0A2-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
RS142454880
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ATP6V0A2-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
RS143142641
Conflicting classifications of pathogenicity
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, Inborn genetic diseases
Health Risk
RS143509747
Conflicting classifications of pathogenicity
Cutis laxa with osteodystrophy, Wrinkly skin syndrome, ALG9 congenital disorder of glycosylation
Health Risk
RS143802431
Conflicting classifications of pathogenicity
Cutis laxa with osteodystrophy, Wrinkly skin syndrome, ALG9 congenital disorder of glycosylation
Health Risk
RS146156426
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
Health Risk
RS146967928
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, Inborn genetic diseases, ALG9 congenital disorder of glycosylation
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1956462432 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy |
| RS1956561543 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS1956563926 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy |
| RS1956646992 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS1956686080 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS1956710372 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS1956768636 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2135879752 | Health Risk | Pathogenic | — |
| RS2135887401 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2135920743 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2541846029 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2541865278 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2541871623 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS367543007 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy |
| RS368924297 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS398124257 | Health Risk | Pathogenic | — |
| RS767257316 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy, Wrinkly skin syndrome |
| RS774222226 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS776509864 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS794727643 | Health Risk | Pathogenic | — |
| RS80356750 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, Cutis laxa, ALG9 congenital disorder of glycosylation |
| RS80356751 | Health Risk | Pathogenic | Wrinkly skin syndrome, Cutis laxa with osteodystrophy, Lung cancer |
| RS80356753 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy |
| RS80356755 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy |
| RS80356758 | Health Risk | Pathogenic | Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy |
| RS958086368 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS374480381 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa with osteodystrophy, Wrinkly skin syndrome, ALG9 congenital disorder of glycosylation |
| RS745590426 | Health Risk | Pathogenic/Likely pathogenic | ALG9 congenital disorder of glycosylation, Cutis laxa, Cutis laxa with osteodystrophy |