ATP6V0A4 Chromosome 7
ATPase H+ transporting V0 subunit a4
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What This Gene Does
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
V-type ATPase subunits
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000105929
Associated Conditions (15)
Renal tubular acidosis
distal
3
with or without sensorineural hearing loss
Autosomal recessive distal renal tubular acidosis
Renal tubular acidosis with progressive nerve deafness
Distal Renal Tubular Acidosis
Recessive
Inborn genetic diseases
Hepatocellular carcinoma
ATP6V0A4-related disorder
Renal tubulopathies
Distal renal tubular acidosis
Nonpapillary renal cell carcinoma
Sensorineural hearing loss disorder
Key Variants
RS121908368
Conflicting classifications of pathogenicity
Renal tubular acidosis, distal, 3
Health Risk
RS138627775
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
Health Risk
RS142818468
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Distal Renal Tubular Acidosis, Recessive
Health Risk
RS143558330
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
Health Risk
RS144172463
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
Health Risk
RS147301634
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Inborn genetic diseases, Autosomal recessive distal renal tubular acidosis
Health Risk
RS147476317
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal
Health Risk
RS186717040
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal
Health Risk
RS186997078
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
Health Risk
RS201044613
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
Health Risk
RS201174170
Conflicting classifications of pathogenicity
Autosomal recessive distal renal tubular acidosis, ATP6V0A4-related disorder, Autosomal recessive distal renal tubular acidosis
Health Risk
RS2117166318
Conflicting classifications of pathogenicity
Renal tubular acidosis, distal, 3
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2117291505 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS2485268325 | Health Risk | Pathogenic | ATP6V0A4-related disorder, ATP6V0A4-related disorder |
| RS2485286473 | Health Risk | Pathogenic | — |
| RS2485855824 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS566440675 | Health Risk | Pathogenic | — |
| RS587776616 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS587776617 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS748968589 | Health Risk | Pathogenic | — |
| RS769417807 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS773840097 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS779869631 | Health Risk | Pathogenic | — |
| RS868326109 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 3 |
| RS1064796270 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis |
| RS1252623454 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Renal tubular acidosis, distal |
| RS1384393001 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal |
| RS1443883930 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Distal renal tubular acidosis, Renal tubular acidosis |
| RS1806015333 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular acidosis, distal, 3 |
| RS28939081 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal |
| RS370861594 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular acidosis, distal, 3 |
| RS587776615 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular acidosis, distal, 3 |
| RS746982385 | Health Risk | Pathogenic/Likely pathogenic | Sensorineural hearing loss disorder, Renal tubulopathies, Renal tubular acidosis |
| RS753232747 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal |
| RS754517968 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal |
| RS763982675 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, ATP6V0A4-related disorder, Renal tubular acidosis |
| RS766587351 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular acidosis, distal, 3 |
| RS769164245 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis, distal |
| RS776867749 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular acidosis, distal, 3 |