ATP13A3 Chromosome 3
ATPase 13A3
Upload your DNA to see your personal genotypes for variants in ATP13A3.
What This Gene Does
ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
Gene Info
Gene Group
ATPase orphan transporters
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000133657
Associated Conditions (5)
Pulmonary arterial hypertension
Pulmonary hypertension
primary
5
Uterine corpus endometrial carcinoma
Key Variants
RS143954739
Conflicting classifications of pathogenicity
Health Risk
RS200264100
Conflicting classifications of pathogenicity
Health Risk
RS200914446
Conflicting classifications of pathogenicity
Pulmonary arterial hypertension, Pulmonary hypertension, primary
Health Risk
RS201518494
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS1489314131
Likely pathogenic
Pulmonary arterial hypertension, Pulmonary hypertension, primary
Health Risk
RS2108829926
Likely pathogenic
Pulmonary arterial hypertension, Pulmonary hypertension, primary
Health Risk
RS1560082927
Pathogenic
Pulmonary arterial hypertension, Pulmonary hypertension, primary
Health Risk
RS2474198676
Pathogenic
Health Risk
RS746602775
Pathogenic
Pulmonary arterial hypertension, Pulmonary hypertension, primary
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143954739 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200264100 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200914446 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary arterial hypertension, Pulmonary hypertension, primary |
| RS201518494 | Health Risk | Conflicting classifications of pathogenicity | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS1489314131 | Health Risk | Likely pathogenic | Pulmonary arterial hypertension, Pulmonary hypertension, primary |
| RS2108829926 | Health Risk | Likely pathogenic | Pulmonary arterial hypertension, Pulmonary hypertension, primary |
| RS1560082927 | Health Risk | Pathogenic | Pulmonary arterial hypertension, Pulmonary hypertension, primary |
| RS2474198676 | Health Risk | Pathogenic | — |
| RS746602775 | Health Risk | Pathogenic | Pulmonary arterial hypertension, Pulmonary hypertension, primary |