ATP11A Chromosome 13
ATPase phospholipid transporting 11A
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What This Gene Does
The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]
Gene Info
Gene Group
ATPase phospholipid transporting
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000068650
Associated Conditions (8)
Inborn genetic diseases
ATP11A-related disorder
Hearing loss
autosomal dominant 84
Leukodystrophy
hypomyelinating
24
Autosomal dominant nonsyndromic hearing loss 33
Key Variants
RS141611897
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142877948
Conflicting classifications of pathogenicity
ATP11A-related disorder, Inborn genetic diseases, ATP11A-related disorder
Health Risk
RS143014855
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143392665
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144619142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147994588
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2502119435
Likely pathogenic
Hearing loss, autosomal dominant 84, Hearing loss
Health Risk
RS2139425153
Pathogenic
Hearing loss, autosomal dominant 84, Hearing loss
Health Risk
RS2140138203
Pathogenic
Leukodystrophy, hypomyelinating, 24
Health Risk
RS2140433062
Pathogenic
Autosomal dominant nonsyndromic hearing loss 33, Hearing loss, autosomal dominant 84
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141611897 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142877948 | Health Risk | Conflicting classifications of pathogenicity | ATP11A-related disorder, Inborn genetic diseases, ATP11A-related disorder |
| RS143014855 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143392665 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144619142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147994588 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2502119435 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 84, Hearing loss |
| RS2139425153 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 84, Hearing loss |
| RS2140138203 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 24 |
| RS2140433062 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 33, Hearing loss, autosomal dominant 84 |