ATP8A2 Chromosome 13
ATPase phospholipid transporting 8A2
Upload your DNA to see your personal genotypes for variants in ATP8A2.
What This Gene Does
The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
ATPase phospholipid transporting
Locus Type
gene with protein product
Location
13q12.13
Ensembl
ENSG00000132932
Associated Conditions (7)
ATP8A2-related disorder
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 4
Inborn genetic diseases
Colon adenocarcinoma
Dysequilibrium syndrome
Key Variants
RS199641767
Conflicting classifications of pathogenicity
Health Risk
RS201904651
Conflicting classifications of pathogenicity
ATP8A2-related disorder, ATP8A2-related disorder
Health Risk
RS202017613
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Health Risk
RS202061089
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Health Risk
RS202073376
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Health Risk
RS369291641
Conflicting classifications of pathogenicity
ATP8A2-related disorder, ATP8A2-related disorder
Health Risk
RS567911133
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Health Risk
RS764838044
Conflicting classifications of pathogenicity
Health Risk
RS764956567
Conflicting classifications of pathogenicity
Inborn genetic diseases, ATP8A2-related disorder, Inborn genetic diseases
Health Risk
RS774959381
Conflicting classifications of pathogenicity
Health Risk
RS864309608
Conflicting classifications of pathogenicity
Health Risk
RS930632087
Conflicting classifications of pathogenicity
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199641767 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201904651 | Health Risk | Conflicting classifications of pathogenicity | ATP8A2-related disorder, ATP8A2-related disorder |
| RS202017613 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS202061089 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS202073376 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS369291641 | Health Risk | Conflicting classifications of pathogenicity | ATP8A2-related disorder, ATP8A2-related disorder |
| RS567911133 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS764838044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764956567 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ATP8A2-related disorder, Inborn genetic diseases |
| RS774959381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS864309608 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS930632087 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057522489 | Health Risk | Likely pathogenic | — |
| RS1064793377 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1064795309 | Health Risk | Likely pathogenic | — |
| RS1064795610 | Health Risk | Likely pathogenic | — |
| RS1304832284 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1435254326 | Health Risk | Likely pathogenic | — |
| RS1555263787 | Health Risk | Likely pathogenic | — |
| RS1566188424 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1566306570 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1593410369 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1593576872 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2035763126 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2038343394 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2038495764 | Health Risk | Likely pathogenic | — |
| RS2039720333 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2138177530 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2138765275 | Health Risk | Likely pathogenic | — |
| RS2542315282 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2542384109 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2542384306 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2542443619 | Health Risk | Likely pathogenic | — |
| RS2542625853 | Health Risk | Likely pathogenic | — |
| RS267603791 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS763272441 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1064795308 | Health Risk | Pathogenic | — |
| RS1085307694 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1265035795 | Health Risk | Pathogenic | — |
| RS1304109530 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1479265535 | Health Risk | Pathogenic | — |
| RS1593326999 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1593531290 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS1952385477 | Health Risk | Pathogenic | Dysequilibrium syndrome, Dysequilibrium syndrome |
| RS2038491713 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2039444431 | Health Risk | Pathogenic | — |
| RS2137911082 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2137994737 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |
| RS2542363272 | Health Risk | Pathogenic | — |
| RS2542426988 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 |