ATP1A2 Chromosome 1
ATPase Na+/K+ transporting subunit alpha 2
Upload your DNA to see your personal genotypes for variants in ATP1A2.
What This Gene Does
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
ATPase Na+/K+ transporting subunits
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000018625
Associated Conditions (21)
Migraine
familial hemiplegic
2
Familial hemiplegic migraine
Inborn genetic diseases
Alternating hemiplegia of childhood 1
Fetal akinesia
respiratory insufficiency
microcephaly
polymicrogyria
and dysmorphic facies
Developmental and epileptic encephalopathy 98
ATP1A2-related disorder
See cases
Hemiplegic migraine-developmental and epileptic encephalopathy spectrum
Epileptic encephalopathy
Alternating hemiplegia of childhood
familial basilar
Polymicrogyria
Spastic ataxia
+1 more conditions
Key Variants
RS121918614
Conflicting classifications of pathogenicity
Migraine, familial hemiplegic, 2
Health Risk
RS121918620
Conflicting classifications of pathogenicity
Migraine, familial hemiplegic, 2
Health Risk
RS1226796744
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Familial hemiplegic migraine
Health Risk
RS1236883845
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Inborn genetic diseases, Familial hemiplegic migraine
Health Risk
RS139229302
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Alternating hemiplegia of childhood 1, Migraine
Health Risk
RS139243866
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Familial hemiplegic migraine
Health Risk
RS139499540
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Alternating hemiplegia of childhood 1, Fetal akinesia
Health Risk
RS141467566
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Alternating hemiplegia of childhood 1, Migraine
Health Risk
RS1422290691
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Familial hemiplegic migraine
Health Risk
RS142309356
Conflicting classifications of pathogenicity
Familial hemiplegic migraine, Familial hemiplegic migraine
Health Risk
RS142348542
Conflicting classifications of pathogenicity
Alternating hemiplegia of childhood 1, Familial hemiplegic migraine, Migraine
Health Risk
RS143969080
Conflicting classifications of pathogenicity
Alternating hemiplegia of childhood 1, Migraine, familial hemiplegic
Health Risk
All Variants (187)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2101985522 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2101995474 | Health Risk | Likely pathogenic | — |
| RS2101995480 | Health Risk | Likely pathogenic | Alternating hemiplegia of childhood 1, Alternating hemiplegia of childhood 1 |
| RS2101995847 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2101995864 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Migraine, familial hemiplegic |
| RS2102000044 | Health Risk | Likely pathogenic | — |
| RS2524837524 | Health Risk | Likely pathogenic | Migraine, familial hemiplegic, 2 |
| RS2524854159 | Health Risk | Likely pathogenic | ATP1A2-related disorder, ATP1A2-related disorder |
| RS2524856473 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524865450 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524865483 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Inborn genetic diseases, Familial hemiplegic migraine |
| RS2524867724 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 98, Developmental and epileptic encephalopathy 98 |
| RS2524867863 | Health Risk | Likely pathogenic | — |
| RS2524868404 | Health Risk | Likely pathogenic | ATP1A2-related disorder, ATP1A2-related disorder |
| RS2524872645 | Health Risk | Likely pathogenic | — |
| RS2524873236 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524886286 | Health Risk | Likely pathogenic | — |
| RS2524886291 | Health Risk | Likely pathogenic | — |
| RS2524887627 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524888314 | Health Risk | Likely pathogenic | ATP1A2-related disorder, ATP1A2-related disorder |
| RS2524903070 | Health Risk | Likely pathogenic | — |
| RS28933400 | Health Risk | Likely pathogenic | Migraine, familial hemiplegic, 2 |
| RS28933401 | Health Risk | Likely pathogenic | Migraine, familial hemiplegic, 2 |
| RS746362740 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS746383817 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS773117459 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS775008062 | Health Risk | Likely pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1057518514 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1209724722 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS121918612 | Health Risk | Pathogenic | Migraine, familial hemiplegic, 2 |
| RS121918613 | Health Risk | Pathogenic | Migraine, familial hemiplegic, 2 |
| RS121918615 | Health Risk | Pathogenic | Migraine, familial hemiplegic, 2 |
| RS121918616 | Health Risk | Pathogenic | Migraine, familial basilar, Familial hemiplegic migraine |
| RS140707454 | Health Risk | Pathogenic | — |
| RS1414742926 | Health Risk | Pathogenic | Familial hemiplegic migraine, ATP1A2-related disorder, Familial hemiplegic migraine |
| RS1469902667 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS149144720 | Health Risk | Pathogenic | Familial hemiplegic migraine, Migraine, familial hemiplegic |
| RS1553244746 | Health Risk | Pathogenic | Inborn genetic diseases, Alternating hemiplegia of childhood 1, Inborn genetic diseases |
| RS1553245178 | Health Risk | Pathogenic | Inborn genetic diseases, Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1553245659 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1553245771 | Health Risk | Pathogenic | Familial hemiplegic migraine, Migraine, familial hemiplegic |
| RS1553245857 | Health Risk | Pathogenic | Familial hemiplegic migraine, Migraine, familial hemiplegic |
| RS1558003446 | Health Risk | Pathogenic | Polymicrogyria, Fetal akinesia, respiratory insufficiency |
| RS1558005340 | Health Risk | Pathogenic | Fetal akinesia, respiratory insufficiency, microcephaly |
| RS1558008455 | Health Risk | Pathogenic | Fetal akinesia, respiratory insufficiency, microcephaly |
| RS1558008759 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1558010146 | Health Risk | Pathogenic | Polymicrogyria, Fetal akinesia, respiratory insufficiency |
| RS1570990484 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1651475047 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS1651727299 | Health Risk | Pathogenic | Familial hemiplegic migraine, Familial hemiplegic migraine |