ATP1A3 Chromosome 19
ATPase Na+/K+ transporting subunit alpha 3
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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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
ATPase Na+/K+ transporting subunits
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105409
Associated Conditions (31)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
Developmental and epileptic encephalopathy 99
ATP1A3-related disorder
Inborn genetic diseases
Neurodevelopmental delay
ATP1A3-associated neurological disorder
Seizure
Intellectual disability
Epileptic encephalopathy
Undetermined early-onset epileptic encephalopathy
Alternating hemiplegia of childhood
Tetraparesis
Dystonic disorder
Oculogyric crisis
Seizures
benign familial neonatal
1
Global developmental delay
+11 more conditions
Key Variants
RS1064795403
Conflicting classifications of pathogenicity
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Alternating hemiplegia of childhood 2
Health Risk
RS1085307933
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS1131691436
Conflicting classifications of pathogenicity
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Developmental and epileptic encephalopathy 99
Health Risk
RS1131691813
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS1353417724
Conflicting classifications of pathogenicity
Alternating hemiplegia of childhood 2, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Health Risk
RS141362710
Conflicting classifications of pathogenicity
Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
Health Risk
RS1439299124
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS145179304
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS149600313
Conflicting classifications of pathogenicity
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99
Health Risk
RS150785666
Conflicting classifications of pathogenicity
Dystonia 12, Alternating hemiplegia of childhood 2, Inborn genetic diseases
Health Risk
RS1555859150
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS1555860861
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
All Variants (187)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2514032270 | Health Risk | Likely pathogenic | Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2 |
| RS2514050218 | Health Risk | Likely pathogenic | Dystonia 12, Dystonia 12 |
| RS2514054212 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 99, Dystonia 12, Developmental and epileptic encephalopathy 99 |
| RS2514056258 | Health Risk | Likely pathogenic | — |
| RS2514066934 | Health Risk | Likely pathogenic | Dystonia 12, Dystonia 12 |
| RS2514075131 | Health Risk | Likely pathogenic | Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2 |
| RS2514079611 | Health Risk | Likely pathogenic | ATP1A3-associated neurological disorder, Dystonia 12, ATP1A3-associated neurological disorder |
| RS397515577 | Health Risk | Likely pathogenic | Dystonia 12, Dystonia 12, Dystonia 12 |
| RS549006436 | Health Risk | Likely pathogenic | Dystonia 12, Dystonia 12 |
| RS606231430 | Health Risk | Likely pathogenic | Alternating hemiplegia of childhood, Alternating hemiplegia of childhood |
| RS606231436 | Health Risk | Likely pathogenic | — |
| RS606231439 | Health Risk | Likely pathogenic | Dystonia 12, Developmental and epileptic encephalopathy 99, Dystonia 12 |
| RS606231444 | Health Risk | Likely pathogenic | Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12 |
| RS80356535 | Health Risk | Likely pathogenic | Dystonia 12, Dystonia 12 |
| RS80356537 | Health Risk | Likely pathogenic | Dystonia 12, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| RS868985739 | Health Risk | Likely pathogenic | — |
| RS879975642 | Health Risk | Likely pathogenic | ATP1A3-related disorder, ATP1A3-related disorder |
| RS1060500993 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS1555859144 | Health Risk | Pathogenic | — |
| RS1555859157 | Health Risk | Pathogenic | Inborn genetic diseases, Dystonia 12, Inborn genetic diseases |
| RS1555863623 | Health Risk | Pathogenic | Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2 |
| RS1555863693 | Health Risk | Pathogenic | Dystonia 12, Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2 |
| RS1568853466 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12, Dystonia 12 |
| RS2075071528 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2075071667 | Health Risk | Pathogenic | Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2 |
| RS2075090666 | Health Risk | Pathogenic | Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12 |
| RS2075158686 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2145945805 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2145945849 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2145945980 | Health Risk | Pathogenic | — |
| RS2145946065 | Health Risk | Pathogenic | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| RS2145959393 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2145971509 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2145972429 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2145972483 | Health Risk | Pathogenic | Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2 |
| RS2145972497 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 99, Dystonia 12, Developmental and epileptic encephalopathy 99 |
| RS2145977758 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99 |
| RS2145977887 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99 |
| RS2514022206 | Health Risk | Pathogenic | — |
| RS2514023544 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2514025233 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2514032458 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99 |
| RS2514032567 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2514046994 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2514047021 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2514054481 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2514065578 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS2514084596 | Health Risk | Pathogenic | Dystonia 12, Dystonia 12 |
| RS267606670 | Health Risk | Pathogenic | Dystonia 12, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| RS387907281 | Health Risk | Pathogenic | Alternating hemiplegia of childhood 2, Dystonia 12, Global developmental delay |