ATP1A2 ATPase Na+/K+ transporting subunit alpha 2
Gene ID: 477, updated on 5-May-2024Gene type: protein coding
Also known as: FHM2; MHP2; DEE98; FARIMPD
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- Go to complete Gene record for ATP1A2
- Go to Variation Viewer for ATP1A2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alternating hemiplegia of childhood 1 | See labs |
| Developmental and epileptic encephalopathy 98 | See labs |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | See labs |
| Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. GeneReviews: Not available | |
| Migraine, familial hemiplegic, 2 | See labs |
Genomic context
- Location:
- 1q23.2
- Sequence:
- Chromosome: 1; NC_000001.11 (160115759..160143591)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP1A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (ATP1A2) @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Familial Hemiplegic Migraine (FHM) Variation Database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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