Gene: ATP1A2

Alternate names for this Gene: FHM2|MHP2

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.2

Description of this Gene: ATPase Na+/K+ transporting subunit alpha 2

Type of Gene: protein-coding

rs28934002 in ATP1A2 gene and ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 PMID 15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

rs1558005340 in ATP1A2 gene and Arthrogryposis PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1558005340 in ATP1A2 gene and Epilepsy PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs149144720 in ATP1A2 gene and Familial Hemiplegic Migraine PMID 24921013 2014 Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.

PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

PMID 19874388 2009 Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.

PMID 21352219 2011 Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.

rs1553245943 in ATP1A2 gene and Hemiplegic migraine, familial type 1 PMID 19458722 2009 Crystal structure of the sodium-potassium pump at 2.4 A resolution.

PMID 18028407 2008 Epilepsy as part of the phenotype associated with ATP1A2 mutations.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24921013 2014 Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.

rs1321655 in ATP1A2 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1558005340 in ATP1A2 gene and Hydrops Fetalis PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1321655 in ATP1A2 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1553245771 in ATP1A2 gene and MIGRAINE, FAMILIAL HEMIPLEGIC, 2 PMID 23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PMID 23838748 2013 Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

PMID 12953268 2003 Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

PMID 12539047 2003 Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

PMID 21352219 2011 Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.

rs1558005340 in ATP1A2 gene and Malformations of Cortical Development, Group II PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1553245178 in ATP1A2 gene and Movement Disorders PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

PMID 15286158 2004 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

PMID 16088919 2005 ATP1A2 mutations in 11 families with familial hemiplegic migraine.

PMID 23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PMID 16344534 2005 Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

PMID 14667076 2003 Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

PMID 15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 25138102 2015 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

PMID 1361034 1992 A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

PMID 28811059 2017 An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

PMID 17473835 2007 First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

rs1553245943 in ATP1A2 gene and Overgrowth PMID 23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PMID 16344534 2005 Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

PMID 25138102 2015 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

PMID 16088919 2005 ATP1A2 mutations in 11 families with familial hemiplegic migraine.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 1361034 1992 A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

PMID 14667076 2003 Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

PMID 28811059 2017 An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

PMID 15286158 2004 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

PMID 15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

PMID 17473835 2007 First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

rs1321655 in ATP1A2 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1321655 in ATP1A2 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1321655 in ATP1A2 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11265329 in ATP1A2 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).