ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP1A2provided by HGNC
Official Full Name: ATPase Na+/K+ transporting subunit alpha 2provided by HGNC
Primary source: HGNC:HGNC:800
See related: Ensembl:ENSG00000018625 MIM:182340; AllianceGenome:HGNC:800
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FHM2; MHP2; DEE98; FARIMPD
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]
Expression: Biased expression in brain (RPKM 189.3), heart (RPKM 37.1) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 1q23.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160115759..160143591)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159252841..159280677)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160085549..160113381)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
Title: ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Title: The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases.
Title: Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases.
Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.
Title: Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.
Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2.
Title: Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Title: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
Title: Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine.
Title: Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine.
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Title: A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.
Title: Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Submit: New GeneRIF Correction See all GeneRIFs (97)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alternating hemiplegia of childhood 1 MedGen: C3549447 OMIM: 104290 GeneReviews: Not available	not available
Developmental and epileptic encephalopathy 98 MedGen: C5562017 OMIM: 619605 GeneReviews: Not available	not available
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MedGen: C5562015 OMIM: 619602 GeneReviews: Not available	not available
Migraine, familial hemiplegic, 2 MedGen: C1865322 OMIM: 602481 GeneReviews: Familial Hemiplegic Migraine	not available

EBI GWAS Catalog

Description
Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69645 (e-PCR)
- UniSTS:64522

A005C13 (e-PCR)
- UniSTS:17996

G32224 (e-PCR)
- UniSTS:116830

ATP1A2_1794 (e-PCR)
- UniSTS:280454

SHGC-31641 (e-PCR)
- UniSTS:30353

D1S2042E (e-PCR)
- UniSTS:151488

D1S1763E (e-PCR)
- UniSTS:150477

WI-21610 (e-PCR)
- UniSTS:14294

ATP1A2 (e-PCR)
- UniSTS:503792

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type sodium:potassium-exchanging transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables steroid binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid hormone binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-ascorbic acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within amygdala development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within behavioral fear response	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in cell communication by electrical coupling involved in cardiac conduction	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to steroid hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	IEA Inferred from Electronic Annotation more info
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	IC Inferred by Curator more info	PubMed
involved_in intracellular potassium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within locomotion	ISS Inferred from Sequence or Structural Similarity more info
involved_in locomotory exploration behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane depolarization during cardiac muscle cell action potential	TAS Traceable Author Statement more info	PubMed
involved_in membrane repolarization	TAS Traceable Author Statement more info	PubMed
involved_in monoatomic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic cation transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of calcium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of striated muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in neuronal action potential propagation	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter uptake	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within olfactory cortex development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IC Inferred by Curator more info	PubMed
involved_in potassium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in potassium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of glutamate uptake involved in transmission of nerve impulse	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of striated muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of synaptic transmission, glutamatergic	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of the force of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in relaxation of cardiac muscle	TAS Traceable Author Statement more info	PubMed
involved_in response to auditory stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to glycoside	IC Inferred by Curator more info	PubMed
involved_in response to glycoside	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sodium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	IGI Inferred from Genetic Interaction more info	PubMed
located_in caveola	IEA Inferred from Electronic Annotation more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
located_in cell projection	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular vesicle	HDA more info	PubMed
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in organelle membrane	IGI Inferred from Genetic Interaction more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium:potassium-exchanging ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium:potassium-exchanging ATPase complex	IC Inferred by Curator more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IGI Inferred from Genetic Interaction more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit alpha-2

Names: ATPase Na+/K+ transporting alpha 2 polypeptide; Na(+)/K(+) ATPase alpha-2 subunit; Na+/K+ ATPase, alpha-A(+) catalytic polypeptide; Na+/K+ ATPase, alpha-B polypeptide; sodium pump subunit alpha-2; sodium-potassium ATPase catalytic subunit alpha-2; sodium/potassium-transporting ATPase alpha-2 chain

NP_000693.1

EC 7.2.2.13

XP_047277242.1

EC 7.2.2.13

XP_054192734.1

EC 7.2.2.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.