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

    Gene ID: 477, updated on 5-Jan-2022

    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
    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
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    Genomic context

    See ATP1A2 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160115759..160143591)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160085549..160113381)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin superfamily member 8 Neighboring gene Sharpr-MPRA regulatory region 5459 Neighboring gene ATPase Na+/K+ transporting subunit alpha 4 Neighboring gene calsequestrin 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alternating hemiplegia of childhood 1
    MedGen: C3549447 OMIM: 104290 GeneReviews: Not available
    Compare labs
    DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98
    MedGen: CN301232 OMIM: 619605 GeneReviews: Not available
    not available
    Familial hemiplegic migraine type 2
    MedGen: C1865322 OMIM: 602481 GeneReviews: Familial Hemiplegic Migraine
    Compare labs
    FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
    MedGen: CN301231 OMIM: 619602 GeneReviews: Not available
    not available
    Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC59864

    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 cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase-coupled 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
    PubMed 
    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 chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 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 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 cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cation transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell communication by electrical coupling involved in cardiac conduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular potassium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular potassium ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cellular potassium ion homeostasis IDA
    Inferred from Direct Assay
    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 cellular sodium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular sodium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment or maintenance of transmembrane electrochemical gradient IEA
    Inferred from Electronic Annotation
    more info
     
    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 negative regulation of calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of calcium:sodium antiporter activity 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 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
    PubMed 
    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
    PubMed 
    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 sodium ion export across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    located_in cell projection ISS
    Inferred from Sequence or Structural Similarity
    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 endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular vesicle HDA 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 
    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 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

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008014.1 RefSeqGene

      Range
      4973..32834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_6

    mRNA and Protein(s)

    1. NM_000702.4NP_000693.1  sodium/potassium-transporting ATPase subunit alpha-2 precursor

      See identical proteins and their annotated locations for NP_000693.1

      Status: REVIEWED

      Source sequence(s)
      BC013680, BC052271, DA221602, EB386326
      Consensus CDS
      CCDS1196.1
      UniProtKB/Swiss-Prot
      P50993
      UniProtKB/TrEMBL
      A0A0S2Z3W6
      Related
      ENSP00000354490.3, ENST00000361216.8
      Conserved Domains (1) summary
      TIGR01106
      Location:301020
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      160115759..160143591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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