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

Gene ID: 477, updated on 6-Nov-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; 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
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Genomic context

See ATP1A2 in Genome Data Viewer
Location:
1q23.2
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160115759..160143591)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159252841..159280677)
105.20220307 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

EBI GWAS Catalog

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

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 IBA
Inferred from Biological aspect of Ancestor
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 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
 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
XP_047277242.1

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, Q9UQ25
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047421286.1XP_047277242.1  sodium/potassium-transporting ATPase subunit alpha-2 isoform X1

    UniProtKB/TrEMBL
    B4DIQ8
    Related
    ENSP00000411705.1, ENST00000447527.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159252841..159280677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)