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

Gene ID: 477, updated on 4-Jan-2025

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
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_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160054388-160054918 Neighboring gene potassium inwardly rectifying channel subfamily J member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066015-160066541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066542-160067070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160067071-160067597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160070686-160071186 Neighboring gene immunoglobulin superfamily member 8 Neighboring gene Sharpr-MPRA regulatory region 5459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160079539-160080060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160081809-160082428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160082429-160083048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160083669-160084287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160085040-160085823 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 Neighboring gene ATPase Na+/K+ transporting subunit alpha 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160135860-160136392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160138857-160139851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876 Neighboring gene calsequestrin 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Clone Names

  • MGC59864

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding PubMed 
enables ATP hydrolysis activity PubMed 
enables ATPase-coupled monoatomic cation transmembrane transporter activity PubMed 
enables ATPase-coupled monoatomic cation transmembrane transporter activity PubMed 
enables P-type sodium:potassium-exchanging transporter activity  
enables P-type sodium:potassium-exchanging transporter activity PubMed 
enables P-type sodium:potassium-exchanging transporter activity PubMed 
enables P-type sodium:potassium-exchanging transporter activity PubMed 
enables P-type sodium:potassium-exchanging transporter activity  
enables phosphatase activity  
enables potassium ion binding PubMed 
enables protein binding PubMed 
enables protein heterodimerization activity  
enables protein-folding chaperone binding PubMed 
enables sodium ion binding PubMed 
enables steroid binding PubMed 
enables steroid hormone binding PubMed 
Items 1 - 25 of 58
Process Evidence Code Pubs
involved_in ATP metabolic process PubMed 
involved_in L-ascorbic acid metabolic process  
involved_in adult locomotory behavior  
acts_upstream_of_or_within amygdala development  
acts_upstream_of_or_within behavioral fear response  
involved_in cardiac muscle contraction PubMed 
involved_in cell communication by electrical coupling involved in cardiac conduction PubMed 
involved_in cellular response to mechanical stimulus  
involved_in cellular response to steroid hormone stimulus PubMed 
involved_in establishment or maintenance of transmembrane electrochemical gradient  
involved_in intracellular potassium ion homeostasis  
involved_in intracellular potassium ion homeostasis PubMed 
involved_in intracellular potassium ion homeostasis PubMed 
involved_in intracellular sodium ion homeostasis  
involved_in intracellular sodium ion homeostasis PubMed 
acts_upstream_of_or_within locomotion  
involved_in locomotory exploration behavior  
involved_in membrane depolarization during cardiac muscle cell action potential PubMed 
involved_in membrane repolarization PubMed 
involved_in monoatomic cation transmembrane transport PubMed 
involved_in monoatomic cation transmembrane transport PubMed 
involved_in negative regulation of calcium ion transmembrane transport  
acts_upstream_of_or_within negative regulation of cytosolic calcium ion concentration  
acts_upstream_of_or_within negative regulation of heart contraction  
involved_in negative regulation of striated muscle contraction  
involved_in neuronal action potential propagation  
involved_in neurotransmitter uptake  
acts_upstream_of_or_within olfactory cortex development  
acts_upstream_of_or_within positive regulation of heart contraction  
involved_in potassium ion import across plasma membrane  
involved_in potassium ion import across plasma membrane PubMed 
involved_in potassium ion import across plasma membrane PubMed 
involved_in potassium ion transmembrane transport PubMed 
involved_in potassium ion transport PubMed 
involved_in proton transmembrane transport  
involved_in regulation of blood pressure  
involved_in regulation of cardiac muscle cell contraction  
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion PubMed 
involved_in regulation of glutamate uptake involved in transmission of nerve impulse PubMed 
acts_upstream_of_or_within regulation of muscle contraction  
acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process  
involved_in regulation of smooth muscle contraction  
involved_in regulation of striated muscle contraction PubMed 
involved_in regulation of synaptic transmission, glutamatergic PubMed 
acts_upstream_of_or_within regulation of the force of heart contraction  
involved_in regulation of vasoconstriction  
involved_in relaxation of cardiac muscle PubMed 
involved_in response to auditory stimulus  
involved_in response to glycoside PubMed 
involved_in response to glycoside  
involved_in response to nicotine  
involved_in response to potassium ion  
involved_in sodium ion export across plasma membrane  
involved_in sodium ion export across plasma membrane PubMed 
involved_in sodium ion transmembrane transport PubMed 
involved_in sodium ion transport PubMed 
involved_in transport across blood-brain barrier PubMed 
involved_in visual learning  
Items 1 - 25 of 58
Items 1 - 20 of 24
Component Evidence Code Pubs
located_in T-tubule PubMed 
located_in caveola  
is_active_in cell projection  
located_in cell projection  
located_in cell surface  
located_in cytoplasm PubMed 
located_in dendritic spine  
located_in endoplasmic reticulum  
located_in endosome  
located_in extracellular vesicle PubMed 
located_in intercalated disc  
located_in membrane PubMed 
located_in membrane  
located_in neuronal cell body  
located_in organelle membrane PubMed 
is_active_in plasma membrane  
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
part_of sodium:potassium-exchanging ATPase complex  
part_of sodium:potassium-exchanging ATPase complex PubMed 
part_of sodium:potassium-exchanging ATPase complex PubMed 
part_of sodium:potassium-exchanging ATPase complex PubMed 
part_of sodium:potassium-exchanging ATPase complex  
Items 1 - 20 of 24

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
XP_054192734.1

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.

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
    D3DVE4, P50993, Q07059, Q5JW74, Q86UZ5, Q9UQ25
    UniProtKB/TrEMBL
    A0A0S2Z3W6, B2RAQ4
    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: GCF_000001405.40-RS_2024_08

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
    B3KX35, 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)

mRNA and Protein(s)

  1. XM_054336759.1XP_054192734.1  sodium/potassium-transporting ATPase subunit alpha-2 isoform X1

    UniProtKB/TrEMBL
    B3KX35, B4DIQ8
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