Format

Send to:

Choose Destination

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

Gene ID: 477, updated on 1-Aug-2020

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
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

Genomic context

See ATP1A2 in Genome Data Viewer
Location:
1q23.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160115759..160143591)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160085520..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
Familial hemiplegic migraine type 2
MedGen: C1865322 OMIM: 602481 GeneReviews: Familial Hemiplegic Migraine
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
NHGRI GWA 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
contributes_to ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cation-transporting ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
cation-transporting ATPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to drug binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to potassium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to sodium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
sodium:potassium-exchanging ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:potassium-exchanging ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
sodium:potassium-exchanging ATPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
sodium:potassium-exchanging ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to sodium:potassium-exchanging ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
sodium:potassium-exchanging ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
steroid hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
amygdala development ISS
Inferred from Sequence or Structural Similarity
more info
 
behavioral fear response ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle contraction TAS
Traceable Author Statement
more info
PubMed 
cation transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
cation transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
PubMed 
cellular potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular potassium ion homeostasis IC
Inferred by Curator
more info
PubMed 
cellular potassium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to steroid hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular sodium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of transmembrane electrochemical gradient IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
locomotion ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory exploration behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane depolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
membrane repolarization TAS
Traceable Author Statement
more info
PubMed 
negative regulation of calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of calcium:sodium antiporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of striated muscle contraction IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter uptake ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion import across plasma membrane IC
Inferred by Curator
more info
PubMed 
potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
potassium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cardiac muscle cell contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
Traceable Author Statement
more info
PubMed 
regulation of glutamate uptake involved in transmission of nerve impulse NAS
Non-traceable Author Statement
more info
PubMed 
regulation of muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of respiratory gaseous exchange by neurological system process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of striated muscle contraction NAS
Non-traceable Author Statement
more info
PubMed 
regulation of synaptic transmission, glutamatergic NAS
Non-traceable Author Statement
more info
PubMed 
regulation of the force of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
relaxation of cardiac muscle TAS
Traceable Author Statement
more info
PubMed 
response to auditory stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
response to glycoside IC
Inferred by Curator
more info
PubMed 
response to glycoside ISS
Inferred from Sequence or Structural Similarity
more info
 
response to nicotine IEA
Inferred from Electronic Annotation
more info
 
sodium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
sodium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
T-tubule IGI
Inferred from Genetic Interaction
more info
PubMed 
caveola IEA
Inferred from Electronic Annotation
more info
 
cell projection ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicle HDA PubMed 
intercalated disc IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
organelle membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
sodium:potassium-exchanging ATPase complex IC
Inferred by Curator
more info
PubMed 
sodium:potassium-exchanging ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
sodium:potassium-exchanging ATPase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
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)

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 Annotation Release 109.20200522

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)
Support Center