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Aliases for ATP1A2 Gene

Aliases for ATP1A2 Gene

  • ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide 2 3
  • Sodium Pump Subunit Alpha-2 2 3 4
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-2 2 3
  • Na(+)/K(+) ATPase Alpha-2 Subunit 3 4
  • EC 3.6.3.9 4 63
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-2 2
  • ATPase, Na+/K+ Transporting, Alpha 2 (+) Polypeptide 2
  • Sodium/Potassium-Transporting ATPase Alpha-2 Chain 3
  • Na+/K+ ATPase, Alpha-A(+) Catalytic Polypeptide 3
  • Na+/K+ ATPase, Alpha-B Polypeptide 3
  • Migraine, Hemiplegic 2 2
  • KIAA0778 4
  • EC 3.6.3 63
  • FHM2 3
  • MHP2 3

External Ids for ATP1A2 Gene

Previous HGNC Symbols for ATP1A2 Gene

  • MHP2

Previous GeneCards Identifiers for ATP1A2 Gene

  • GC01P157877
  • GC01P155817
  • GC01P156863
  • GC01P157302
  • GC01P156883
  • GC01P158353
  • GC01P131442

Summaries for ATP1A2 Gene

Entrez Gene Summary for ATP1A2 Gene

  • 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]

GeneCards Summary for ATP1A2 Gene

ATP1A2 (ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide) is a Protein Coding gene. Diseases associated with ATP1A2 include alternating hemiplegia of childhood and familial or sporadic hemiplegic migraine. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP4A.

UniProtKB/Swiss-Prot for ATP1A2 Gene

  • This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients

Tocris Summary for ATP1A2 Gene

  • The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.

Gene Wiki entry for ATP1A2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A2 Gene

Genomics for ATP1A2 Gene

Regulatory Elements for ATP1A2 Gene

Genomic Location for ATP1A2 Gene

Chromosome:
1
Start:
160,115,730 bp from pter
End:
160,143,591 bp from pter
Size:
27,862 bases
Orientation:
Plus strand

Genomic View for ATP1A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A2 Gene

Proteins for ATP1A2 Gene

  • Protein details for ATP1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50993-AT1A2_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-2
    Protein Accession:
    P50993
    Secondary Accessions:
    • D3DVE4
    • Q07059
    • Q5JW74
    • Q86UZ5
    • Q9UQ25

    Protein attributes for ATP1A2 Gene

    Size:
    1020 amino acids
    Molecular mass:
    112265 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma
    SequenceCaution:
    • Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ATP1A2 Gene

Proteomics data for ATP1A2 Gene at MOPED

Post-translational modifications for ATP1A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP1A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for ATP1A2

Domains & Families for ATP1A2 Gene

Gene Families for ATP1A2 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P50993

UniProtKB/Swiss-Prot:

AT1A2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
genes like me logo Genes that share domains with ATP1A2: view

Function for ATP1A2 Gene

Molecular function for ATP1A2 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,alpha 2 polypeptide
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In)
UniProtKB/Swiss-Prot Function:
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients

Enzyme Numbers (IUBMB) for ATP1A2 Gene

Gene Ontology (GO) - Molecular Function for ATP1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005391 contributes_to sodium:potassium-exchanging ATPase activity IMP 23954377
GO:0005515 protein binding IPI 23954377
GO:0005524 contributes_to ATP binding IMP 23954377
GO:0008144 contributes_to drug binding IPI 23954377
genes like me logo Genes that share ontologies with ATP1A2: view
genes like me logo Genes that share phenotypes with ATP1A2: view

Animal Models for ATP1A2 Gene

MGI Knock Outs for ATP1A2:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP1A2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP1A2 Gene

Localization for ATP1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A2 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP1A2 Gene COMPARTMENTS Subcellular localization image for ATP1A2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
endosome 2

Gene Ontology (GO) - Cellular Components for ATP1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12539047
GO:0005768 endosome IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex IDA 10636900
genes like me logo Genes that share ontologies with ATP1A2: view

Pathways & Interactions for ATP1A2 Gene

genes like me logo Genes that share pathways with ATP1A2: view

Gene Ontology (GO) - Biological Process for ATP1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake IEA --
GO:0002026 regulation of the force of heart contraction IEA --
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006813 potassium ion transport NAS 10642400
GO:0006814 sodium ion transport NAS 10642400
genes like me logo Genes that share ontologies with ATP1A2: view

No data available for SIGNOR curated interactions for ATP1A2 Gene

Drugs & Compounds for ATP1A2 Gene

(6) Drugs for ATP1A2 Gene - From: HMDB, NovoSeek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ouabain Approved Pharma Na+/K+ ATPase inhibitor 0
Adenosine triphosphate Approved Nutra 0
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 118
Potassium Experimental Pharma 0
Magnesium Nutra 0

(8) Additional Compounds for ATP1A2 Gene - From: HMDB, Tocris, and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Rostafuroxin
156722-18-8
genes like me logo Genes that share compounds with ATP1A2: view

Transcripts for ATP1A2 Gene

Unigene Clusters for ATP1A2 Gene

ATPase, Na+/K+ transporting, alpha 2 polypeptide:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP1A2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a ·
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7:
SP8:
SP9: -
SP10:
SP11:

ExUns: 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c
SP1: - - -
SP2: -
SP3: - - -
SP4:
SP5:
SP6: - - - - - - - -
SP7: - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ATP1A2 Gene

GeneLoc Exon Structure for
ATP1A2
ECgene alternative splicing isoforms for
ATP1A2

Expression for ATP1A2 Gene

mRNA expression in normal human tissues for ATP1A2 Gene

mRNA differential expression in normal tissues according to GTEx for ATP1A2 Gene

This gene is overexpressed in Muscle - Skeletal (x8.0), Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.3), and Brain - Putamen (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for ATP1A2 Gene

This gene is overexpressed in Frontal cortex (29.7), Brain (18.8), and Spinal cord (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP1A2 Gene



SOURCE GeneReport for Unigene cluster for ATP1A2 Gene Hs.34114

genes like me logo Genes that share expression patterns with ATP1A2: view

Protein tissue co-expression partners for ATP1A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ATP1A2 Gene

Orthologs for ATP1A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP1A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP1A2 35
  • 92.22 (n)
  • 99.02 (a)
ATP1A2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP1A2 35
  • 91.05 (n)
  • 99.41 (a)
ATP1A2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1a2 35
  • 90.36 (n)
  • 99.12 (a)
Atp1a2 16
Atp1a2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP1A2 35
  • 99.4 (n)
  • 99.7 (a)
rat
(Rattus norvegicus)
Mammalia Atp1a2 35
  • 90.75 (n)
  • 99.12 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 99 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP1A2 35
  • 83.48 (n)
  • 93.99 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a2 35
  • 78.86 (n)
  • 92.94 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68460 35
zebrafish
(Danio rerio)
Actinopterygii atp1a2a 35
  • 76.3 (n)
  • 86.04 (a)
atp1a2a 36
  • 86 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 37
  • 76 (a)
CG17923 37
  • 63 (a)
CG3701 37
  • 30 (a)
Atpalpha 36
  • 74 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C02E7.1 37
  • 35 (a)
eat-6 37
  • 72 (a)
Y105E8A.12 37
  • 32 (a)
eat-6 36
  • 72 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 36
  • 27 (a)
ManyToMany
ENA2 36
  • 27 (a)
ManyToMany
ENA5 36
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
Species with no ortholog for ATP1A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP1A2 Gene

ENSEMBL:
Gene Tree for ATP1A2 (if available)
TreeFam:
Gene Tree for ATP1A2 (if available)

Paralogs for ATP1A2 Gene

Paralogs for ATP1A2 Gene

(9) SIMAP similar genes for ATP1A2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATP1A2: view

Variants for ATP1A2 Gene

Sequence variations from dbSNP and Humsavar for ATP1A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9905 -- 160,143,450(+) TGCAT(A/G)GGCTA utr-variant-3-prime
rs1016732 -- 160,117,178(+) GAAGA(A/G)GTCAT intron-variant
rs1023420 -- 160,124,553(+) GCCTA(C/T)GCCCC intron-variant
rs1023421 -- 160,124,854(+) GTGCA(A/G)GGCAG intron-variant
rs1046995 -- 160,142,951(+) TTCTT(C/T)CCCTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATP1A2 Gene

Variant ID Type Subtype PubMed ID
nsv520189 CNV Loss 19592680
nsv872490 CNV Loss 21882294

Variation tolerance for ATP1A2 Gene

Residual Variation Intolerance Score: 2.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP1A2 Gene

HapMap Linkage Disequilibrium report
ATP1A2
Human Gene Mutation Database (HGMD)
ATP1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A2 Gene

Disorders for ATP1A2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ATP1A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

UniProtKB/Swiss-Prot

AT1A2_HUMAN
  • Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO:0000269 PubMed:15174025}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:12539047, ECO:0000269 PubMed:12953268, ECO:0000269 PubMed:21352219, ECO:0000269 PubMed:23838748, ECO:0000269 PubMed:23918834}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP1A2

Genetic Association Database (GAD)
ATP1A2
Human Genome Epidemiology (HuGE) Navigator
ATP1A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1A2
genes like me logo Genes that share disorders with ATP1A2: view

No data available for Genatlas for ATP1A2 Gene

Publications for ATP1A2 Gene

  1. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. (PMID: 9403481) Ducros A. … Tournier-Lasserve E. (Ann. Neurol. 1997) 2 23 67
  2. Low-dose cardiotonic steroids increase sodium-potassium ATPase activity that protects hippocampal slice cultures from experimental ischemia. (PMID: 19822191) Oselkin M. … Bergold P.J. (Neurosci. Lett. 2010) 23 67
  3. Management of sporadic and familial hemiplegic migraine. (PMID: 20187861) Russell M.B. (Expert Rev Neurother 2010) 23 67
  4. FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. (PMID: 19007941) Wiwanitkit V. (J. Neurol. Sci. 2009) 23 67
  5. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. (PMID: 19332696) Vahedi K. … Bousser M.-G. (Neurology 2009) 23 67

Products for ATP1A2 Gene

  • Cloud-Clone Corp. Antibodies for ATP1A2
  • Cloud-Clone Corp. Proteins for ATP1A2
  • Cloud-Clone Corp Assay Kits for ATP1A2

Sources for ATP1A2 Gene

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