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FLASH GENE
Symbol ATP1A2 contributors: npt/mct - updated : 21-02-2018
HGNC name ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
HGNC id 800
Corresponding disease
AHPC alternating hemiplegia of childhood
MHP2 migraine familial hemiplegic, 2
Location 1q23.2      Physical location : 160.085.519 - 160.113.372
Synonym name
  • sodium/potassium-transporting ATPase alpha-2 chain
  • Na+/K+ ATPase 2
  • sodium pump 2
  • sodium/potassium-transporting ATPase alpha-2 chain
  • Synonym symbol(s) KIAA0778, FHM2, MGC59864
    EC.number 3.6.3.9
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text arranged in tandem with ATP1A4
    STRUCTURE 27.85 kb     23 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   enhancer   transcription factor
    text structure
  • numerous AP-1, AP-2, NF-1 binding sites
  • a potential Sp1 recognition site
  • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 5496 - 1020 - Goldstein (2009)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/Equilibriumearinnercochlea highly
    Nervousbraindiencephalonamygdala highly
     spinal cord    
    Reproductivemale systemprostate   
    Visualeyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Muscular    
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • E1-E2 ATPase
  • haloacid dehalogenase-like hydrolase domain
  • cation transporting ATPase, C-terminus domain
  • HOMOLOGY
    interspecies homolog to murine Atp1a2
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • subfamily of Na+/K+ -ATPases
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • osmotic balance and cell volume stability
  • catalyzing the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text 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
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with ATP1B2 and maybe others
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • binding to ATP1B2
  • GPNMB promotes glioma growth via ATP1A1, ATP1A2, ATP1A3, ATP1A4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MHP2 , AHPC
    Susceptibility to bipolar disorders
    Variant & Polymorphism SNP increasing the risk of bipolar disorders (Goldstein 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS