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FLASH GENE
Symbol ATP2B2 contributors: npt/mct/pgu - updated : 15-11-2016
HGNC name ATPase, Ca++ transporting, plasma membrane 2
HGNC id 815
Location 3p25.3      Physical location : 10.365.707 - 10.547.268
Synonym name
  • plasma membrane calcium ATPase 2
  • plasma membrane Ca2+ pump 2
  • plasma membrane Ca(2+)-ATPase
  • Synonym symbol(s) PMCA2, PMCA2a, PMCA2i
    EC.number 3.6.3.8
    DNA
    TYPE functioning gene
    STRUCTURE 181.56 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    OGG1 3p26.2 8-oxoguanine DNA glycosylase CAMK1 3p25.2 calcium/calmodulin-dependent protein kinase I TADA3L 3p25.3 transcriptional adaptor 3 (NGG1 homolog, yeast)-like ARPC4 3p25.3-p24.1 actin related protein 2/3 complex, subunit 4, 20kDa LOC389093 3 similar to RIKEN cDNA 4833441J24 DKFZP434B103 MGC29784 3p25.3 hypothetical protein MGC29784 CIDE-3 3p25.3 cell death activator CIDE-3 GL009 3p25.2 hypothetical protein GL009 IL17RE 3p25.3 interleukin 17 receptor E IL17RC 3p25.3 interleukin 17 receptor C CRELD1 3p25.3 cysteine-rich with EGF-like domains 1 FLJ33674 3p25.3 hypothetical protein FLJ33674 LOC55831 3p25.3 30 kDa protein HCP10 3p25.3 cytochrome c, somatic pseudogene LOC389094 3 LOC389094 CICE 3p25.3 cell death-inducing CIDE-like effector pseudogene FANCD2 3p25.3 Fanconi anemia, complementation group D2 HCP11 3p25.3 cytochrome c, somatic pseudogene MGC40179 3p25.3 hypothetical protein MGC40179 MDS027 3p25.3 uncharacterized hematopoietic stem/progenitor cells protein MDS027 VHL 3p26-p25 von Hippel-Lindau syndrome IRAK2 3p25.3 interleukin-1 receptor-associated kinase 2 KIAA0218 3p25.3 interleukin-1 receptor-associated kinase 2 NAG73 3p26-p25 NPC-related protein NAG73 GHRL 3p26-p25 NPC-related protein NAG73 SEC13L1 3p25-p24 SEC13-like 1 (S. cerevisiae) ATP2B2 3p25-p24 ATPase, Ca++ transporting, plasma membrane 2 LOC389095 3 LOC389095 SLC6A11 3p25.2 solute carrier family 6 (neurotransmitter transporter, GABA), member 11
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 8962 - 1243 . clear apical and lateral distribution . a significant fraction partitioned into low-density membranes associated with lipid rafts 2007 19379709
  • also called W/B
  • apical localization is lipid raft-dependent and sensitive to cholesterol depletion
  • in the presence of SLC9A3R2, co-localized with the actin-binding protein ezrin even after disruption of the actin cytoskeleton by cytochalasin D or latrunculin B
  • 20 - 8827 132.5 1198 . mainly localized to the basolateral membrane 2007 19379709
    also called Z/B
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
     earinner    Homo sapiens
    Nervousbrainhindbraincerebellum highly Homo sapiens
     brainlimbic systemhippocampus   Homo sapiens
    Reproductivefemale systembreastmammary gland moderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period perinatal
    Text in lactating mammary gland
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 10 transmembrane domains
  • two large intracellular loops
  • and N- and C-terminal cytoplasmic tails
  • HOMOLOGY
    Homologene
    FAMILY
  • cation transport ATPase (p-type) family
  • type IIb subfamily
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • ATPase, Ca++ transporting, B2 plasma membrane, mediating the extrusion of CA2+ from the cell
  • in the cerebellar cortex, ATP2B2 and ATP2B3 were at highest levels within synaptic profiles, but ATP2B2 was postsynaptic and ATP2B3 was presynaptic
  • "fast" calcium transporter, which normally influences glutamate release from excitatory terminals where it helps control calcium levels
  • transporter protein critical for the clearance of calcium from excitable cells
  • having a major role for apical calcium transport
  • transports calcium across the apical surface of the cells into milk
  • can protect breast cancer cells from apoptosis and its expression in breast tumors correlates with clinical outcome
  • extrude Ca2+ from cells, maintaining the resting level of intracellular Ca2+ and controlling the Ca2+ transients induced by agonists
  • importance of ATP2B2 in Ca(2+) signaling, glutamate receptor expression and survival of Purkinje cells
  • ATP2B2 activity is an important regulator of the dendritic calcium equilibrium controlling Purkinje cell dendritic growth
  • is necessary for auditory transduction and serves as the primary Ca(2+) extrusion mechanism in auditory stereocilia bundles
  • critical auditory protein that may be involved in normal maturation of auditory sensitivity after the onset of hearing
  • ATP2B2, ATP2B3 are mainly responsible for transport of protons to intracellular milieu
  • ATP2B2, ATP2B3 respond to a rapid removal of Ca(2+) and are expressed predominantly in excitable cells
  • in the lactating mammary gland, the plasma membrane calcium ATPase2 (ATP2B2) transports milk calcium
  • calcium pump that plays important roles in neuronal function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions between ATP2B2 and ERBB2 in specific actin-rich membrane domains
  • cell & other
    REGULATION
    Other down-regulating ATP2B2, prolonged distension of the alveoli of mammary gland, overloads the calcium-buffering capacity of the cells causing a sustained increase in intracellular calcium and apoptosis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    with mutation of CDH23, leading to sensorineural deafness
    constitutional     --low  
    down-regulated early in mammary involution associated with changes in mammary epithelial cell shape
    tumoral     --over  
    in breast cancers is associated with poor outcome
    constitutional     --low  
    such as occurs in aging brain likely leads to subtle disruptions in normal Ca(2+) signaling and enhanced susceptibility to stresses that can alter the regulation of Ca(2+) homeostasis
    Susceptibility
    Variant & Polymorphism variant may modify the severity of sensorineural hearing loss caused by a variety of factors
    Candidate gene for sensorineural hearing loss in 3p25 deletion
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    interactions between ATP2B2 and ERBB2 may represent therapeutic targets for breast cancer
    ANIMAL & CELL MODELS
  • mouse mutation, Tommy, causes a non-conservative Glu629Lys change in the second intracellular loop of the pump which harbors the active site, leading to profound hearing impairment from P18, with significant differences in hearing thresholds between wild type and heterozygotes
  • Atp2b2 murine mutant overexpressed in model cells displayed an evident defect both in the basal activity of the pump and in the long range ejection of Ca(2+), the human mutant instead failed to impair the Ca(2+) ejection by the pump