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FLASH GENE
Symbol ATP2B3 contributors: mct - updated : 15-11-2016
HGNC name ATPase, Ca++ transporting, plasma membrane 3
HGNC id 816
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 10 transmembrane domains
  • two large intracellular loops
  • and N- and C-terminal cytoplasmic tails
  • a C-terminal domain referred to as a regulatory domain , and C-terminal tail contains the regulatory calmodulin (CaM)-binding domain, which interacts with two sites in the two cytosolic loops of the pump autoinhibiting the pump at rest
    • HOMOLOGY
    interspecies homolog to murine Atp2b3
    Homologene
    FAMILY cation transport ATPases family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • ATPase, Ca++ transporting, B3 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
  • extrude Ca2+ from cells, maintaining the resting level of intracellular Ca2+ and controlling the Ca2+ transients induced by agonists
  • importance of oligomerization for the regulation of ATP2B3 activity and intracellular calcium concentration
  • extrude Ca2+ from the cell, playing a key role in neuronal Ca2+ homeostasis
  • ATP2B2, ATP2B3 are mainly responsible for transport of protons to intracellular milieu
  • plays an important role in the regulation of neuronal Ca(2+)
  • ATP2B2, ATP2B3 respond to a rapid removal of Ca(2+) and are expressed predominantly in excitable cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • ATP
  • magnesium
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAX1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in Aldosterone-producing adenomas (APAs)
    constitutional germinal mutation      
    associated with mutations in LAMA1 in a patient with global developmental delay, generalized hypotonia and cerebellar ataxia
    constitutional somatic mutation      
    in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension
    Susceptibility to adrenal aldosterone-producing adenomas (APAs)
    Variant & Polymorphism other
  • APA-associated ATP2B3(Leu425_Val426del) mutation appeared to have a reduced capacity to export Ca(2+) suggesting a loss of the physiological pump function
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS