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FLASH GENE
Symbol SLC8A2 contributors: mct/npt - updated : 10-09-2009
HGNC name solute carrier family 8 (sodium-calcium exchanger), member 2
HGNC id 11069
Location 19p13.32      Physical location : 47.931.279 - 47.975.307
Synonym name
  • Na+/Ca2+-exchanging protein Nac2
  • solute carrier family 8 member 2
  • Synonym symbol(s) NCX2, KIAA1087
    DNA
    TYPE functioning gene
    STRUCTURE 43.20 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 5111 - 921 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eleven transmembrane segments (11TM) protein with a large cytoplasmic loop
  • HOMOLOGY
    Homologene
    FAMILY
  • sodium/potassium/calcium exchanger family
  • SLC8 subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • co-localized with APP in synaptic terminals
  • basic FUNCTION
  • rapid transport of Ca2+ during excitation contraction, preventing overloading of intracelular stores
  • play a crucial role in ionic regulation because they are the major bidirectional system promoting the efflux and influx of Na(+) and Ca(2+) ions (Formisano 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP dependent
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    co-localized with APP in synaptic terminals and with SLC8A2, SLC8A3, are up-regulated in nerve terminals containing APP, in cerebral cortex affected by Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS