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FLASH GENE
Symbol CACNA2D4 contributors: mct - updated : 02-05-2013
HGNC name calcium channel, voltage-dependent, alpha 2/delta subunit 4
HGNC id 20202
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland    
Lymphoid/Immunespleen   highly
nervousbraindiencephalon   
Visualeyeretinafovea highly
 eyeretinamacula highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text fetal liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • von Willebrand factor (vWF)type A domain
  • a Cache domain
    • mono polymer heteromer , dimer
    isoforms Precursor alpha-2 and delta subunits are proteolytically processed from a precursor form
    HOMOLOGY
    interspecies homolog to murine T30256
    intraspecies homolog to CACNA1D1
    homolog to CACNA1D2
    homolog to CACNA1D3
    Homologene
    FAMILY
    CATEGORY unknown/unspecified , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text integral membrane protein
    basic FUNCTION
  • regulatory subunit that alters the properties of CACNA1A
  • calcium channel protein wich plays an important role in excitation-contraction coupling
  • increasde the Ca2+ influx
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • the l-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma
  • alpha-2 and delta forms heterodimers that are disulfide-linked
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RCD4
    Susceptibility to late onset bipolar disorder
    Variant & Polymorphism insertion/deletion In creasing the risk of late onset bipolar disorder
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS