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FLASH GENE
Symbol CACNA2D1 contributors: mct - updated : 18-02-2009
HGNC name calcium channel, voltage-dependent, alpha 2/delta subunit 1
HGNC id 1399
Corresponding disease
MHS3 malignant hyperthermia susceptibility, 3
Location 7q21.11      Physical location : 81.579.417 - 82.073.031
Synonym name
  • dihydropyridine-sensitive L-type, calcium channel
  • calcium channel, L type, alpha 2 polypeptide
    • Synonym symbol(s) CACNL2A, CACNA2, CCHL2A, MHS3, WUGSC:H_DJ0560O14.1, H_DJ0560O14.1
    DNA
    TYPE functioning gene
    STRUCTURE 493.61 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D7S2443 - D7S660 - CACNA2D1 - D7S2540 - D7S2485 - qter
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    39 - 3822 123.1 1091 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselaorta   
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cache domain
  • a VWFA domain
    • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked
    HOMOLOGY
    interspecies homolog to rattus Cacna2d1 (96.3 pc)
    Homologene
    FAMILY
  • calcium channel subunit alpha-2/delta family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • single-pass type I membrane protein
  • sarcoplasmic reticulum
  • T-tubule
    • basic FUNCTION
  • regulating calcium current density and activation/inactivation kinetics of the calcium channel
  • playing an important role in excitation-contraction coupling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text Ca2+ transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of the voltage channel complex
  • dimer formed of alpha-2-1 and delta-1 chains, disulfide-linked
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • may interact with other cellular components in developing myotubes, such as the ATP5B in its atypical localization in the plasma membrane
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MHS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS