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FLASH GENE
Symbol CACNA2D1 contributors: mct - updated : 26-09-2024
HGNC name calcium channel, voltage-dependent, alpha 2/delta subunit 1
HGNC id 1399
Corresponding disease
DEE110 developmental and epileptic encephalopathy 110
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, DEE110, LINC01112, lncRNA-N3, FLJ30478
    DNA
    TYPE functioning gene
    STRUCTURE 497.51 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure
  • promoter encoding CACNA2D1 revealed binding sites for transcription factors activated by the Ras/Raf/MEK/ERK signaling cascade
    • 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 - 7542 123.1 1091 - 2022 35293990
    39 - 7757 - 1103 - 2022 35293990
    11 - 1486 - 309 - 2022 35293990
    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     plasma membrane
        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
  • modulates intraocular pressure
  • CACNA2D1 plays an important role in the progression and the microenvironment of Colon cancer by regulating fibroblasts
    • 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
  • CACNA2D1-NMDAR complexes in the hypothalamus serve as an important molecular substrate for the interaction between the sympathetic nervous system and the renin-angiotensin system
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MHS3 , DEE110
    Susceptibility to glaucoma
    Variant & Polymorphism SNP
  • association of a CACNA2D1 single-nucleotide polymorphism and primary open angle glaucoma
    • Candidate gene
    Marker
  • may act as a biomarker for colon cancer progression
    • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    therapeutic target for Colon cancer
    ANIMAL & CELL MODELS