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FLASH GENE
Symbol CACNA1G contributors: mct/npt - updated : 08-12-2016
HGNC name calcium channel, voltage-dependent, T type, alpha 1G subunit
HGNC id 1394
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Hearing/Equilibriumear    
Nervousbrain   predominantly
 brainhindbraincerebellum highly Homo sapiens
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothuterusmyometriumhighly
cells
SystemCellPubmedSpeciesStageRna symbol
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four domains of homology
  • each with six alpha helical membrane spanning segments including several isoforms (CAV31C)
    • HOMOLOGY
    Homologene
    FAMILY
  • calcium channel alpha-1 subunit family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium low activated (LVA) voltage-gated channel, T (fast inactivation, small conductance) type
  • producing large and transient currents
  • KCNC2, CACNA1G regulate thalamic relay neuron sensory transmission and each channel subtype controls a different stimulus-response curve property
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • inhibited by G protein beta2gamma2 subunit
  • CACNA1G, CACNA1H are substrates for EHD3-dependent protein trafficking in heart, implicating EHD3 as a key player in the regulation of atrial myocyte excitability and cardiac conduction
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA42 , CHCA1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    aberrantly methylated and inactivated in colon and gastric carcinomas and leukemia
    Susceptibility to idiopathic generalized epilepsies
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS