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FLASH GENE
Symbol CACNG3 contributors: - updated : 23-04-2007
HGNC name calcium channel, voltage-dependent, gamma subunit 3
HGNC id 1407
Location 16p13-p12.1      Physical location : 24.266.875 - 24.373.736
Synonym name
  • neuronal voltage-gated calcium channel gamma-3 subunit
  • voltage-dependent calcium channel gamma-3 subunit
    • Synonym symbol(s) CACNG2
    DNA
    TYPE functioning gene
    STRUCTURE 106.00 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map pter - D16S417 - D16S3216 - PRKCB1 - D16S420 - CACNG3 - cen
    Authors Burgess(99)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		glycosylated transmembrane subunit, tightly linked to alpha 1 subunit
    HOMOLOGY
    interspecies ortholog to mouse stargazin protein
    Homologene
    FAMILY neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L type
  • dihydropyridine (DPH) sensitive, gamma regulatory subunit 3, may be stabilizing the calcium channel in an inactivated state
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to childhood absence epilepsy
    Variant & Polymorphism other four variants are predicted to affect exonic splicing, and increasing the risk of childhood absence epilepsy
    Candidate gene for a familial infantile convulsive disorder with paroxysomal choreoathetosis
    Marker
    Therapy target
    ANIMAL & CELL MODELS