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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
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