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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)
    Physical map
    HS3ST2 16p12 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 KIAA1203 16p12.3 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 SCNN1G 16p12.2-p12.1 sodium channel, nonvoltage-gated 1, gamma SCNN1B 16p12.2-p12.1 sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) COG7 16p11.2 component of oligomeric golgi complex 7 GGA2 16p12 golgi associated, gamma adaptin ear containing, ARF binding protein 2 UBPH 16p12 similar to ubiquitin binding protein NDUFAB1 16p12.3-p12.1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa FLJ21816 16p12.3 hypothetical protein FLJ21816 MGC3248 16p12.3 dynactin 4 PLK LOC388226 16 similar to protein kinase/ribonuclease IRE1 beta ERN2 16p12.2 ER to nucleus signalling 2 LOC63928 16p12.3 hepatocellular carcinoma antigen gene 520 PRKCB1 16p12.1 protein kinase C, beta 1 CACNG3 16p13-p12.1 calcium channel, voltage-dependent, gamma subunit 3 RNU7P3 16p12.3 RNA, U7 small nuclear pseudogene 3 RBBP6 16p12-p11.2 retinoblastoma binding protein 6 TNRC6 16p12.1-p11.2 trinucleotide repeat containing 6 KST1 16p12.2-p11.2 trinucleotide repeat containing 6 RICH1 16p12-p11.2 Homo sapiens homolog of rat nadrin (RICH1), mRNA. LOC390685 16 hypothetical gene supported by BC041358 LOC342355 16p12.2 similar to hypothetical protein LOC388227 16 LOC388227 LCMT1 16p12.3-p12.1 leucine carboxyl methyltransferase 1 AQP8 16p12 aquaporin 8 LOC342357 16p12.2 similar to hypothetical protein FLJ35867 HCP39 16p12.2 cytochrome c, somatic pseudogene HS3ST4 16p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 4
    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