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FLASH GENE
Symbol CACNA1H contributors: mct - updated : 08-12-2015
HGNC name calcium channel, voltage-dependent, alpha 1H subunit
HGNC id 1395
Corresponding disease
ECA6 epilepsy, childhood absence, 6
Location 16p13.3      Physical location : 1.203.240 - 1.271.771
Synonym name
  • voltage-gated calcium channel alpha subunit Cav3.2
  • voltage-gated calcium channel alpha subunit CavT.2
  • low-voltage-activated calcium channel alpha1 3.2 subunit
  • calcium channel, voltage-dependent, T type, alpha 1Hb subunit
  • Synonym symbol(s) CACNA1HB, FLJ90484
    DNA
    TYPE functioning gene
    STRUCTURE 68.00 kb     35 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MGC2601 16p13.3 hypothetical protein MGC2601 MGC2494 16p13.3 hypothetical protein MGC2494 FLJ34512 16p13.3 hypothetical protein FLJ34512 HAGHL 16p13.3 hydroxyacyl glutathione hydrolase-like NARFL 16p13.3 nuclear prelamin A recognition factor-like MSLN 16p13.3 mesothelin RLUCL CHTF18 16p13.3 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) GNG13 16p13.3 guanine nucleotide binding protein (G protein), gamma 13 LOC388199 16 LOC388199 FLJ12681 16p13.3 hypothetical protein FLJ12681 SOX8 16p13.33 SRY (sex determining region Y)-box 8 FLJ32252 16p13.3 hypothetical protein FLJ32252 SSTR5 16p13.3 somatostatin receptor 5 LOC390663 16 similar to Williams-Beuren syndrome critical region protein 25 LOC390664 16 similar to C1q Related CACNA1H 16p13.3 calcium channel, voltage-dependent, alpha 1H subunit TPS1 16p13.3 tryptase, alpha TPSB2 16p13.3 tryptase beta 2 TPSG1 16p13.3 tryptase gamma 1 TPSB1 16p13.3 tryptase beta 1 TPSD1 16p13.3 tryptase delta 1 ISP2 16p13.3 implantation serine proteinase 2 LOC123788 16p13.3 similar to mast cell protease-11 UBE2I 16p13.3 ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) BAIAP3 16p13.3 BAI1-associated protein 3 LOC388200 16 LOC388200 CAB56184 FLJ23360 16p13.3 hypothetical protein FLJ23360 UNKL 16p13.3 unkempt-like (Drosophila) LOC283951 16p13.3 hypothetical protein LOC283951 LOC388201 16 LOC388201 LOC388202 16 similar to KIAA0445 protein CLCN7 16p13.3 chloride channel 7 LOC390666 16 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC390667 16 similar to Neuronal pentraxin II precursor (NP-II) (NP2) KIAA0683 16p13.3 similar to Neuronal pentraxin II precursor (NP-II) (NP2)
    RNA
    TRANSCRIPTS type messenger
    text alternative splice isoform of CACNA1G
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 8079 - 2347 - Kang
    - - 8097 259.2 2353 - Kang
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     mouthtongue  highly
    Endocrinepancreas   highly
    Nervousbraindiencephalonamygdala  
    nervousbrainbasal nucleiputamen  
    Reproductivemale systemprostate  highly
    Skin/Tegumentskin appendageshair   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatum   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    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 (24 transmembrane segments)
  • a transmembrane domain highly conserved
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus cacna1h
    ortholog to murine Cacna1h
    Homologene
    FAMILY calcium channel alpha-1 subunit family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium low voltage-activated (LVA) channel (VDCC, T (fast inactivation, small conductance) type essential for excitation-contraction coupling and pacemaker potentials in cardiac muscle cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text substrate for CaMKII
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    CA2+
    protein
  • 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) ECA6
    Susceptibility to childhood absence epilepsy (see ECA4)
    Variant & Polymorphism SNP increasing the risk of childhood absence epilepsy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS