ZFIN ID: ZDB-GENE-090312-128
Gene Name: calcium channel, voltage-dependent, T type, alpha 1H subunit b
Gene Symbol: cacna1hb    Nomenclature History

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Previous Names: si:ch211-201p7.4, si:ch211-22n13.1

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 1 Mapping Details/Browsers
Description: Predicted to have low voltage-gated calcium channel activity. Predicted to be involved in several processes, including calcium ion import; neuronal action potential; and positive regulation of calcium ion-dependent exocytosis. Predicted to localize to the voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in childhood absence epilepsy and primary hyperaldosteronism. Is expressed in atrium and cardiac ventricle. Orthologous to human CACNA1H (calcium voltage-gated channel subunit alpha1 H).
Genome Resources: Alliance (1),  Ensembl(GRCz11):ENSDARG00000099708 (1)
GENE EXPRESSION
All Expression Data: Fig. 2 from Haverinen et al., 2018
Wild-type Stages, Structures: Adult (90d-730d, breeding adult) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1668 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa1681 Point Mutation Unknown Missense, Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa15566 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16883 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18648 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18685 Point Mutation Unknown Splice Site ENU
    sa31190 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32587 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32588 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39543 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH cacna1hb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hyperaldosteronism, familial, type IV 617027
    {Epilepsy, childhood absence, susceptibility to, 6} 611942
    {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
    DISEASE ASSOCIATED WITH cacna1hb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process calcium ion transmembrane transport (more)
    Cellular Component integral component of membrane (more)
    Molecular Function calcium channel activity (more)
    GO Terms (all 22)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Family IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
    Family IPR005445 Voltage-dependent calcium channel, T-type, alpha-1 subunit
    Domain IPR005821 Ion transport domain
    Homologous_superfamily IPR027359 Voltage-dependent channel domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA cacna1hb-201 (1)    Ensembl 5045
    Browsers: EnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cacna1hb No data available
    MARKER RELATIONSHIPS
    cacna1hb Contained in: [BAC] CH73-313L7 (1), CH211-22N13 (1), CH211-201P7 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    Genomic GenBank:AL928835 (1) 182427 bp
    Select Tool
    Polypeptide UniProtKB:A0A0R4IRK8 (1) 1681 aa
    Sequence Information (all 5)
    ORTHOLOGY for cacna1hb ( Chr: 1 )
    CITATIONS (16)