Version: 8.0.0
Date: Tue Jan 28 2025
CACNA1B
Homo sapiensHGNC:1389
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CACNA1B

Species
Homo sapiens
Symbol
CACNA1B
Name
calcium voltage-gated channel subunit alpha1 B
Synonyms
  • BIII
  • brain calcium channel III
Biotype
protein coding gene
Automated Description
Enables high voltage-gated calcium channel activity. Involved in modulation of chemical synaptic transmission and response to amyloid-beta. Predicted to be located in dendrite. Predicted to be part of voltage-gated calcium channel complex. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and presynaptic active zone. Implicated in Lambert-Eaton myasthenic syndrome. Biomarker of brain edema and multiple sclerosis.
RGD Description
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45628
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          CACNA1B molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            CACNA1B role
            CACNA1B genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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