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FLASH GENE
Symbol CACNB2 contributors: mct - updated : 23-12-2012
HGNC name calcium channel, voltage-dependent, beta 2 subunit
HGNC id 1402
Corresponding disease
BRGS4 Brugada syndrome 4
Location 10p12.32      Physical location : 18.429.605 - 18.830.688
Synonym name
  • calcium channel voltage-dependent subunit beta 2
  • lambert-Eaton myasthenic syndrome antigen B
    • Synonym symbol(s) RP11-383B4.2, CACNLB2, CAVB2, MYSB, CAB2
    DNA
    TYPE locus Control Region
    STRUCTURE 401.08 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 4301 - 632 - 1999 10441130
    14 - 4078 - 660 - 1999 10441130
    13 - 4098 - 606 - 1999 10441130
    14 - 4006 - 636 - 1999 10441130
    14 - 3964 - 622 - 1999 10441130
    13 - 4468 - 605 - 1999 10441130
    13 - 4322 - 612 - 1999 10441130
    14 - 4229 - 608 - 1999 10441130
    14 - 4178 - 594 - 1999 10441130
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinner    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • SH3, HOOK, and guanylate kinase (GK) domains important for AHNAK interaction while the C- and N-terminal regions were dispensable (pMID: 22497893)
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L (long lasting) type
  • has an essential role in regulating the abundance and properties of CACNA1D channels in inner hair cell and, thereby, is critical for inner hair cell development and synaptic encoding of sound
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • CAMK2A forms stable complexes with voltage-gated calcium channel CACNB1 or CACNB2
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RRAD (dominant negative suppression of RRAD leads to QT prolongation and causes ventricular arrhythmias via modulation of CACNB2 in the heart)
  • phosphorylation of Ser-296 CACNB2 affects AHNAK interaction in a complex manner and is a leading candidate for optional PKA-mediated modulation of L-type Ca2+ channel activity in the heart
    • cell & other
    REGULATION
    Other phosphorylated by PRKG2
    ASSOCIATED DISORDERS
    corresponding disease(s) BRGS4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Otoacoustic emissions were reduced or absent in Ca(V)beta(2)(-/-) mice, which showed strongly elevated auditory thresholds in single neuron recordings and auditory brainstem response measurements