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FLASH GENE
Symbol CACNB4 contributors: - updated : 24-11-2006
HGNC name calcium channel, voltage-dependent, beta 4 subunit
HGNC id 1404
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one SH3 domain
mono polymer heteromer , tetramer
HOMOLOGY
interspecies homolog to murine epilepsy gene lethargic
homolog to murine Cacnb4
Homologene
FAMILY beta subunit family
CATEGORY transport channel
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • calcium voltage-gated channel (VDCC)
  • modulator of calcium currents
  • participating in the membrane trafficking of the alpha 1 subunits
  • contributing to the function of the
    • calcium channel by increasing peak calcium current, shifting the voltage dependencies of
    activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit
    membrane targeting
  • playing a critical role in T lymphocyte function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    text calcium ion transport
    PATHWAY
    metabolism
    signaling
    a component L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding to CNGA2
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EA5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in generalized epilepsy and juvenilemyoclonic epilepsy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS