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FLASH GENE
Symbol CACNA1B contributors: mct - updated : 03-01-2017
HGNC name calcium channel, voltage-dependent, L type, alpha 1B subunit
HGNC id 1389
Corresponding disease
DYT23 dystonia 23
NEDNEH Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Location 9q34      Physical location : 140.772.240 - 141.019.075
Synonym name
  • omega conotoxin sensitive,calcium channel, N type, alpha 1B subunit
  • Cav2.2 voltage-gated Ca2+ channel
  • brain calcium channel III
    • Synonym symbol(s) CACNL1A5, BIII, CACNN, Cav2.2
    DNA
    TYPE functioning gene
    STRUCTURE 246.83 kb     44 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D9S174 - D9S195 - D9S158 - CACNA1B - qter
    Authors Yamazaki (98)
    RNA
    TRANSCRIPTS type messenger
    text
  • e37a/e37b splice site reveal a multifunctional domain in the C-terminus of Ca(V)2.2 that regulates the overall activity of N-type calcium channels in nociceptors (PMID: 16857708)
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 9805 - 2339 - 2015 26511252
  • long-splice that is targeted to the presynaptic terminal
    • 47 - 9618 - 2237 - 2015 26511252
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane (4TM) domains of homology, each made of six alpha helical membrane spanning segments
  • a C terminal CAG repeat, with multifunctional domain that regulates the overall activity of N-type calcium channels in nociceptors
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text
  • localize to presynaptic nerve terminals of nociceptors where they control neurotransmitter release
    • basic FUNCTION
  • voltage dependent Ca(2+) channel, omega conotoxin sensitive,calcium channel, controling the release of neurotransmitters from neurons
  • CACNA1B cluster is an integral element of a multimolecular vesicle-fusion module that forms the core of a multifunctional transmitter release sites
  • localized at nerve terminals where they play a critical role in neurotransmission
  • play a key role in the gating of transmitter release at presynaptic terminals
  • CACNA1A, CACNA1B, preferentially accumulate at neuromuscular junctions (NMJs) active zones and play essential role in synaptic transmission in conjunction with the active zone protein BSN
  • novel role for SUMO modification in DPYSL2/CACNA1B signaling pathway
  • had a disproportionately reduced contribution to synaptic transmission at frequencies >20 Hz
  • CACNA1B channels regulate transmitter release at inhibitory and excitatory synapses
  • play key roles in neurons and neuroendocrine cells including the control of cellular excitability, neurotransmitter / hormone secretion, and gene expression
  • pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel CACNA1B/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period
  • key role of CACNA1B in normal human neurodevelopment
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component complexing with beta and gamma subunits
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • its presynaptic surface localization is mediated through its interaction with light chain 2 (LC2) of microtubule-associated protein MAP1A
  • NOVA2 controls alternative splicing in CACNA1A and CACNA1B
  • functional interactions between STX1A and CACNA1B calcium channels are critical for fast neurotransmitter release in the mammalian brain
  • GHSR-mediated inhibition of CACNA1A, CACNA1B attenuates GABA release in hypothalamic neurons, a mechanism that could contribute to neuronal activation through the disinhibition of postsynaptic neurons
  • DMXL2 has the propensity to regulate calcium entry mediated by CACNA1B channels
    • cell & other
    REGULATION
    Other regulation of biophysical properties of CACNA1B by CACNG2, not exerted by direct modulation of the channel but via a Gbetagamma-dependent mechanism
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT23 , NEDNEH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS