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FLASH GENE
Symbol CACNA1E contributors: mct/npt/pgu - updated : 27-11-2018
HGNC name calcium channel, voltage-dependent, R type, alpha 1E subunit
HGNC id 1392
Corresponding disease
EIEE68 epileptic encephalopathy, early infantile, 68
Location 1q25.3      Physical location : 181.452.715 - 181.770.713
Synonym name
  • calcium channel, voltage-dependent, alpha 1E subunit
  • brain calcium channel II
  • voltage-gated calcium channel alpha subunit Cav2.3
  • calcium channel, R type, alpha-1 polypeptide, isoform 6
    Synonym symbol(s) CACNL1A6, CCHRA1, Cav2.3, BII, CACH6, gm139
    DNA
    TYPE functioning gene
    STRUCTURE 490.37 kb     47 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D1S431 - D1S242 - D1S215 - CACNA1E - D1S240 - D1S412 - D1S504 - qter
    RNA
    TRANSCRIPTS type messenger
    text one form CACNEec specific for islets of Langerhans and kidney and atrial myocites
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 9734 - 2270 - 2015 25741585
    48 - 16420 - 2313 - 2015 25741585
    46 - 14915 - 2251 - 2015 25741585
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartatrium   
    Digestivestomach    
    Lymphoid/Immunetonsils   highly
    Nervousbrain   highly
    Reproductivefemale systemovary  highly
    Respiratorylung   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • integral protein with four domains of homology
  • each with six alpha helical membrane spanning segments, with alternatively spliced variants
  • HOMOLOGY
    Homologene
    FAMILY
  • calcium channel alpha-1 subunit family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), R type, involved in the modulation of calcium mediated hormone secretion, forming pores
  • share dual roles during neurotransmitter release
  • having a role for second-phase insulin secretion
  • CACNA1E E/R-type Ca2+ channels are important in modulating thalamocortical hyperoscillation exerting anti-epileptogenic effects in non-convulsive absence seizures
  • CACNA1E channels are critical for oscillatory burst discharges in reticular thalamus (RT) neurons and for the expression of absence epilepsy
  • does not only contribute to the cardiac autonomous nervous system but also to intrinsic rhythm propagation
  • conducts high-voltage-activated, rapidly inactivating R-type calcium currents, which are used to initiate rapid synaptic transmission
  • had a disproportionately increased contribution to synaptic transmission at frequencies >1 Hz
  • raft-dependent modulation of CACNA1E could be important in the physiological and pathophysiological processes in which these channels participate, including neuronal excitability, synaptic plasticity, epilepsy, and chronic pain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with beta and gamma subunits
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with the EF-hand motif containing protein EFHC1 is involved in the aetiology and pathogenesis of juvenile myoclonic epilepsy
  • interacting with SEMA3A (induces CACNA1E channel-dependent conversion of axons to dendrites)
  • ATP6V0D2 interacts physically and also functionally with CACNA1E
  • regulation mechanism of CACNA1E surface expression, which implicates APLP1 as a regulator of calcium homeostasis
  • sarcolemmal and nuclear membrane CACNA1E in vascular smooth muscle cells are involved in EDN1 modulation of vascular tone in physiology and pathology
  • cell & other
    REGULATION
    inhibited by antagonized by RGS3
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE68
    Susceptibility
  • to type 2 diabetes
  • to hemiplegic and brain stem aura migraine
  • Variant & Polymorphism other
  • rs679931 TT genotype was associated with an increased risk of type 2 diabetes
  • polymorphism in exon 20 of the CACNA1E gene (Asp859Glu - rs35737760) is more prevalent in hemiplegic and brain stem aura migraine
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CaV2.3 deficient mice exhibited reduced wake duration and increased slow-wave sleep (SWS)