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FLASH GENE
Symbol CHRNA2 contributors: SGE/np - updated : 05-03-2007
HGNC name cholinergic receptor, nicotinic, alpha 2 (neuronal)
HGNC id 1956
Corresponding disease
ENFL4 epilepsy, nocturnal frontal lobe, type 4
Location 8p21.2      Physical location : 27.317.278 - 27.336.813
Synonym name cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)
DNA
TYPE functioning gene
STRUCTURE 19.54 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 4083 - 529 - -
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly
Reproductivemale systemprostate   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal extracellular domain
  • two agonist binding sites
  • four transmembrane segments (4TM)
  • the M2 domain comprising the cation-selective pore
  • HOMOLOGY
    interspecies ortholog to murine Chrna2
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand-gated ionic channel family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • leading to opening of an ion-conducting channel across the plasma membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component two different types of subunits :
  • alpha and non-alpha (beta)
  • alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ENFL4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation     gain of function
    point mutation alpha2-I279N can be coexpressed with CHRNB2 and causes a marked gain of function effect (Hoda 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS