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FLASH GENE
Symbol CHRNA4 contributors: mct - updated : 18-09-2012
HGNC name cholinergic receptor, nicotinic, alpha polypeptide 4
HGNC id 1958
Corresponding disease
ENFL1 epilepsy, nocturnal frontal lobe, type 1
Location 20q13.33      Physical location : 61.974.664 - 61.992.695
Synonym name
  • neuronal nicotinic acetylcholine receptor alpha-4 subunit
  • Synonym symbol(s) BFNC, EBN, EBN1, NACRA4, NACHR, NACHRA4
    DNA
    TYPE functioning gene
    STRUCTURE 18.09 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D20S24 - CHRNA4 - D20S20 - qter
    Authors Steinlein (94)
    Physical map
    C20orf51 20q13.33 chromosome 20 open reading frame 51 C20orf21 20q13.33 chromosome 20 open reading frame 21 BIRC7 20q13.3 baculoviral IAP repeat-containing 7 (livin) C20orf58 20q13.33 chromosome 20 open reading frame 58 ARFGAP1 20q13.33 ADP-ribosylation factor GTPase activating protein 1 KIAA1510 20q13.33 KIAA1510 protein CHRNA4 20q13.2-q13.3 cholinergic receptor, nicotinic, alpha polypeptide 4 KCNQ2 20q13.3 potassium voltage-gated channel, KQT-like subfamily, member 2 EEF1A2 20q13.3 eukaryotic translation elongation factor 1 alpha 2 LOC149659 20q13.33 hypothetical LOC149659 C20orf149 20q13.33 chromosome 20 open reading frame 149 PTK6 20q13.3 PTK6 protein tyrosine kinase 6 SRMS 20q13.33 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites MGC5356 20q13.33 hypothetical protein MGC5356 PRIC285 20q13.33 peroxisomal proliferator-activated receptor A interacting complex 285 LOC200213 20q13.33 hypothetical protein LOC200213 GMEB2 20q13.33 glucocorticoid modulatory element binding protein 2 LOC388807 20 LOC388807 STMN3 20q13.3 stathmin-like 3 C20orf41 20q13.3 chromosome 20 open reading frame 41
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 5474 - 451 - 2009 19301390
    6 - 5543 - 627 - 2009 19301390
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineadrenal gland    
    Nervousbraindiencephalonhypothalamus  
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    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
  • conjugated GlycoP
    mono polymer heteromer , pentamer
    HOMOLOGY
    Homologene
    FAMILY cholinergic receptor family
    CATEGORY receptor membrane ligand ion channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • cholinergic receptor, nicotinic, ligand gated ion channel, mediating fast signal transmission at synapses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component heteropentamer alpha 4(2), beta 2 (3subunits)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ENFL1
    Susceptibility
  • to nicotine addiction
  • to attentional network deficits
  • to sporadic amyotrophic lateral sclerosis
  • Variant & Polymorphism SNP , other
  • variations in CHRNA4 exon 5 associated with attentional network deficits
  • missense variants are associated with sporadic amyotrophic lateral sclerosis
  • rs1044396 affects attention and negative emotionality in normal adults
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS