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FLASH GENE
Symbol CHRNB4 contributors: mct/npt - updated : 28-09-2013
HGNC name cholinergic receptor, nicotinic, beta 4
HGNC id 1964
Location 15q25.1      Physical location : 78.916.635 - 78.933.587
Synonym name cholinergic receptor, nicotinic, beta polypeptide 4
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text CHRNA5-CHRNA3-CHRNB4 gene cluster
STRUCTURE 16.95 kb     6 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
6 - 2448 56.25 498 - Anand (1992)
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
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
  • four transmembrane (4TM) segments with the M2 domain comprising the cation-selective pore
  • HOMOLOGY
    interspecies homolog to rattus Chrnb4
    homolog to murine Chrnb4
    Homologene
    FAMILY
  • ligand-gated ionic channel family
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • cholinergic receptor, nicotinic
  • ligand gated ion channel
  • involved in susceptibility to alcohol dependence (Joslyn 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypomethylation in the promoter region of CHRNB4, is strongly associated with genetic lung cancer susceptibility variants and a functional impact on tumorigenic potential
    Susceptibility
  • to lung cancer
  • to alcohol and nicotine use disorders
  • sensitivity to cholinergic drugs
  • to risk for nicotine dependence
  • Variant & Polymorphism other
  • variants may be more or less sensitive to cholinergic drugs or to dysfunctions associated with nicotinic cholinergic systems (Liang 2005)
  • missense variants at conserved residues in CHRNB4 are associated with lower risk for nicotine dependence
  • Candidate gene for low penetrance, high-frequency lung cancer susceptiblity genes
    Marker
    Therapy target
    ANIMAL & CELL MODELS