Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Physical map
LOC342111 15q24.1 hypothetical gene supported by NM_001897 LOC388141 15 LOC388141 LOC390611 15 similar to hypothetical protein FLJ20452 KIAA1055 15q24.1 KIAA1055 protein LOC146013 15q24.1 similar to SH2 domain protein 2A (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein) (SH2 domain containing adapter protein) KIP2 15q24.3 similar to SH2 domain protein 2A (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein) (SH2 domain containing adapter protein) IDH3A 15q25.1-q25.2 isocitrate dehydrogenase 3 (NAD+) alpha BG1 15q24-q25 isocitrate dehydrogenase 3 (NAD+) alpha DNAJA4 15q24.1 DnaJ (Hsp40) homolog, subfamily A, member 4 REC14 15q24.1 recombination protein REC14 CRABP1 15q24 cellular retinoic acid binding protein 1 IREB2 15q24 iron-responsive element binding protein 2 LOC123688 15q24.1 similar to RIKEN cDNA C630028N24 gene PSMA4 15q24.1 proteasome (prosome, macropain) subunit, alpha type, 4 CHRNA5 15q24 cholinergic receptor, nicotinic, alpha polypeptide 5 CHRNA3 15q24 cholinergic receptor, nicotinic, alpha polypeptide 3 CHRNB4 15q24 cholinergic receptor, nicotinic, beta polypeptide 4 LOC390612 15 similar to ribosomal protein L18; 60S ribosomal protein L18 LOC388142 15 LOC388142 LOC390613 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) ADAMTS7 15pter-qter a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 LOC390614 15 similar to cDNA sequence BC053073; G-protein coupled receptor SALPR; somatostatin and angiotensin-like peptide receptor LOC388143 15 similar to 60S ribosomal protein L21 MORF4L1 15q24 mortality factor 4 like 1 CTSH 15q24-q25 cathepsin H RASGRF1 15q24 Ras protein-specific guanine nucleotide-releasing factor 1 LOC390615 15 similar to HNRPC protein LOC390616 15 similar to RIKEN cDNA 6430502M16 gene P24B 15q24-q25 integral type I protein
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