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FLASH GENE
Symbol CHRNB2 contributors: npt/ - updated : 05-03-2007
HGNC name cholinergic receptor, nicotinic, beta 2 (neuronal)
HGNC id 1962
Corresponding disease
ENFL3 epilepsy, nocturnal frontal lobe, type 3
Location 1q21.3      Physical location : 154.540.256 - 154.552.351
Synonym name cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)
Synonym symbol(s) ENFL3, nAChRB2
DNA
TYPE functioning gene
STRUCTURE 12.10 kb     6 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - FLG - IVL ,LOR - CHRNB2 - qter
Authors Lueders (99)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 5731 - 502 - -
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
 nerve    
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 segments (4TM) with the M2 domain comprising the cation-selective pore
  • 25 AA signal peptide
  • mono polymer heteromer , pentamer
    HOMOLOGY
    interspecies ortholog to murine Chrnb2
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand gated ion channel family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • having nicotinic acetylcholine-activated cation-selective channel activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heteropentamer alpha 4(2) beta 2 (3 subunits)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ENFL3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    ADNFLE mouse model harboring the V287L missense mutation of the CHRNB2 subunit (Manfredi 2009)