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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)
Physical map
CREB3L4 1q21.2 cAMP responsive element binding protein 3-like 4 JTB 1q21 jumping translocation breakpoint RAB13 12q13 RAB13, member RAS oncogene family RPS27 1q21 ribosomal protein S27 (metallopanstimulin 1) LOC91181 1q22 nuclear pore membrane glycoprotein 210-like TPM3 1q22-q23 tropomyosin 3 LOC388701 1 LOC388701 NICE-3 1q21.2 NICE-3 protein NICE-4 1q22 NICE-4 protein HAX1 1q21 NICE-4 protein AQP10 1q21.2 aquaporin 10 ATP8B2 1q21.2 ATPase, Class I, type 8B, member 2 MRPS33P1 1q21.3 mitochondrial ribosomal protein S33 pseudogene 1 LOC388702 1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) IL6R 1q21 interleukin 6 receptor LOC388703 1 similar to hypothetical protein 9430022A14 DKFZp434M202 1q22 hypothetical protein DKFZp434M202 UBE2Q 1q22 ubiquitin-conjugating enzyme E2Q (putative) CHRNB2 1q21.3 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ADAR 1q21.1-q21.2 adenosine deaminase, RNA-specific KCNN3 1q21.3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 PMVK 1p13-q23 phosphomevalonate kinase PBXIP1 1q22 pre-B-cell leukemia transcription factor interacting protein 1 PYGO2 1q22 pygopus 2 SHC1 1q21 SHC (Src homology 2 domain containing) transforming protein 1 CKS1B 1q21.2 CDC28 protein kinase regulatory subunit 1B PP591 1q22 FAD-synthetase LENEP 1q22 lens epithelial protein ZFP67 1q21.2 zinc finger protein 67 homolog (mouse) FLJ32934 1q22 hypothetical protein FLJ32934 FLJ32785 1q22 hypothetical protein FLJ32785 ADAM15 1q21.3 a disintegrin and metalloproteinase domain 15 (metargidin)
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)