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FLASH GENE
Symbol CHRNA2 contributors: SGE/np - updated : 05-03-2007
HGNC name cholinergic receptor, nicotinic, alpha 2 (neuronal)
HGNC id 1956
Corresponding disease
ENFL4 epilepsy, nocturnal frontal lobe, type 4
Location 8p21.2      Physical location : 27.317.278 - 27.336.813
Synonym name cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)
DNA
TYPE functioning gene
STRUCTURE 19.54 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC286061 8p21.2 hypothetical protein LOC286061 DOCK5 8p21.2 dedicator of cytokinesis 5 GNRH1 8p21-p12 gonadotropin-releasing hormone 1 (leutinizing-releasing hormone) KCTD9 8p21.1 potassium channel tetramerisation domain containing 9 CDCA2 8p12-21 cell division cycle associated 2 EBF2 8p21.1 early B-cell factor 2 PPP2R2A 8p21.1 protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform LOC157489 8p21.1 similar to hypothetical protein FLJ10498 BNIP3L 8p21 BCL2/adenovirus E1B 19kDa interacting protein 3-like PNMA2 8p21.1 paraneoplastic antigen MA2 LOC338097 8p21 proteasome activator subunit 2 pseudogene DPYSL2 8p21 dihydropyrimidinase-like 2 ADRA1A 8p21-p11.2 adrenergic, alpha-1A-, receptor LOC286129 8p21.1 similar to chromosome 15 open reading frame 2 STMN4 8P21.1 stathmin-like 4 TRIM35 8p21.1 tripartite motif-containing 35 PTK2B 8p21.1 PTK2B protein tyrosine kinase 2 beta CHRNA2 8p21 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) EPHX2 8p21-p12 epoxide hydrolase 2, cytoplasmic GULOP 8p21.1 gulonolactone (L-) oxidase pseudogene CLU 8p21.3-p12 clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) SCARA3 8p21 scavenger receptor class A, member 3 FLJ10853 8p21.1 hypothetical protein FLJ10853 LOC157570 8p21.1 hypothetical protein LOC157570 TOPK 8p21.2 hypothetical protein LOC157570 MGC45780 8p21.1 hypothetical protein MGC45780 LOC389643 8 hypothetical gene supported by AK129923 ELP3 8p21.1 elongation protein 3 homolog (S. cerevisiae) LOC389644 8 similar to 60S ribosomal protein L5 LOC346848 8p21.1 similar to 60S RIBOSOMAL PROTEIN L5 PNOC 8p21 prepronociceptin DKFZp434K1210 8p21.1 hypothetical protein DKFZp434K1210 PBF 8p21.1 papillomavirus regulatory factor PRF-1 FBXO16 8p21.1 F-box only protein 16 FZD3 8p21 frizzled homolog 3 (Drosophila) EXTL3 8p21 exostoses (multiple)-like 3 FLJ10871 8p21.1 hypothetical protein FLJ10871 FLJ21616 8p21.1 hypothetical protein FLJ21616 KIF13B 8p21-p12 kinesin family member 13B DUSP4 8p12-p11 dual specificity phosphatase 4 LOC392208 8 similar to Ac2-210 LOC389645 8 LOC389645
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 4083 - 529 - -
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly
Reproductivemale systemprostate   
Urinarykidney    
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
  • two agonist binding sites
  • four transmembrane segments (4TM)
  • the M2 domain comprising the cation-selective pore
  • HOMOLOGY
    interspecies ortholog to murine Chrna2
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand-gated ionic channel family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • leading to opening of an ion-conducting channel across the plasma membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component two different types of subunits :
  • alpha and non-alpha (beta)
  • alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ENFL4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation     gain of function
    point mutation alpha2-I279N can be coexpressed with CHRNB2 and causes a marked gain of function effect (Hoda 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS