Property Summary

NCBI Gene PubMed Count 44
PubMed Score 17.86
PubTator Score 33.15

Knowledge Summary

Patent (825)

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.282 1.1e-07
lung carcinoma 1.800 5.4e-29
psoriasis -2.100 1.1e-19

 GWAS Trait (1)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
434974 screening 0 / 0 / 0 Late-stage radioligand binding assay to identify inhibitors of NADPH oxidase 1 (NOX1): PDSP screen

Gene RIF (33)

PMID Text
25847220 a heterozygous single-nucleotide substitution in CHRNA2 gene (c.1126 C>T; p. Arg376Trp) in subjects with benign familial infantile seizures
25770198 CHRNA2 mutations play a causative role in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
25450229 The rare variants in CHRNA2 were significantly associated with smoking status.
24950454 Results show that D478E variation in nAChR alpha2 subunit increases the peak current responses of both alpha2beta2- and alpha2beta4-nAChRs; but the D478N variation in nAChR alpha2 subunit only increases the peak current responses of alpha2beta2-nAChRs
24467848 Results indicate that the CHRNA2 signal peptide mutation T22I modulates the function of both alpha2beta2- and alpha2beta4-nAChR and decreases sensitivities to nicotine and acetylcholine, and quite possibly increasing susceptibility to nicotine dependence
24253422 findings indicate that both CHRNA2 and CHRNA6 play a significant role in the etiology of ND in AA and EA smokers
23943838 Level of cigarettes per day during adolescence and young adulthood is associated with CHRNB3A6, CHRNA5A3B4, and CHRNA2
21287502 mutations of CHRNB2 and CHRNA2 genes may be rare in Chinese autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) population.
20736995 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20584212 Observational study of gene-disease association. (HuGE Navigator)
20231857 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19383498 Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene
19307444 Observational study of gene-disease association. (HuGE Navigator)
19259974 Observational study of gene-disease association. (HuGE Navigator)
19156168 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19058950 Observational study of gene-disease association. (HuGE Navigator)
18991851 Results suggest that neither CHRNA4 nor CHRNB2 plays a major role in Japanese methamphetamine-use disorder.
18588430 The CHRNA2 rs2043063 SNP might be a risk factor for overweight/obesity in Koreans
18588430 Observational study of gene-disease association. (HuGE Navigator)
18384978 Observational study of gene-disease association. (HuGE Navigator)
18226955 data demonstrate the rarity of the identified CHRNA2 mutations in nocturnal frontal lobe epilepsy patients, supporting the recently reported hypothesis of a restricted role for this gene in the disease
18226955 Observational study of genotype prevalence. (HuGE Navigator)
18165968 From a panel of 59 single-nucleotide polymorphisms (SNPs) located on 11 candidate genes, we identify four SNPs (one each on CHRNA5 and CHRNA2 and two on CHAT) that appear to have pharmacogenetic relevance in smokin cessation therapy.
18165968 Observational study of gene-disease association. (HuGE Navigator)
17602836 Observational study of gene-disease association. (HuGE Navigator)
17559419 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17373692 Observational study of gene-disease association. (HuGE Navigator)
16826524 A new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, indicating that the nicotinic alpha 2 subunit alteration is the underlying cause.
15996750 Observational study of gene-disease association. (HuGE Navigator)
12121305 How mutations in the nAChRs can cause autosomal dominant nocturnal frontal lobe epilepsy

AA Sequence

MGPSCPVFLSFTKLSLWWLLLTPAGGEEAKRPPPRAPGDPLSSPSPTALPQGGSHTETEDRLFKHLFRGY      1 - 70
NRWARPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVWLKQEWSDYKLRWNPTDFGNITSLRVPSEMI     71 - 140
WIPDIVLYNNADGEFAVTHMTKAHLFSTGTVHWVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAK    141 - 210
IDLEQMEQTVDLKDYWESGEWAIVNATGTYNSKKYDCCAEIYPDVTYAFVIRRLPLFYTINLIIPCLLIS    211 - 280
CLTVLVFYLPSDCGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVL    281 - 350
NVHHRSPSTHTMPHWVRGALLGCVPRWLLMNRPPPPVELCHPLRLKLSPSYHWLESNVDAEEREVVVEEE    351 - 420
DRWACAGHVAPSVGTLCSHGHLHSGASGPKAEALLQEGELLLSPHMQKALEGVHYIADHLRSEDADSSVK    421 - 490
EDWKYVAMVIDRIFLWLFIIVCFLGTIGLFLPPFLAGMI                                   491 - 529
//

Text Mined References (45)

PMID Year Title
25847220 2015 Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.
25770198 2015 Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.
25450229 2015 The contribution of rare and common variants in 30 genes to risk nicotine dependence.
24950454 2014 Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) ?2 subunit influence nAChR function.
24467848 2014 A signal peptide missense mutation associated with nicotine dependence alters ?2*-nicotinic acetylcholine receptor function.
24253422 2014 Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.
23943838 2014 Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.
21287502 2011 [Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy].
20736995 2010 Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20584212 2010 Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
20231857 2011 Why do young women smoke? VI. A controlled study of nicotine effects on attention: pharmacogenetic interactions.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19383498 2009 Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.
19307444 2009 Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
19156168 2009 Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19059502 2009 Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.
19058950 2009 A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.
18991851 2008 Alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes are not associated with methamphetamine-use disorder in the Japanese population.
18588430 2008 Association of CHRNA2 polymorphisms with overweight/obesity and clinical characteristics in a Korean population.
18384978 2008 Association of candidate genes with antisocial drug dependence in adolescents.
18226955 2009 CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.
18165968 2008 Identification of pharmacogenetic markers in smoking cessation therapy.
17602836 2007 A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely.
17559419 2008 Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function.
17373692 2007 No evidence for association between 19 cholinergic genes and bipolar disorder.
16826524 2006 Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15996750 2005 No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15028279 2004 PCR isolation and cloning of novel splice variant mRNAs from known drug target genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12783266 2003 Nicotinic acetylcholine receptors: from structure to brain function.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12121305 2002 How mutations in the nAChRs can cause ADNFLE epilepsy.
10336173 1999 Diversity of mRNA expression for muscarinic acetylcholine receptor subtypes and neuronal nicotinic acetylcholine receptor subunits in human mononuclear leukocytes and leukemic cell lines.
9193799 1997 Expression of the alpha 7 subunit of the nicotinic acetylcholine receptor in normal and myasthenic human thymuses.
8996215 1997 Pharmacological characterization of recombinant human neuronal nicotinic acetylcholine receptors h alpha 2 beta 2, h alpha 2 beta 4, h alpha 3 beta 2, h alpha 3 beta 4, h alpha 4 beta 2, h alpha 4 beta 4 and h alpha 7 expressed in Xenopus oocytes.
8906617 1996 Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.
7708749 1995 Effects of serotonergic agents on neuronal nicotinic acetylcholine receptors.
7570187 1995 Identification of the human neuronal nicotinic cholinergic alpha 2 receptor locus, (CHRNA2), within an 8p21 mapped locus, by sequence homology with rat DNA.
1505988 1992 Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans.