Property Summary

NCBI Gene PubMed Count 44
Grant Count 2
Funding $76,385.5
PubMed Score 17.86
PubTator Score 33.15

Knowledge Summary

Patent (825)

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.282 0.000
lung carcinoma 1.800 0.000
psoriasis -2.100 0.000

 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)
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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.
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