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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

CHRNA2  -  cholinergic receptor, nicotinic, alpha 2...

Homo sapiens

Synonyms: Neuronal acetylcholine receptor subunit alpha-2
 
 
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Disease relevance of CHRNA2

  • CHRNA2 is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies [1].
 

Psychiatry related information on CHRNA2

 

High impact information on CHRNA2

  • Whole-cell recordings of transiently transfected HEK293 cells expressing either the mutant or the wild-type receptor showed that the new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, therefore indicating that the nicotinic alpha 2 subunit alteration is the underlying cause [1].
  • 3. By sequencing the positional candidate neuronal cholinergic receptor alpha 2 subunit gene (CHRNA2), we detected a heterozygous missense mutation, I279N, in the first transmembrane domain that is crucial for receptor function [1].
  • The neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) maps to the bipolar susceptibility locus on chromosome 8p21-22 [2].
  • Genotypes of one amino acid substitution polymorphism (Ala125Thr) and five non-coding variations across the CHRNA2 gene were obtained from 345 unrelated bipolar I patients and 273 control samples [2].
  • Individual gene analysis suggests that CHRNA2 and CHRNB2 may play a particular role in this involvement [3].
 

Biological context of CHRNA2

  • Identification of the human neuronal nicotinic cholinergic alpha 2 receptor locus, (CHRNA2), within an 8p21 mapped locus, by sequence homology with rat DNA [4].

References

  1. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Aridon, P., Marini, C., Di Resta, C., Brilli, E., De Fusco, M., Politi, F., Parrini, E., Manfredi, I., Pisano, T., Pruna, D., Curia, G., Cianchetti, C., Pasqualetti, M., Becchetti, A., Guerrini, R., Casari, G. Am. J. Hum. Genet. (2006) [Pubmed]
  2. No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder. Lohoff, F.W., Ferraro, T.N., McNabb, L., Schwebel, C., Dahl, J.P., Doyle, G.A., Buono, R.J., Berrettini, W.H. Psychiatry research. (2005) [Pubmed]
  3. A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia families. Faraone, S.V., Su, J., Taylor, L., Wilcox, M., Van Eerdewegh, P., Tsuang, M.T. Hum. Hered. (2004) [Pubmed]
  4. Identification of the human neuronal nicotinic cholinergic alpha 2 receptor locus, (CHRNA2), within an 8p21 mapped locus, by sequence homology with rat DNA. Wood, S., Schertzer, M., Yaremko, M.L. Somat. Cell Mol. Genet. (1995) [Pubmed]
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