rs6314

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SNP: rs6314
Name(s)His452Tyr, H452Y
GeneHTR2A
Chromosome13
RegionExon 3
External databases
EnsemblHuman SNPView
dbSNP6314
HapMap6314
SNPedia6314
SzGeneMeta-analysis
Overview

In genetics, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism (SNP), in the HTR2A gene that codes for the 5-HT2A receptor. The SNP is located in exon 3 of the gene and the change between C and T results in a change between histidine (His) and tyrosine (Tyr) at the 452nd amino acid, i.e., it is a missense substitution.[1]

As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders[2] and other brain-related variables. A 2003 study looked at memory performance and found that His/His subjects performed better.[3] Another study reported that the SNP had an effect on the memory performance in young adults.[4] This has been replicated by another group.[5]

The His452Tyr variant may influence cell signaling.[6]

rs6311, rs6313 and rs7997012 are other investigated SNPs in the HTR2A gene.

References[]

  1. ^ "SNP linked to Gene HTR2A". NCBI.
  2. ^ , Daphne Shimron-Abarbanell, Marcella Rietschel, Margot Albus, Wolfgang Maier, Judith Körner, Brigitta Bondy, Kevin Chen, Jean C. Shih, Michael Knapp, Peter Propping and (March 1996). "Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia". Human Genetics. 97 (5): 614–619. doi:10.1007/BF02281871. PMID 8655141. S2CID 10300089.CS1 maint: multiple names: authors list (link)
  3. ^ Dominique J-F de Quervain; et al. (November 2003). "A functional genetic variation of the 5-HT2a receptor affects human memory" (PDF). Nature Genetics. 6 (11): 1141–1142. doi:10.1038/nn1146. PMID 14566344. S2CID 36336899.[permanent dead link]
  4. ^ Papassotiropoulos, Andreas; Henke, Katharina; Aerni, Amanda; Coluccia, Daniel; Garcia, Esmeralda; Wollmer, Marc A.; Huynh, Kim-Dung; Monsch, Andreas U.; Stahelin, Hannes B.; Hock, Christoph; Nitsch, Roger M.; de Quervain, Dominique J.-F. (May 2005). "Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory". NeuroReport. 16 (8): 839–842. doi:10.1097/00001756-200505310-00012. PMID 15891581. S2CID 44409028.
  5. ^ Michael Wagner, , , and Wolfgang Maier (July 2008). "The His452Tyr variant of the gene encoding the 5-HT2A receptor is specifically associated with consolidation of episodic memory in humans". The International Journal of Neuropsychopharmacology. 11 (8): 1163–7. doi:10.1017/S146114570800905X. PMID 18611292.CS1 maint: multiple names: authors list (link)
  6. ^ and (November 2004). "His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation". Molecular Pharmacology. 66 (5): 1293–1300. doi:10.1124/mol.66.5.1293. PMID 15496511.


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