Rs6314

{{Infobox single nucleotide polymorphism | rsid = 6314 | name_1 = His452Tyr | name_2 = H452Y | gene = HTR2A | region = Exon 3 | chromosome = 13 | szgene_geneid = 293 | szgene_polyid = 1867 }} 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.<ref>{{Cite web | url = https://www.ncbi.nlm.nih.gov/variation/view/?q=3356[geneid] | title = SNP linked to Gene HTR2A | publisher = NCBI }}</ref>

As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders<ref>{{Cite journal | author = Jeanette Erdmann, Daphne Shimron-Abarbanell, Marcella Rietschel, Margot Albus, Wolfgang Maier, Judith Körner, Brigitta Bondy, Kevin Chen, Jean C. Shih, Michael Knapp, Peter Propping and Markus M. Nöthen | title = 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 | journal = Human Genetics | volume = 97 | issue = 5 |date=March 1996 | doi = 10.1007/BF02281871 | pages = 614–619 | pmid = 8655141 | s2cid = 10300089 }}</ref> and other brain-related variables. A 2003 study looked at memory performance and found that His/His subjects performed better.<ref>{{Cite journal |author = Dominique J-F de Quervain |title = A functional genetic variation of the 5-HT2a receptor affects human memory |journal = Nature Genetics |volume = 6 |issue = 11 |date = November 2003 |url = http://www.memory.ulink.icu.uzh.ch/Nat%20Neurosci%202003.pdf |pages = 1141–1142 |pmid = 14566344 |doi = 10.1038/nn1146 |s2cid = 36336899 |display-authors = etal }}{{dead link|date=April 2018 |bot=InternetArchiveBot |fix-attempted=yes }}</ref> Another study reported that the SNP had an effect on the memory performance in young adults.<ref>{{Cite journal |author1=Papassotiropoulos, Andreas |author2=Henke, Katharina |author3=Aerni, Amanda |author4=Coluccia, Daniel |author5=Garcia, Esmeralda |author6=Wollmer, Marc A. |author7=Huynh, Kim-Dung |author8=Monsch, Andreas U. |author9=Stahelin, Hannes B. |author10=Hock, Christoph |author11=Nitsch, Roger M. |author12=de Quervain, Dominique J.-F. | title = Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory | journal = NeuroReport |date=May 2005 | volume = 16 | issue = 8 | pages = 839–842 | pmid = 15891581 | doi = 10.1097/00001756-200505310-00012 |s2cid=44409028 }}</ref> This has been replicated by another group.<ref>{{Cite journal | author = Michael Wagner, Anna Schuhmacher, Sybille Schwab, Astrid Zobel and Wolfgang Maier | title = The His452Tyr variant of the gene encoding the 5-HT2A receptor is specifically associated with consolidation of episodic memory in humans | journal = The International Journal of Neuropsychopharmacology |date=July 2008 | doi = 10.1017/S146114570800905X | pmid = 18611292 | volume = 11 | issue = 8 | pages = 1163–7 | doi-access = free }}</ref>

The His452Tyr variant may influence cell signaling.<ref>{{Cite journal | author = Lisa A. Hazelwood and Elaine Sanders-Bush | title = His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation | journal = Molecular Pharmacology |date=November 2004 | volume = 66 | issue = 5 | pages = 1293–1300 | pmid = 15496511 | url = http://molpharm.aspetjournals.org/cgi/content/full/66/5/1293 | doi = 10.1124/mol.66.5.1293 | s2cid = 39226604 | url-access = subscription }}</ref>

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

== References == {{Reflist}}

Category:SNPs on chromosome 13