View source for 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|5-HT<sub>2A</sub> 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/SNP/snp_ref.cgi?locusId=3356
| title = SNP linked to Gene HTR2A
| publisher = NCBI
}}</ref>
As 5-HT<sub>2A</sub> is a [[neuroreceptor]] the SNP has been investigated in connection with [[neuropsychiatric disorder]]s<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-HT<sub>2A</sub>) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia
| journal = [[Human Genetics (journal)|Human Genetics]]
| volume = 97
| issue = 5
|date=March 1996
| doi = 10.1007/BF02281871
| pages = 614&ndash;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&ndash;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&ndash;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&ndash;1300
| pmid = 15496511
| url = http://molpharm.aspetjournals.org/cgi/content/full/66/5/1293
| doi = 10.1124/mol.66.5.1293
| s2cid = 39226604
}}</ref>
[[rs6311]], [[rs6313]] and [[rs7997012]] are other investigated SNPs in the ''HTR2A'' gene.
== References ==
{{Reflist}}
[[Category:SNPs on chromosome 13]]
{{genetics-stub}}