Rs6314

Last updated
SNP: rs6314
Name(s)His452Tyr, H452Y
Gene HTR2A
Chromosome 13
RegionExon 3
External databases
Ensembl Human SNPView
dbSNP 6314
HapMap 6314
SNPedia 6314
SzGene Meta-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.

Related Research Articles

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The 5-HT2A receptor is a subtype of the 5-HT2 receptor that belongs to the serotonin receptor family and is a G protein-coupled receptor (GPCR). The 5-HT2A receptor is a cell surface receptor, but has several intracellular locations. 5-HT is short for 5-hydroxy-tryptamine or serotonin. This is the main excitatory receptor subtype among the GPCRs for serotonin, although 5-HT2A may also have an inhibitory effect on certain areas such as the visual cortex and the orbitofrontal cortex. This receptor was first noted for its importance as a target of serotonergic psychedelic drugs such as LSD and psilocybin mushrooms. Later it came back to prominence because it was also found to be mediating, at least partly, the action of many antipsychotic drugs, especially the atypical ones.

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HTR3B

5-hydroxytryptamine (serotonin) receptor 3B, also known as HTR3B, is a human gene. The protein encoded by this gene is a subunit of the 5-HT3 receptor.

HTR3C

5-hydroxytryptamine receptor 3C is a protein that in humans is encoded by the HTR3C gene. The protein encoded by this gene is a subunit of the 5-HT3 receptor.

Interferon Lambda 3 Protein-coding gene in the species Homo sapiens

Interferon lambda 3 encodes the IFNL3 protein. IFNL3 was formerly named IL28B, but the Human Genome Organization Gene Nomenclature Committee renamed this gene in 2013 while assigning a name to the then newly discovered IFNL4 gene. Together with IFNL1 and IFNL2, these genes lie in a cluster on chromosomal region 19q13. IFNL3 shares ~96% amino-acid identity with IFNL2, ~80% identity with IFNL1 and ~30% identity with IFNL4.

References

  1. "SNP linked to Gene HTR2A". NCBI.
  2. 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 (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.{{cite journal}}: 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, Anna Schuhmacher, Sybille Schwab, Astrid Zobel 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  6. Lisa A. Hazelwood and Elaine Sanders-Bush (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. S2CID   39226604.