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Gene Report
Basic Info
| Approved Symbol | HTR2A |
|---|---|
| Previous Symbol | HTR2 |
| Symbol Alias | 5-HT2A |
| Approved Name | 5-hydroxytryptamine (serotonin) receptor 2A |
| Location | 13q14-q21 |
| Position | chr13:47407513-47471169, - |
| External Links |
HGNC: 5293 Entrez Gene: 3356 Ensembl: ENSG00000102468 UCSC: uc001vbq.2 |
| No. of Studies | 12 (significant: 6; non-significant: 6; trend: 0) |
| Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP |
Gene related studies (count: 12)
| Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
|---|---|---|
| Cho, S. C., 2012 | The results of this study suggest that there is a significant genetic association between the T102C polymorphism in the serotonin 2A receptor gene and ADHD in Korean children. | Significant |
| Brookes K, 2006 | UNPHASED TDT P-value=0.112, global P-value=0.906, WHAP TDT P_sum P-value=0.641, no SNP with nominal P-value<0.05 located in this gene | Non-significant |
| Gizer IR, 2009 | The present study does not support a relation between ADHD and this gene. | Non-significant |
| Li J, 2006(e) | no biased transmission of any alleles of the 102T>C and -1438A>G was observed | Non-significant |
| Oades RD, 2008 | 2 SNPs showed significant association | Significant |
| Heiser P, 2007 | 3 SNPs showed no association to ADHD in their sample | Non-significant |
| Ribases M, 2009(b) | Haplotype analysis: P-value=0.0036, OR=1.63 for adults combined ADHD; P-value=0.0084, OR=1.49 for childhood combined ADHD. showed evidence of association only with the combined ADHD subtype both in adults and children. | Significant |
| Guimaraes AP, 2007 | a trend association between a polymorphism in this gene and ADHD was detected. | Significant |
| Hawi Z, 2002 | Analysis of HTR2A failed to reveal evidence of association or linkage between the His452Tyr polymorphism and ADHD in the total sample. However, a significantly increased transmission of the allele 452His was observed in the Irish sample alone. | Significant |
| Quist JF, 2000 | haplotype TDT: global P=0.38, smallest P=0.09 for haplotype 102T/452Tyr. No evidence was found for preferential transmission of any HTR2A haplotype to the affected child. Evidence for linkage disequilibrium between the 452Tyr allele of the HTR2A His452Tyr polymorphism and ADHD was found. | Significant |
| Bobb AJ, 2005 | no polymorphism was associated with ADHD | Non-significant |
| Zoroglu SS, 2003 | two investigated polymorphisms were not siginificantly associated with ADHD | Non-significant |
Gene related SNPs (count: 65)
Literature-origin SNPs (count: 14)
| rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| rs9316233 | Chr13:47433355(Fwd) | downstream_gene_variant; intron_variant | 1(1/0/0) |
| rs6561333 | Chr13:47420312(Fwd) | feature_truncation; intron_variant | 2(2/0/0) |
| rs6561332 | Chr13:47419820(Fwd) | intron_variant | 1(1/0/0) |
| rs9534495 | Chr13:47429228(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant | 1(1/0/0) |
| rs1923886 | Chr13:47423291(Fwd) | intron_variant; upstream_gene_variant | 1(1/0/0) |
| rs6314 | Chr13:47409034(Fwd) | missense_variant | 4(0/4/0) |
| rs6313 | Chr13:47469940(Fwd) | intron_variant; synonymous_variant | 4(0/4/0) |
| rs6311 | Chr13:47471478(Fwd) | upstream_gene_variant | 4(0/4/0) |
| rs7322347 | Chr13:47410103(Fwd) | intron_variant | 1(1/0/0) |
| rs7984966 | Chr13:47429446(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant | 1(1/0/0) |
| rs7997012 | Chr13:47411985(Fwd) | intron_variant | 1(1/0/0) |
| rs2770296 | Chr13:47440560(Fwd) | intron_variant | 1(1/0/0) |
| rs2224721 | Chr13:47432154(Fwd) | downstream_gene_variant; intron_variant | 1(1/0/0) |
| rs1328684 | Chr13:47466230(Fwd) | intron_variant | 1(1/0/0) |
LD-proxies (count: 51)
| rs_ID | Location | Functional Annotation |
|---|---|---|
| rs7333412 | Chr13:47403360(Fwd) | downstream_gene_variant |
| rs977003 | Chr13:47415001(Fwd) | intron_variant |
| rs1923882 | Chr13:47411661(Fwd) | intron_variant |
| rs3125 | Chr13:47408851(Fwd) | 3_prime_UTR_variant |
| rs3803189 | Chr13:47408570(Fwd) | 3_prime_UTR_variant |
| rs7324017 | Chr13:47406845(Fwd) | downstream_gene_variant |
| rs1923884 | Chr13:47421836(Fwd) | intron_variant; upstream_gene_variant |
| rs9567736 | Chr13:47420983(Fwd) | intron_variant |
| rs9562685 | Chr13:47421223(Fwd) | intron_variant |
| rs9567735 | Chr13:47419204(Fwd) | intron_variant |
| rs3742278 | Chr13:47419577(Fwd) | intron_variant |
| rs7330461 | Chr13:47423565(Fwd) | intron_variant; upstream_gene_variant |
| rs7330636 | Chr13:47423592(Fwd) | intron_variant; upstream_gene_variant |
| rs1923885 | Chr13:47423086(Fwd) | intron_variant; upstream_gene_variant |
| rs9526245 | Chr13:47445967(Fwd) | intron_variant |
| rs9316235 | Chr13:47445703(Fwd) | intron_variant |
| rs1928040 | Chr13:47447236(Fwd) | intron_variant |
| rs2770298 | Chr13:47446847(Fwd) | intron_variant |
| rs2770297 | Chr13:47446665(Fwd) | intron_variant |
| rs9567737 | Chr13:47421266(Fwd) | intron_variant |
| rs2296972 | Chr13:47428471(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
| rs9567746 | Chr13:47456548(Fwd) | intron_variant |
| rs9562688 | Chr13:47452549(Fwd) | intron_variant |
| rs9562687 | Chr13:47452133(Fwd) | intron_variant |
| rs731779 | Chr13:47452038(Fwd) | intron_variant |
| rs4942578 | Chr13:47432610(Fwd) | downstream_gene_variant; intron_variant |
| rs582854 | Chr13:47445877(Fwd) | intron_variant |
| rs9567743 | Chr13:47440800(Fwd) | intron_variant |
| rs732821 | Chr13:47472879(Fwd) | upstream_gene_variant |
| rs2025296 | Chr13:47463819(Fwd) | intron_variant |
| rs731245 | Chr13:47472266(Fwd) | upstream_gene_variant |
| rs731778 | Chr13:47451779(Fwd) | intron_variant |
| rs9534505 | Chr13:47460744(Fwd) | intron_variant |
| rs2760347 | Chr13:47439092(Fwd) | intron_variant |
| rs1328674 | Chr13:47441707(Fwd) | intron_variant |
| rs2760345 | Chr13:47438574(Fwd) | intron_variant |
| rs7326071 | Chr13:47438668(Fwd) | intron_variant |
| rs1928042 | Chr13:47437216(Fwd) | intron_variant |
| rs2760344 | Chr13:47438549(Fwd) | intron_variant |
| rs6561336 | Chr13:47448060(Fwd) | intron_variant |
| rs11841433 | Chr13:47434733(Fwd) | downstream_gene_variant; intron_variant |
| rs4941570 | Chr13:47439371(Fwd) | intron_variant |
| rs4941573 | Chr13:47464857(Fwd) | intron_variant |
| rs9526246 | Chr13:47449861(Fwd) | intron_variant |
| rs4941575 | Chr13:47475294(Fwd) | upstream_gene_variant |
| rs9534513 | Chr13:47474138(Fwd) | upstream_gene_variant |
| rs9534511 | Chr13:47468580(Fwd) | intron_variant |
| rs7323441 | Chr13:47406628(Fwd) | downstream_gene_variant |
| rs7325168 | Chr13:47406731(Fwd) | downstream_gene_variant |
| rs7324218 | Chr13:47406956(Fwd) | downstream_gene_variant |
| rs9595552 | Chr13:47407430(Fwd) | downstream_gene_variant |
Gene related CNVs (count: 0)
Gene related other variant (count: 3)
| Variant Name | Variant Type | Location in Gene | No. of Studies (significant/non-significant/trend) |
|---|---|---|---|
| HTR2A_His452Tyr | point mutation | 3 (3/0/0) | |
| HTR2A_T102C | point mutation | 4 (1/3/0) | |
| HTR2A_promoter_1438G/A | point mutation | promoter | 3 (0/3/0) |
Gene related regions (count: 0)
Gene related GO terms (count: 32)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 32)
Gene related KEGG pathways (count: 3)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa04080 | Neuroactive ligand-receptor interaction | 93 | |
| hsa04020 | Calcium signaling pathway | 63 | Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More... |
| hsa04540 | Gap junction | 27 | Gap junctions contain intercellular channels that allow dire...... Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation. More... |
Genes shared at least 5 GO terms with HTR2A (count: 30)
Genes shared at least 2 KEGG pathways with HTR2A (count: 38)
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Region: chr13:47407513..47471169 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014