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Gene id 3356
Gene Summary     SNPs    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol HTR2A   Gene   UCSC   Ensembl
Aliases 5-HT2A, HTR2
Gene name 5-hydroxytryptamine receptor 2A
Alternate names 5-hydroxytryptamine receptor 2A, 5-HT2 receptor, 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled, serotonin 5-HT-2A receptor,
Gene location 13q14.2 (46897075: 46831541)     Exons: 4     NC_000004.12
Gene summary(Entrez) This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepres
OMIM 182135

SNPs


rs6313

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.46895805G>A
NC_000013.11   g.46895805G>C
NC_000013.10   g.47469940G>A
NC_000013.10   g.47469940G>C
NG_013011.1   g.6230C>T
NG_013011.1   g.6230C>G
NM_000621.5   c.102C>T
NM_000621.5   c.102C>G
NM_000621.4   c.102C>T
NM_000621.4   c.102C>G
NM_001378924.1  

KEGG pathways

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Pathway idPathway name
hsa04020Calcium signaling pathway
hsa04080Neuroactive ligand-receptor interaction
hsa04540Gap junction
hsa04726Serotonergic synapse
hsa04750Inflammatory mediator regulation of TRP channels
hsa04750Inflammatory mediator regulation of TRP channels
hsa04020Calcium signaling pathway
hsa04080Neuroactive ligand-receptor interaction
hsa04726Serotonergic synapse
hsa04540Gap junction
Associated diseases References
Heart disease GAD: 18618671
Asthma GAD: 11956670
Rheumatoid arthritis GAD: 20179740
Obesity GAD: 20734064
Hypercholesterolemia GAD: 20602615
Metabolic syndrome GAD: 19142110
Tardive dyskinesia GAD: 15383158
Sleep disorders GAD: 16258205
Alzheimer's disease GAD: 11725820
Parkinson disease GAD: 18364387
Panic disorder GAD: 12759158
Anorexia nervosa GAD: 15245785
Attention deficit hyperactivity disorder (ADHD) GAD: 15717291
Autism GAD: 12607287
Bipolar disorder GAD: 11992560
Depression GAD: 16302021
Dyspepsia GAD: 19102423
Schizophrenia GAD: 12579508
Major depressive disorder KEGG: H01646
Obsessive compulsive disorder KEGG: H01450
Asthenozoospermia MIK: 29602729
Systemic scleroderma GAD: 18761744
Asthenozoospermia MIK: 29602729
Male infertility MIK: 29602729
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29602729 Asthenozoo
spermia, M
ale infert
ility
rs6313
285 (182 normos
permia, 103 ast
henozoospermia)
Male infertility
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract