Gene:
HTR2A
5-hydroxytryptamine (serotonin) receptor 2A

Overview

Alternate Names: 5-HT2 receptor; OTTHUMP00000018378
Alternate Symbols: 5-HT2A; HTR2
PharmGKB Accession Id: PA193

Details

Cytogenetic Location: chr13 : q14.2
GP mRNA Boundary: chr13 : 46305514 - 46368176
GP Gene Boundary: chr13 : 46302514 - 46378176
Strand: minus
Product Name: 5-HT2 receptor, 5-hydroxytryptamine (serotonin) receptor 2A
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Curated Annotations (Curated Annotation)

  1. rs6314 at chr13:46307035 in HTR2A
    In a study in a unipolar depressive population (n=166) this variant showed an association with remission and response following paroxetine therapy. HTR2A C1354T heterozygotes were significantly associated with improved response to paroxetine therapy. The SNP was also studied as a modifier of antidepressant response in a study in depressed patients (n=173) given a variety of antidepressant treatments with no association found, however another report found the HTR2A T1354 allele to be associated with response to fluoxetine.
    Variant Name:
    HTR2A: C1354T
    Related Drugs:
    fluoxetine, paroxetine
    Related Diseases:
    Depression
    Evidence:
    PMID:11311507
    PMID:15052272
    PMID:18253134
  2. rs6314 at chr13:46307035 in HTR2A
    This variant in the gene encoding the serotonin 2A receptor has been associated with human episodic memory performance and with differences in brain volume in memory-related brain regions.
    Variant Name:
    HTR2A: His452Tyr
    Evidence:
    PMID:14699448
    PMID:15891581
    PMID:18602445
  3. rs7997012 at chr13:46309986 in HTR2A
    In one study, subjects homozygous for allele A had a reduction in absolute risk of having no response to treatment with citalopram for major depressive disorder. The allele was found to be more frequent in white than in black subjects, and this is consistant with racial differences in response to antidepressant treatment.
    Related Drugs:
    citalopram
    Related Diseases:
    Depressive Disorder, Major
    Evidence:
    PMID:16642436
  4. rs7997012 at chr13:46309986 in HTR2A
    Risk or phenotype-associated allele: A. Phenotype: Patients with the 5-HTR2A intron 2 (rs7997012) AA genotype suffered from more pronounced side effects compared to carriers of the GA or GG genotype. Study size: 124. Study population/ethnicity: Caucasian; Patients with psychiatric disorders. Significance metric(s): p = 0.018 and p = 0.002. Type of association: PD.
    Variant Name:
    5-HTR2A intron 2 variant
    Related Drugs:
    olanzapine
    Evidence:
    PMID:19636338
  5. rs9316233 at chr13:46331356 in HTR2A
    A sudy of 760 adult patients with moderate-to-severe depression, treated with escitalopram found that individuals carrying two minor alleles of rs9316233 variant in the HTR2A gene achieved an improvement that was on average 3.1 MADRS points more than individuals carrying two common alleles during escitalopram treatment. This explains 1.1% of variance (P=0.0016) of the response to escitalopram.
    Related Drugs:
    escitalopram
    Related Diseases:
    Depression
    Evidence:
    PMID:19365399
  6. rs6313 at chr13:46367941 in HTR2A
    T allele is associated with olanzapine-induced weight gain
    Variant Name:
    HTR2A:T102C; HTR2A:102C>T
    Related Drugs:
    olanzapine
    Related Diseases:
    Weight gain
    Evidence:
    PMID:19193342
  7. rs6313 at chr13:46367941 in HTR2A
    Risk or phenotype-associated allele (s): T/T. Phenotype: Patients, with a diagnosis of probable Alzheimer's disease, carrying the TT genotype were the most delusional during the follow-up period of a study evaluating the association of HTR2A 102T/C polymorphism with psychotic symptom severity. Patients with delusion symptoms carrying the CT and TT genotypes were resistant to the treatment with antipsychotic drugs. Study size: 80. Study population/ethnicity: Caucasian
    Variant Name:
    HTR2A:T102C; HTR2A:102C>T
    Related Drugs:
    olanzapine, risperidone
    Related Diseases:
    Alzheimer Disease
    Evidence:
    PMID:19494443
  8. rs6311 at chr13:46369479 in HTR2A
    Associated with anorexia and bulimia. The AA genotype was found to be a risk factor for tardive dyskinesia (TD).
    Variant Name:
    HTR2A:-1438G>A
    Evidence:
    PMID:17688403
    PMID:17804117
  9. rs6311 at chr13:46369479 in HTR2A
    The A allele of -1438G/A is suggested to have increased promoter activity in functional in vitro studies. In silico analysis revealed that the -1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in the development of the nervous system. The SNP was also associated with Chronic fatigue syndrome together with rs 6313 and rs1923884.
    Variant Name:
    HTR2A: -1438G/A
    Related Diseases:
    Depression
    Evidence:
    PMID:15364038
    PMID:18079067
  10. rs6311 at chr13:46369479 in HTR2A
    Risk or phenotype-associated allele: A Phenotype: Carriers of the A variant of HTR2A:(-1438)G>A had lower Autism Treatment Evaluation Checklist (ATEC) scores than GG homozygotes, indicating improved symptoms and response to risperidone. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.019 Type of association: PD
    Variant Name:
    HTR2A c.-1438G>A, HTR2A:(-1438)G>A
    Related Drugs:
    risperidone
    Related Diseases:
    Autistic Disorder
    Evidence:
    PMID:19997080
Variant names are different names that have been used in the literature and other resources to refer to the same variant.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Curated Information

The following drugs are in curated knowledge about this gene.

  Drug Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
antidepressants
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
antipsychotics
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Selective serotonin reuptake inhibitors
  • CO
  •   
  •   
  •   
  • GN
Publications
  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
aripiprazole
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
citalopram
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
clozapine
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
escitalopram
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
fluoxetine
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
fluvoxamine
  •   
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
nicotine
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
olanzapine
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
paroxetine
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
risperidone
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
sertraline
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
trazodone
  •   
  • PD
  •   
  •   
  •   
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Autism Spectrum Disorder
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Autistic Disorder
  •   
  •   
  •   
  •   
  • GN
Publications, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
Depression
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Depressive Disorder
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Depressive Disorder, Major
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Schizophrenia
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Sexual Dysfunctions, Psychological
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Tobacco Use Disorder
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Weight gain
  •   
  •   
  •   
  •   
  •   
Variants

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

Downloads

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LinkOuts

UniProtKB Accesssion:
5HT2A_HUMAN (P28223)
Ensembl ID:
ENSG00000102468
GenAtlas ID:
HTR2A
GeneCard ID:
HTR2A
SOURCE ID:
HTR2A
MutDB ID:
HTR2A
PromoLign ID:
ortho_5512
ALFRED ID:
LO000287R
HuGE ID:
HTR2A
Comparative Toxicogenomics Acc ID:
3356
ModBase:
P28223
IUPHAR Receptor ID:
5-HT2A (6)

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

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