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 |
Curated Annotations (
)
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
|
antidepressants |
|
Publications |
|
|
antipsychotics |
|
Publications |
|
|
Selective serotonin reuptake inhibitors |
|
Publications |
| Drug | Relationship | Evidence | |
|---|---|---|---|
|
|
aripiprazole |
|
Publications |
|
|
citalopram |
|
Publications, Pathways, Variants |
|
|
clozapine |
|
Publications |
|
|
escitalopram |
|
Publications, Variants |
|
|
fluoxetine |
|
Publications, Pathways, Variants |
|
|
fluvoxamine |
|
Publications |
|
|
nicotine |
|
Publications |
|
|
olanzapine |
|
Publications, Variants |
|
|
paroxetine |
|
Publications, Pathways, Variants |
|
|
risperidone |
|
Publications, Variants |
|
|
sertraline |
|
Publications, Pathways |
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 | |
|---|---|---|---|
|
|
Autism Spectrum Disorder |
|
Publications |
|
|
Autistic Disorder |
|
Publications, Variants |
|
|
Bulimia |
|
Pathways |
|
|
Depression |
|
Publications, Pathways, Variants |
|
|
Depressive Disorder |
|
Publications |
|
|
Depressive Disorder, Major |
|
Publications, Variants |
|
|
Obsessive-Compulsive Disorder |
|
Pathways |
|
|
Schizophrenia |
|
Publications |
|
|
Sexual Dysfunctions, Psychological |
|
Publications |
|
|
Tobacco Use Disorder |
|
Publications |
|
|
Weight gain |
|
Variants |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Additional Datasets
These datasets are minimally curated and are sorted alphabetically by title.
Downloads
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LinkOuts
- Entrez Gene ID:
- 3356
- OMIM Accession:
- 103780
- 164230
- 181500
- 182135
- 606788
- 608516
- UCSC Genome Browser ID:
- NM_000621
- Ref Seq NM Accession:
- NM_000621
- Ref Seq NP Accession:
- AAA58354
- AAB22791
- AAB24166
- AAB31320
- AAH69356
- AAH69576
- AAH74848
- AAH74849
- AAH96839
- AAM21129
- BAA90433
- BAG36822
- BAG63991
- CAA01675
- CAA40963
- CAI12227
- CAI16877
- EAX08770
- NP_000612
- P28223
- Q9P2Q9
- Ref Seq NT Accession:
- AC_000056
- AC_000145
- NC_000013
- NT_024524
- NW_001838074
- NW_925473
- 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
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.
