Overview
| Alternate Names: | 5-hydroxytryptamine receptor 2C; OTTHUMP00000023868; OTTHUMP00000023869; serotonin 5-HT-2C receptor; serotonin receptor 2C |
|---|---|
| Alternate Symbols: | 5-HT2C; 5-HTR2C; HTR1C |
| PharmGKB Accession Id: | PA194 |
Details
| Cytogenetic Location: | chrX : q23 |
|---|---|
| GP mRNA Boundary†: | chrX : 113724807 - 114050880 |
| GP Gene Boundary†: | chrX : 113714807 - 114053880 |
| Strand: | plus |
| Product Name: | 5-hydroxytryptamine (serotonin) receptor 2C |
†
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 (
)
-
rs3813928
at chrX:113724538
in
HTR2C
Risk or phenotype-associated allele: A Phenotype: Carriers of the A variant of HTR2C:(-995)G>A had higher Autism Treatment Evaluation Checklist (ATEC) scores, indicating worse symptoms and a poorer response to risperidone, than G homozygotes. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.035 Type of association: PD- Variant Name:
- HTR2C c.-995G>A, HTR2C:(-995)G>A
- Related Drugs:
- risperidone
- Related Diseases:
- Autistic Disorder
- Evidence:
-
PMID:19997080
-
rs3813929
at chrX:113724776
in
HTR2C
This variant is associated with Olanzapine-induced weight gain. The -759T allele confers protective effect towards Olanzapine-induced weight gain in a study consisting of 107 patients with schizophrenia.- Variant Name:
- HTR2C: -759C/T
- Related Drugs:
- olanzapine
- Related Diseases:
- Schizophrenia, Weight gain
- Evidence:
-
PMID:19622037
-
rs3813929
at chrX:113724776
in
HTR2C
Risk or phenotype-associated allele: T. Phenotype: The T allele was more frequently found in subjects not gaining 10% or more of their body weight, compared with those who did gain 10% or more of their body weight. None of the subjects who gained >10% of their initial body weight over 6 weeks carried a T allele (0/11). Study size: 42. Study population/ethnicity: Caucasian acutely ill patients with schizophrenia taking olanzapine. Significance metric(s): p = 0.0035. Type of association: CO.- Variant Name:
- HTR2C:-759C/T; HTR2C:-759C>T
- Related Drugs:
- olanzapine
- Related Diseases:
- Schizophrenia
- Evidence:
-
PMID:15666332
-
rs3813929
at chrX:113724776
in
HTR2C
Risk or phenotype-associated allele: T. Phenotype: Short-term weight gain under olanzapine therapy was significantly lower for 5-HTR2C -759 T-allele carriers. Study size: 124. Study population/ethnicity: Caucasian; Patients with psychiatric disorders. Significance metric(s): p = 0.011. Type of association: PK.- Variant Name:
- HTR2C: -759C/T; HTR2C:(-759)C>T
- Related Drugs:
- olanzapine
- Related Diseases:
- Weight gain
- Evidence:
-
PMID:19636338
-
rs518147
at chrX:113724838
in
HTR2C
This variant is associated with Olanzapine-induced weight gain. The -697C allele confers protective effect towards Olanzapine-induced weight gain in a study consisting of 107 patients with schizophrenia.- Variant Name:
- HTR2C: -697G/C
- Related Drugs:
- olanzapine
- Related Diseases:
- Schizophrenia, Weight gain
- Evidence:
-
PMID:19622037
-
rs6318
at chrX:113871991
in
HTR2C
Ser in position 23 is associated with olanzapine-induced weight gain- Variant Name:
- HTR2C:23Ser; HTR2C:Cys23Ser
- Related Drugs:
- olanzapine
- Related Diseases:
- Weight gain
- Evidence:
-
PMID:19193342
-
rs1414334
at chrX:114044400
in
HTR2C
In a pooled analysis of two studies the variant C allele was specifically associated with the metabolic syndrome in patients using clozapine or risperidone.- Related Drugs:
- clozapine, risperidone
- Related Diseases:
- metabolic syndrome
- Evidence:
-
PMID:19142101
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.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this gene.
Primary genotype data has been submitted and is available
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
antidepressants |
|
Publications |
|
|
antipsychotics |
|
Publications |
| Drug | Relationship | Evidence | |
|---|---|---|---|
|
|
citalopram |
|
Pathways |
|
|
clozapine |
|
Publications, Variants |
|
fluoxetine |
|
Publications, Pathways |
|
|
olanzapine |
|
Publications, Variants |
|
|
paroxetine |
|
Pathways |
|
|
risperidone |
|
Publications, Variants |
|
|
sertraline |
|
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 |
|
Variants |
|
|
Body Weight Changes |
|
Publications |
|
|
Bulimia |
|
Pathways |
|
|
Depression |
|
Publications, Pathways |
|
|
Diabetes Mellitus, Type 2 |
|
Publications |
|
|
metabolic syndrome |
|
Publications, Variants |
|
|
Obesity |
|
Publications |
|
|
Obsessive-Compulsive Disorder |
|
Pathways |
|
|
Schizophrenia |
|
Publications, Variants |
|
|
Weight gain |
|
Publications, 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
- Ref Seq NT Accession:
- AC_000066
- NC_000023
- NT_028405
- NW_927717
- UniProtKB Accesssion:
- 5HT2C_HUMAN (P28335)
- Ensembl ID:
- ENSG00000147246
- GenAtlas ID:
- HTR2C
- GeneCard ID:
- HTR2C
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.