PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
HTR2C
5-hydroxytryptamine (serotonin) receptor 2C

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 (Curated Annotation)

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. rs1414334 at chrX:114044400 in HTR2C
    Risk or phenotype-associated allele: C. Phenotype: In a replication study, the C allele of HTR2C rs1414334 polymorphism is associated with development of the metabolic syndrome during treatment with antipsychotics. Study size: 186. Study population/ethnicity: 93% Caucasian; European; Dutch; The Netherlands. Significance metric(s): OR = 3.73; 95% CI= 1.29-10.79; P = 0.015. Type of association: CO.
    Related Drugs:
    antipsychotics
    Related Diseases:
    Metabolic Syndrome X
    Evidence:
    PMID:20680028
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
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
antipsychotics
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
clozapine
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
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
risperidone
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
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
Alcoholism
  •   
  •   
  •   
  •   
  • GN
Publications
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
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
Body Weight Changes
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Diabetes Mellitus, Type 2
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Metabolic Diseases
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
metabolic syndrome
  •   
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Metabolic Syndrome X
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Obesity
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Schizophrenia
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Weight gain
  • CO
  • PD
  •   
  •   
  • GN
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.

  1. A chemogenomic approach to drug discovery: focus on cardiovascular diseases
  2. PMT06_006.xml

Downloads

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LinkOuts

Entrez Gene ID:
3358
OMIM Accession:
312861
UCSC Genome Browser ID:
NM_000868
Ref Seq NM Accession:
NM_000868
Ref Seq NP Accession:
AAA60317
AAB40898
AAC71658
AAF35842
AAH95543
AAM21130
BAG58583
CAB59978
CAH70192
CAH70193
CAI41334
CAI41335
EAX02623
EAX02624
NP_000859
P28335
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
SOURCE ID:
HTR2C
MutDB ID:
HTR2C
PromoLign ID:
ortho_8349
HuGE ID:
HTR2C
Comparative Toxicogenomics Acc ID:
3358
ModBase:
P28335
IUPHAR Receptor ID:
5-HT2C (8)

Common Searches

Non-Curated Publications

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

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