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HTR2C 5-hydroxytryptamine receptor 2C [ Homo sapiens (human) ]

Gene ID: 3358, updated on 22-Aug-2021

Summary

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Official Symbol
HTR2Cprovided by HGNC
Official Full Name
5-hydroxytryptamine receptor 2Cprovided by HGNC
Primary source
HGNC:HGNC:5295
See related
Ensembl:ENSG00000147246 MIM:312861
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTR1C; 5-HT1C; 5-HT2C; 5HTR2C; 5-HTR2C
Summary
This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]
Expression
Restricted expression toward brain (RPKM 1.3) See more
Orthologs
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Genomic context

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See HTR2C in Genome Data Viewer
Location:
Xq23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (114584086..114910061)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (113818551..114144624)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TNPO3 pseudogene 1 Neighboring gene SSU72 pseudogene 1 Neighboring gene ribosomal protein L36a pseudogene 53 Neighboring gene small nucleolar RNA, H/ACA box 35 Neighboring gene microRNA 764 Neighboring gene microRNA 1912 Neighboring gene microRNA 1264 Neighboring gene uncharacterized LOC105373313 Neighboring gene microRNA 1298 Neighboring gene microRNA 1911 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 7 Neighboring gene microRNA 448 Neighboring gene RNA, U6 small nuclear 648, pseudogene Neighboring gene interleukin 13 receptor subunit alpha 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Serotonin 5-HT2C Receptor Cys23Ser Single Nucleotide Polymorphism Associates with Receptor Function and Localization In Vitro. Land MA, et al. Sci Rep, 2019 Nov 13. PMID 31723224, Free PMC Article
  2. Serotonin system gene variants and regional brain volume differences in pediatric OCD. Sinopoli VM, et al. Brain Imaging Behav, 2020 Oct. PMID 31187473
  3. Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents. Paes LA, et al. Braz J Med Biol Res, 2018. PMID 29924134, Free PMC Article
  4. Genetic polymorphisms of HTR2C, LEP and LEPR on metabolic syndromes in patients treated with atypical antipsychotic drugs. Puangpetch A, et al. J Pharm Pharmacol, 2018 Apr. PMID 29441581
  5. 5-HT2C Receptor Structures Reveal the Structural Basis of GPCR Polypharmacology. Peng Y, et al. Cell, 2018 Feb 8. PMID 29398112, Free PMC Article

See all (279) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Serotonin system gene variants and regional brain volume differences in pediatric OCD.
    Title: Serotonin system gene variants and regional brain volume differences in pediatric OCD.
  2. Serotonin 5-HT2C Receptor Cys23Ser Single Nucleotide Polymorphism Associates with Receptor Function and Localization In Vitro.
    Title: Serotonin 5-HT<sub>2C</sub> Receptor Cys23Ser Single Nucleotide Polymorphism Associates with Receptor Function and Localization In Vitro.
  3. Our work suggests that the studied polymorphisms, 5HT1A (rs6295), 5HT1B (rs6296), and 5HT2C (rs6318), were not related to the presence of temporal lobe epilepsy (TLE), psychiatric comorbidities in TLE, and epilepsy-related factors.
    Title: Genetic polymorphisms of the 5HT receptors are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis.
  4. Demonstrated that a 5-HT2AR:5-HT2CR interaction occurs in cultured cells using three complementary biophysical techniques with increasing spatial resolution. Findings indicate these receptors form a close biophysical interaction within 10 nm in living cells.
    Title: Biophysical validation of serotonin 5-HT2A and 5-HT2C receptor interaction.
  5. two structures of the 5-HT2C receptor in complex with the highly promiscuous agonist ergotamine and the 5-HT2A-C receptor-selective inverse agonist ritanserin at resolutions of 3.0 A and 2.7 A, respectively.
    Title: 5-HT<sub>2C</sub> Receptor Structures Reveal the Structural Basis of GPCR Polypharmacology.
  6. The multivariate analysis showed the following factors as associated with the polymorphism: higher cigarette consumption, being a woman, and not having abdominal obesity. The area under the ROC curve was 0.706. An association was found between increased cigarette consumption over the years and the presence of the C allele of the rs1414334 polymorphism in the HTR2C gene
    Title: Relationship between the rs1414334 C/G polymorphism in the HTR2C gene and smoking in patients treated with atypical antipsychotics.
  7. The study emphasised the potential role of 5HT2C receptor gene polymorphisms in Egyptian patients with lifelong premature ejaculation.
    Title: Study of the prevalence of 5 HT-2C receptor gene polymorphisms in Egyptian patients with lifelong premature ejaculation.
  8. No differences were found between murderers and thieves either concerning 5HTTLPR and 5-HT2C genotypes or concerning psychological measures. Comparison of polymorphism distribution between groups of prisoners and controls revealed highly significant associations of 5HTTLPR and 5-HTR2C (rs6318) gene polymorphisms with being convicted for criminal behavior.
    Title: Association of Polymorphisms of Serotonin Transporter (5HTTLPR) and 5-HT2C Receptor Genes with Criminal Behavior in Russian Criminal Offenders.
  9. Genetic variants in HTR2C are involved in the susceptibility to metabolic syndrome in patients treated with atypical antipsychotics.
    Title: Genetic polymorphisms of HTR2C, LEP and LEPR on metabolic syndromes in patients treated with atypical antipsychotic drugs.
  10. The presence of the G allele of rs6318 of the HTR2C gene was found to be associated with characteristics of aggressive behavior and social problems, and aggressive behavior was found to be associated with heterozygosis in females.
    Title: Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents.
Submit: New GeneRIF Correction See all GeneRIFs (169)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables G protein-coupled serotonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables G protein-coupled serotonin receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables Gq/11-coupled serotonin receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serotonin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in G protein-coupled serotonin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in behavioral fear response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cGMP-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in feeding behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in phospholipase C-activating serotonin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipase C-activating serotonin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of phosphatidylinositol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of appetite ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of corticotropin-releasing hormone secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of nervous system process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to xenobiotic stimulus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
part_of G protein-coupled serotonin receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
5-hydroxytryptamine receptor 2C
Names
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
5-hydroxytryptamine receptor 1C
serotonin 5-HT-1C receptor
serotonin 5-HT-2C receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012082.3 RefSeqGene

    Range
    5002..330977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1009

mRNA and Protein(s)

  1. NM_000868.4 → NP_000859.2  5-hydroxytryptamine receptor 2C isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a). This variant may undergo RNA editing.
    Source sequence(s)
    AC233299, AL355812, AL590097
    Consensus CDS
    CCDS14564.1
    Related
    ENSP00000276198.1, ENST00000276198.6
    Conserved Domains (1) summary
    cd15305
    Location:54 → 385
    7tmA_5-HT2C; serotonin receptor subtype 2C, member of the class A family of seven-transmembrane G protein-coupled receptors

  2. NM_001256760.3 → NP_001243689.2  5-hydroxytryptamine receptor 2C isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a). This variant may undergo RNA editing.
    Source sequence(s)
    AC233299, AL355812, AL590097
    Consensus CDS
    CCDS14564.1
    Related
    ENSP00000361019.1, ENST00000371951.5
    Conserved Domains (1) summary
    cd15305
    Location:54 → 385
    7tmA_5-HT2C; serotonin receptor subtype 2C, member of the class A family of seven-transmembrane G protein-coupled receptors

  3. NM_001256761.3 → NP_001243690.2  5-hydroxytryptamine receptor 2C isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as 5-HT2C-tr) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC233299, AL355812, AL590097
    Consensus CDS
    CCDS59174.1
    Related
    ENSP00000361018.3, ENST00000371950.3
    Conserved Domains (2) summary
    cd14964
    Location:55 → 81
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:54 → 155
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    114584086..114910061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28335.1 GenPept UniProtKB/Swiss-Prot:P28335

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