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

Gene ID: 3358, updated on 7-Sep-2023

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; AllianceGenome:HGNC:5295
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
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (114584086..114910061)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (112992593..113318748)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (113818559..114144624)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TNPO3 pseudogene 1 Neighboring gene SSU72 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:113685459-113686356 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:113700885-113701440 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:113836715-113837329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:113818053-113818558 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:113835484-113836099 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:113841219-113842104 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 H3K4me1 hESC enhancer GRCh37_chrX:113934941-113935442 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 MED14-independent group 3 enhancer GRCh37_chrX:114140926-114142125 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. Variation in serotonin 2C receptor linked with obesity and behaviour. Starling S. Nat Rev Endocrinol, 2023 Mar. PMID 36658216
  2. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior. He Y, et al. Nat Med, 2022 Dec. PMID 36536256, Free PMC Article
  3. Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population. Temel SG, et al. Acta Dermatovenerol Croat, 2021 Dec. PMID 34990340
  4. Central 5-HTR2C in the Control of Metabolic Homeostasis. Yao T, et al. Front Endocrinol (Lausanne), 2021. PMID 34367066, Free PMC Article
  5. Effect of 5-HT2C receptor gene polymorphism (HTR2C-759C/T) on metabolic adverse effects in Thai psychiatric patients treated with risperidone. Vanwong N, et al. Pharmacoepidemiol Drug Saf, 2021 Jun. PMID 33683783

See all (287) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Platelet Serotonin (5-HT) Concentration, Platelet Monoamine Oxidase B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene Polymorphisms in Asthma.
    Title: Platelet Serotonin (5-HT) Concentration, Platelet Monoamine Oxidase B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene Polymorphisms in Asthma.
  2. Variation in serotonin 2C receptor linked with obesity and behaviour.
    Title: Variation in serotonin 2C receptor linked with obesity and behaviour.
  3. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior.
    Title: Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior.
  4. Central 5-HTR2C in the Control of Metabolic Homeostasis.
    Title: Central 5-HTR2C in the Control of Metabolic Homeostasis.
  5. Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population.
    Title: Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population.
  6. Effect of 5-HT2C receptor gene polymorphism (HTR2C-759C/T) on metabolic adverse effects in Thai psychiatric patients treated with risperidone.
    Title: Effect of 5-HT2C receptor gene polymorphism (HTR2C-759C/T) on metabolic adverse effects in Thai psychiatric patients treated with risperidone.
  7. 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.
  8. Serotonin 5-HT2C Receptor Cys23Ser Single Nucleotide Polymorphism Associates with Receptor Function and Localization In Vitro.
    Title: Serotonin 5-HT(2C) Receptor Cys23Ser Single Nucleotide Polymorphism Associates with Receptor Function and Localization In Vitro.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (175)

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 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 intracellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
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 G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
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 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 
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 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
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
    UniProtKB/Swiss-Prot
    B1AMW4, P28335, Q5VUF8, Q9NP28
    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
    UniProtKB/Swiss-Prot
    B1AMW4, P28335, Q5VUF8, Q9NP28
    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 precursor

    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
    UniProtKB/TrEMBL
    K9J958
    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: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    114584086..114910061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    112992593..113318748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28335.2 GenPept UniProtKB/Swiss-Prot:P28335

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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