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

    Gene ID: 3358, updated on 28-Oct-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (114584086..114910061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (112992593..113318748)
    RS_2024_09 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 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. RNA editing of the human serotonin 5-HT2C receptor disrupts transactivation of the small G-protein RhoA. McGrew L, et al. Mol Pharmacol, 2004 Jan. PMID 14722258
    2. The association between serotonin 2C receptor polymorphisms and weight gain and eating behavior in patients using mirtazapine: a prospective follow-up study. Risselada AJ, et al. J Clin Psychopharmacol, 2010 Apr. PMID 20520301
    3. Polymorphism of the promoter region of the serotonin 5-HT(2C) receptor gene and clozapine-induced weight gain. Reynolds GP, et al. Am J Psychiatry, 2003 Apr. PMID 12668355
    4. Further evidence supporting the association between 5HTR2C gene and bipolar disorder. Mazza M, et al. Psychiatry Res, 2010 Dec 30. PMID 20494452
    5. Association between polymorphisms in the serotonin 2C receptor gene and premature ejaculation in Han Chinese subjects. Luo S, et al. Urol Int, 2010. PMID 20453482

    See all (290) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Increasing Effects of Selective 5-Hydroxytryptamine Type 2C Receptor Stimulation on Evoked Momentary Urethral Closure in Female Rats and Humans.
      Title: Increasing Effects of Selective 5-Hydroxytryptamine Type 2C Receptor Stimulation on Evoked Momentary Urethral Closure in Female Rats and Humans.
    2. Association of Serotonin Receptor Gene Polymorphisms with Regulatory and Adaptive Capacities of Medical Students.
      Title: Association of Serotonin Receptor Gene Polymorphisms with Regulatory and Adaptive Capacities of Medical Students.
    3. 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.
    4. Variation in serotonin 2C receptor linked with obesity and behaviour.
      Title: Variation in serotonin 2C receptor linked with obesity and behaviour.
    5. 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.
    6. Central 5-HTR2C in the Control of Metabolic Homeostasis.
      Title: Central 5-HTR2C in the Control of Metabolic Homeostasis.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (177)

    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
    		  
    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serotonin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serotonin receptor activity 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
    		  
    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
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phospholipase C-activating serotonin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    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
    		  
    involved_in release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in serotonin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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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    NEW Try the new Transcript table

    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_2024_08

    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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