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

Summary

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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Variation in serotonin 2C receptor linked with obesity and behaviour.
Title: Variation in serotonin 2C receptor linked with obesity and behaviour.
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.
Central 5-HTR2C in the Control of Metabolic Homeostasis.
Title: Central 5-HTR2C in the Control of Metabolic Homeostasis.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH1706 (e-PCR)
- UniSTS:78097

RH121682 (e-PCR)
- UniSTS:134421

AL022533 (e-PCR)
- UniSTS:64277

HTR2C (e-PCR)
- UniSTS:498203

AL032548 (e-PCR)
- UniSTS:93248

AL023919 (e-PCR)
- UniSTS:40514

BB315810 (e-PCR)
- UniSTS:208459

HTR2C_347 (e-PCR)
- UniSTS:277341

DXS7598 (e-PCR)
- UniSTS:37500

RH11284 (e-PCR)
- UniSTS:7048

AL008908 (e-PCR)
- UniSTS:6797

AL008895 (e-PCR)
- UniSTS:24229

RH70924 (e-PCR)
- UniSTS:33706

AL008896 (e-PCR)
- UniSTS:25832

stdJ788M24T7 (e-PCR)
- UniSTS:181745

GDB:603978 (e-PCR)
- UniSTS:158200

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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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

NG_012082.3 RefSeqGene

Range

5002..330977

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1009

mRNA and Protein(s)

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
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
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