HTR3C 5-hydroxytryptamine receptor 3C [Homo sapiens (human)] - Gene

Summary

Official Symbol: HTR3Cprovided by HGNC
Official Full Name: 5-hydroxytryptamine receptor 3Cprovided by HGNC
Primary source: HGNC:HGNC:24003
See related: Ensembl:ENSG00000178084 MIM:610121; AllianceGenome:HGNC:24003
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
Summary: The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 3q27.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184053047..184060673)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186862612..186870238)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183770835..183778461)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings enrich the allelic spectrum of ABCC5 in PACG. We identified no tagging SNP responsible for the association of the whole region.
Title: Genetic Association of the PARL-ABCC5-HTR3D-HTR3C Locus With Primary Angle-Closure Glaucoma in Chinese.
Our study indicates, for the first time, an association between variants of HTR3C and severity of chemotherapy-induced symptoms
Title: Association between variants of 5-hydroxytryptamine receptor 3C (HTR3C) and chemotherapy-induced symptoms in women receiving adjuvant treatment for breast cancer.
The association findings of the HTR3C and the HTR3E remained significant after correction for the number of variants investigated.
Title: 5-HT3 receptor influences the washing phenotype and visual organization in obsessive-compulsive disorder supporting 5-HT3 receptor antagonists as novel treatment option.
Data show that 5-HT3C, 5-HT3D, and 5-HT3E subunits are coexpressed with 5-HT3A in cell bodies of myenteric neurons, and that 5-HT3A and 5-HT3D were expressed in submucosal plexus of the human large intestine.
Title: Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E.
Six functional and coding variants of the subunit genes HTR3A, HTR3B as well as the novel HTR3C, HTR3D, and HTR3E subunits in the response to haloperidol or risperidone, were assessed.
Title: Influence of 5-HT3 receptor subunit genes HTR3A, HTR3B, HTR3C, HTR3D and HTR3E on treatment response to antipsychotics in schizophrenia.
Polymorphisms in the subunit gene HTR3C of the serotonin receptor may be involved in the pathogenesis of pregnancy-associated nausea.
Title: Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy.
Observational study of gene-disease association. (HuGE Navigator)
Title: A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
HTR3C represents a novel candidate locus for autism spectrum disorders and should be tested in other populations.
Title: Allelic variants in HTR3C show association with autism.
Polymorphisms in the HTR3C gene could serve as a predictive factor for chemotherapy-induced nausea and vomiting in patients undergoing moderately emetogenic chemotherapy.
Title: Polymorphisms in the novel serotonin receptor subunit gene HTR3C show different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Investigation of HTR3C mutations for association with 5HT(3) receptor antagonist anti-emetic efficacy.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables excitatory extracellular ligand-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serotonin-gated monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables serotonin-gated monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in serotonin-gated cation-selective signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of serotonin-activated cation-selective channel complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 5-hydroxytryptamine receptor 3C

Names: 5-HT3-C; 5-HT3C; 5-hydroxytryptamine (serotonin) receptor 3, family member C; 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic; 5-hydroxytryptamine receptor 3 subunit C; serotonin receptor 3C

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_012749.1 RefSeqGene

Range

5001..12627

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_130770.3 → NP_570126.2 5-hydroxytryptamine receptor 3C precursor

See identical proteins and their annotated locations for NP_570126.2

Status: REVIEWED

Source sequence(s)

AC131235

Consensus CDS

CCDS3250.1

UniProtKB/Swiss-Prot

A2RRR5, Q8WXA8

Related

ENSP00000322617.1, ENST00000318351.2

Conserved Domains (1) summary

cl27321
Location:43 → 445

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain