HTR3E 5-hydroxytryptamine receptor 3E [Homo sapiens (human)] - Gene

Summary

Official Symbol: HTR3Eprovided by HGNC
Official Full Name: 5-hydroxytryptamine receptor 3Eprovided by HGNC
Primary source: HGNC:HGNC:24005
See related: Ensembl:ENSG00000186038 MIM:610123; AllianceGenome:HGNC:24005
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: 5-HT3E; 5-HT3-E; 5-HT3c1
Summary: This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012]
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 (184097064..184106995)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186906628..186916555)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183814852..183824783)

Chromosome 3 - NC_000003.12 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 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?

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.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy.
This study provides additional evidence for a role of the serotonergic system and the 5-HT3 receptor in schizophrenia
Title: A coding variant of the novel serotonin receptor subunit 5-HT3E influences sustained attention in schizophrenia patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
The binding site for miR-510 is solely located in the 3' UTR of the HTR3E gene. No predicted binding site for miR-510 exists in the 3' UTR of HTR3A.
Title: First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome.
Data show that 5-HT3 receptors locat in the nucleus tractus silitarius contribute to stress-induced suppression of the baroreflex.
Title: Central 5-HT receptors in cardiovascular control during stress.
MicroRNA-510 target site of the 3'UTR of HTR3A and HTR3E are associated with the irritable bowel syndrome with diarrhea.
Title: First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome.

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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

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 3E

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

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_012452.1 RefSeqGene

Range

1886..11817

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256613.2 → NP_001243542.1 5-hydroxytryptamine receptor 3E isoform d precursor

See identical proteins and their annotated locations for NP_001243542.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences in the 5' UTR and coding region, compared to variant 1. These differences result in translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC131235, DQ644022

Consensus CDS

CCDS58868.1

UniProtKB/Swiss-Prot

A5X5Y0, A8IKD7, E9PGF1, Q495G1, Q495G3, Q6V706, Q6V707, Q7Z6B2

Related

ENSP00000401444.2, ENST00000415389.6

Conserved Domains (2) summary

pfam02931
Location:55 → 247

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:254 → 353

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001256614.1 → NP_001243543.1 5-hydroxytryptamine receptor 3E isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a longer protein (isoform e), compared to isoform a.

Source sequence(s)

AC131235, AY159813, DQ644022, EU165354

Consensus CDS

CCDS58871.1

UniProtKB/Swiss-Prot

A5X5Y0

Related

ENSP00000406050.2, ENST00000440596.2

Conserved Domains (2) summary

pfam02931
Location:70 → 273

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:280 → 379

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_182589.2 → NP_872395.2 5-hydroxytryptamine receptor 3E isoform a

See identical proteins and their annotated locations for NP_872395.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AC131235, AY159813

Consensus CDS

CCDS3251.1

UniProtKB/Swiss-Prot

A5X5Y0

Related

ENSP00000335511.2, ENST00000335304.6

Conserved Domains (2) summary

pfam02931
Location:70 → 262

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:269 → 368

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_198313.3 → NP_938055.1 5-hydroxytryptamine receptor 3E isoform c precursor

See identical proteins and their annotated locations for NP_938055.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the 5' UTR and coding region, compared to variant 1. This variant encodes isoform c, which has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC131235, AY349352, DQ644022

Consensus CDS

CCDS58869.1

UniProtKB/Swiss-Prot

A5X5Y0

Related

ENSP00000401900.2, ENST00000425359.6

Conserved Domains (2) summary

pfam02931
Location:55 → 232

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:239 → 338

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_198314.2 → NP_938056.1 5-hydroxytryptamine receptor 3E isoform b

See identical proteins and their annotated locations for NP_938056.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AC131235, AY159813, AY349353, DQ644022

Consensus CDS

CCDS58870.1

UniProtKB/Swiss-Prot

A5X5Y0

Related

ENSP00000395833.2, ENST00000436361.6

Conserved Domains (2) summary

pfam02931
Location:70 → 247

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:254 → 353

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region