HTR3E

5-Hydroxytryptamine Receptor 3E

Gene Information Card

Symbol HTR3E
Full Name 5-Hydroxytryptamine Receptor 3E
Gene Type protein-coding
Chromosomal Location 3q27.1
NCBI Gene ID 285242 ncbi.nlm.nih.gov/gene/285242
Ensembl ID ENSG00000186038
UniProt ID A5X5Y0
OMIM ID 610123
HGNC ID 24005
Aliases 5-HT3E, MGC119718

Description

HTR3E encodes the E subunit of the 5-hydroxytryptamine receptor 3 (5-HT3), a pentameric ligand-gated ion channel that mediates fast excitatory neurotransmission in response to serotonin. The 5-HT3E subunit can form functional homomeric channels or co-assemble with other 5-HT3 subunits (e.g., A, B, C, D) to modulate receptor properties such as conductance and pharmacology. Expression is predominantly in the gastrointestinal tract and central nervous system, with roles in emesis, pain, and mood regulation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Irritable Bowel Syndrome (IBS) Altered 5-HT3 receptor function due to HTR3E variants may affect gut motility and visceral hypersensitivity. ClinVar; PMID: 20628055
Chemotherapy-Induced Nausea and Vomiting (CINV) 5-HT3 receptor antagonists target HTR3E-containing receptors to block emetic signals. ClinVar; PMID: 23143523
Schizophrenia Genetic association studies link HTR3E polymorphisms to altered serotonergic signaling. OMIM; PMID: 18382116

Expression Profile

Tissue Expression
Tissue nTPM level
Small intestine 12.5 Medium
Colon 10.3 Medium
Stomach 8.1 Low
Brain (cortex) 2.4 Low
Testis 1.8 Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 3.2 Detectable
Caco-2 (colorectal adenocarcinoma) 6.7 Moderate
HEK293 (embryonic kidney) 0.5 Low
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Likely loss of start codon; functional impact unknown
c.103G>A (p.Gly35Ser) missense 0.02% May alter ligand binding; associated with IBS
c.457C>T (p.Arg153Cys) missense 0.01% Potential disruption of channel gating
Mutation functional classification

Loss of Function (LOF)

p.Met1? (start loss) and p.Arg153Cys are predicted to reduce or abolish receptor function.

Gain of Function (GOF)

No confirmed gain-of-function variants reported.

Dominant Negative (DN)

Not established for HTR3E.

Pathways

• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• 5-HT3 receptor signaling (Reactome: R-HSA-975298)

Protein Summary

The 5-HT3E protein is a 438-amino acid subunit of the 5-HT3 receptor, a cation-selective ion channel. It contains four transmembrane domains (M1-M4), a large extracellular N-terminal ligand-binding domain, and a cytoplasmic loop between M3 and M4. The E subunit confers unique pharmacological properties, including reduced sensitivity to certain antagonists compared to the A subunit. Homomeric 5-HT3E channels exhibit small conductance and rapid desensitization.

Related Products

Product name Cat.No. Species Gene ID
HTR3E Knockout HEK293 Cell Line EDJ-KQ13790 Human 285242 Details Get a Quote
HTR3E Knockout HeLa Cell Line EDJ-KQ59507 Human 285242 Details Get a Quote
HTR3E Knockout A-549 Cell Line EDJ-KQ67976 Human 285242 Details Get a Quote
HTR3E Knockout HCT 116 Cell Line EDJ-KQ76352 Human 285242 Details Get a Quote
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