HTR3B

5-Hydroxytryptamine Receptor 3B

Gene Information Card

Symbol HTR3B
Full Name 5-Hydroxytryptamine Receptor 3B
Gene Type protein-coding
Chromosomal Location 11q23.2
NCBI Gene ID 9177 ncbi.nlm.nih.gov/gene/9177
Ensembl ID ENSG00000186038
UniProt ID O95264
OMIM ID 604654
HGNC ID 5299
Aliases 5-HT3B, 5-HT3-B, 5-HT3B subunit

Description

HTR3B encodes the B subunit of the 5-hydroxytryptamine receptor 3 (5-HT3), a pentameric ligand-gated ion channel that mediates fast excitatory neurotransmission in the central and peripheral nervous systems. The B subunit co-assembles with the A subunit to form functional heteromeric channels with distinct pharmacological and biophysical properties. HTR3B is expressed in brain regions such as the hippocampus and cortex, as well as in gastrointestinal neurons. Variants in HTR3B have been associated with psychiatric disorders, irritable bowel syndrome, and chemotherapy-induced nausea.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Irritable Bowel Syndrome (IBS) Altered 5-HT3 receptor function affects gut motility and visceral sensitivity ClinVar, PMID: 16916642
Schizophrenia HTR3B variants may modulate serotonergic signaling and cognitive function ClinVar, PMID: 20080012
Bipolar Disorder Polymorphisms in HTR3B linked to mood regulation ClinVar, PMID: 19118851
Chemotherapy-Induced Nausea and Vomiting HTR3B variants influence response to 5-HT3 antagonists ClinVar, PMID: 18559845

Expression Profile

Tissue Expression
Tissue nTPM level
Brain (cortex) 5.2 Medium
Hippocampus 4.8 Medium
Small intestine 3.1 Low
Colon 2.9 Low
Stomach 2.5 Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 6.1 Neuronal model
Caco-2 (colorectal) 3.4 Intestinal epithelial
HEK293 (embryonic kidney) 0.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.178G>A (p.Val60Ile) Missense <0.01% Altered channel kinetics; associated with IBS
c.386A>G (p.Tyr129Cys) Missense <0.01% Reduced receptor function; linked to schizophrenia
c.553C>T (p.Arg185Trp) Missense <0.01% Impaired subunit assembly; reported in bipolar disorder
Mutation functional classification

Loss of Function (LOF)

p.Tyr129Cys reduces channel conductance and surface expression.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

p.Arg185Trp disrupts pentamer formation and co-assembly with HTR3A.

Pathways

• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• 5-HT3 receptor signaling (Reactome: R-HSA-375280)

Protein Summary

The 5-HT3B protein (UniProt O95264) is a 441-amino acid subunit of the 5-HT3 receptor. It contains four transmembrane domains (M1-M4) and a large extracellular N-terminal domain that contributes to ligand binding. Unlike the homomeric 5-HT3A receptor, the heteromeric 5-HT3AB channel exhibits larger single-channel conductance, faster desensitization, and altered pharmacology. The B subunit is essential for modulating serotonergic signaling in neurons and enteric cells.

Related Products

Product name Cat.No. Species Gene ID
HTR3B Knockout HEK293 Cell Line EDJ-KQ3318 Human 9177 Details Get a Quote
HTR3B Knockout HeLa Cell Line EDJ-KQ55099 Human 9177 Details Get a Quote
HTR3B Knockout A-549 Cell Line EDJ-KQ63578 Human 9177 Details Get a Quote
HTR3B Knockout HCT 116 Cell Line EDJ-KQ72044 Human 9177 Details Get a Quote
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