HTR4

Chr 5

5-hydroxytryptamine receptor 4

Also known as: 5-HT4, 5-HT4R

NCBI Gene: 3360ENSG00000164270UniProt: Q13639OMIM: 602164

This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.025
Z-score 2.65
OE 0.33 (0.18–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.70Z-score
OE missense 0.88 (0.78–0.98)
218 obs / 248.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.18–0.65)
0≤0.351.4
Missense OE?0.88 (0.78–0.98)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 6 / 18.2Missense obs/exp: 218 / 248.9Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HTR4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients