TAS2R38

Chr 7

taste 2 receptor member 38

Also known as: PTC, T2R38, T2R61, THIOT

NCBI Gene: 5726ENSG00000257138UniProt: P59533

This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009]

106
ClinVar variants
47
Pathogenic / LP
0.13
pLI score
0
Active trials
Clinical Summary— TAS2R38
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.13) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
47 Pathogenic / Likely Pathogenic· 55 VUS of 106 total submissions
Some data sources returned errors (2)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.13LOEUF
pLI 0.130
Z-score 1.40
OE 0.36 (0.15–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.73Z-score
OE missense 0.84 (0.74–0.97)
150 obs / 177.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.36 (0.15–1.13)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.84 (0.74–0.97)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.89
0≤1.21.6
LoF obs/exp: 2 / 5.6Missense obs/exp: 150 / 177.6Syn Z: 0.72

ClinVar Variant Classifications

106 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic46
Likely Pathogenic1
VUS55
Likely Benign3
Benign1
46
Pathogenic
1
Likely Pathogenic
55
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
46
0
46
Likely Pathogenic
0
0
1
0
1
VUS
0
52
3
0
55
Likely Benign
0
2
0
1
3
Benign
0
0
1
0
1
Total054511106

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TAS2R38 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Berberine in combination with evodiamine ameliorates gastroesophageal reflux disease through TAS2R38/TRPV1-mediated regulation of MAPK/NF-κB signaling pathways and macrophage polarization.
Cui G et al.·Phytomedicine
2024
A meta-analysis on polymorphic trait of taste perception mediated by TAS2R38 genotype.
Shivam V·Exp Clin Psychopharmacol
2024Review
Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype.
Pifferi M et al.·Thorax
2024
Distribution of TAS2R38 bitter taste receptor phenotype and haplotypes among COVID-19 patients.
Risso D et al.·Sci Rep
2022Cohort
Self-reported Smoking Status, TAS2R38 Variants, and Propylthiouracil Phenotype: An Exploratory Crowdsourced Cohort Study.
Baker AN et al.·Chem Senses
2018Cohort
Bitter Taste Receptors in Bacterial Infections and Innate Immunity.
Rudolph E et al.·Immun Inflamm Dis
2025Review
6-n-propylthiouracil taste disruption and TAS2R38 nontasting form in Parkinson's disease.
Cossu G et al.·Mov Disord
2018
TAS1R3 and TAS2R38 Polymorphisms Affect Sweet Taste Perception: An Observational Study on Healthy and Obese Subjects.
Cecati M et al.·Nutrients
2022
TAS2R38 bitter taste receptor and attainment of exceptional longevity.
Melis M et al.·Sci Rep
2019
TAS2R38 bitter taste perception in the Koṅkaṇī Sārasvata Brahmin population.
Sequeira JJ et al.·Genes Genomics
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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