TAS2R38
Taste 2 Receptor Member 38
Gene Information Card
| Symbol | TAS2R38 |
|---|---|
| Full Name | Taste 2 Receptor Member 38 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 5726 ncbi.nlm.nih.gov/gene/5726 |
| Ensembl ID | ENSG00000129988 |
| UniProt ID | P59533 |
| OMIM ID | 607751 |
| HGNC ID | 9584 |
| Aliases | T2R38, PTC, TAS2R61 |
Description
TAS2R38 encodes a G protein-coupled receptor (GPCR) of the TAS2R family, expressed in taste receptor cells of the tongue. It mediates bitter taste perception of compounds containing the N-C=S group, such as phenylthiocarbamide (PTC) and propylthiouracil (PROP). Common polymorphisms (rs713598, rs1726866, rs10246939) define three major haplotypes (PAV, AVI, AAV) that determine taster status.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bitter taste perception (non-pathological variation) | Haplotype-dependent receptor sensitivity to bitter compounds | Association studies (OMIM 607751) |
| Dietary behavior and nutritional intake | Influences food preferences and avoidance of bitter vegetables | Epidemiological studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tongue (taste papillae) | — | High |
| Esophagus | — | Low |
| Nasal epithelium | — | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Taste bud cells (type II) | — | High expression |
| HEK293 (heterologous expression) | — | Functional assay model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs713598 (c.145C>G, p.Pro49Ala) | SNP | ~50% (global) | Alters receptor activity; PAV haplotype associated with high sensitivity |
| rs1726866 (c.785C>T, p.Ala262Val) | SNP | ~50% (global) | Modulates receptor function |
| rs10246939 (c.886A>G, p.Ile296Val) | SNP | ~50% (global) | Part of haplotype determining taster status |
Mutation functional classification
Loss of Function (LOF)
AVI haplotype (Ala49-Val262-Val296) results in reduced or absent response to PTC/PROP.
Gain of Function (GOF)
PAV haplotype (Pro49-Ala262-Ile296) confers high sensitivity to bitter compounds.
Dominant Negative (DN)
Not reported for TAS2R38.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • bitter taste receptor activity (GO:0033038) |
| • taste transduction (GO:0050913) | • plasma membrane (GO:0005886) |
Pathways
• Taste transduction (KEGG hsa04742)
• GPCR downstream signaling (cAMP/PLC)
Protein Summary
TAS2R38 is a 333-amino acid GPCR with seven transmembrane domains. It couples to gustducin (GNAT3) and activates PLCβ2, leading to IP3-mediated calcium release and neurotransmitter release. The receptor specifically recognizes bitter compounds with a thiourea moiety. Polymorphisms in the coding region produce haplotypes that explain the well-known bimodal distribution of PTC tasting ability in human populations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAS2R38 Knockout HEK293 Cell Line | EDJ-KQ5585 | Human | 5726 | Details Get a Quote |
| TAS2R38 Knockout HeLa Cell Line | EDJ-KQ54252 | Human | 5726 | Details Get a Quote |
| TAS2R38 Knockout A-549 Cell Line | EDJ-KQ62743 | Human | 5726 | Details Get a Quote |
| TAS2R38 Knockout HCT 116 Cell Line | EDJ-KQ71213 | Human | 5726 | Details Get a Quote |
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