TAS2R38 taste 2 receptor member 38 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAS2R38provided by HGNC
Official Full Name: taste 2 receptor member 38provided by HGNC
Primary source: HGNC:HGNC:9584
See related: Ensembl:ENSG00000257138 MIM:607751; AllianceGenome:HGNC:9584
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTC; T2R38; T2R61; THIOT
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (141972631..141973773, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (143288364..143289506, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (141672431..141673573, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA.
Title: Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA.
Genetic variation in TAS2R38 bitterness receptor is associated with body composition in Korean females.
Title: Genetic variation in TAS2R38 bitterness receptor is associated with body composition in Korean females.
TAS2R38 haplotypes, COVID-19 infection, and symptomatology: a cross-sectional analysis of data from the Canadian Longitudinal Study on Aging.
Title: TAS2R38 haplotypes, COVID-19 infection, and symptomatology: a cross-sectional analysis of data from the Canadian Longitudinal Study on Aging.
An Investigation of TAS2R38 Haplotypes, Dietary Intake, and Risk Factors for Chronic Disease in the Canadian Longitudinal Study on Aging.
Title: An Investigation of TAS2R38 Haplotypes, Dietary Intake, and Risk Factors for Chronic Disease in the Canadian Longitudinal Study on Aging.
Analysis of Genetic Polymorphism of Bitter Taste Receptor TAS2R38 and TAS2R46, and Its Relationship with Eating and Drinking Habits in Japanese ToMMo Subjects.
Title: Analysis of Genetic Polymorphism of Bitter Taste Receptor TAS2R38 and TAS2R46, and Its Relationship with Eating and Drinking Habits in Japanese ToMMo Subjects.
Functional Alteration and Differential Expression of the Bitter Taste Receptor T2R38 in Human Paranasal Sinus in Patients with Chronic Rhinosinusitis.
Title: Functional Alteration and Differential Expression of the Bitter Taste Receptor T2R38 in Human Paranasal Sinus in Patients with Chronic Rhinosinusitis.
A Distinctive Pattern of Diversity for the TAS2R38 Gene in North Africa.
Title: A Distinctive Pattern of Diversity for the TAS2R38 Gene in North Africa.
Influence of the TAS2R38 Gene Single Nucleotide Polymorphisms in Metabolism and Anthropometry in Thyroid Dysfunction.
Title: Influence of the TAS2R38 Gene Single Nucleotide Polymorphisms in Metabolism and Anthropometry in Thyroid Dysfunction.
Association between Genetic Variation in the TAS2R38 Bitter Taste Receptor and Propylthiouracil Bitter Taste Thresholds among Adults Living in Japan Using the Modified 2AFC Procedure with the Quest Method.
Title: Association between Genetic Variation in the TAS2R38 Bitter Taste Receptor and Propylthiouracil Bitter Taste Thresholds among Adults Living in Japan Using the Modified 2AFC Procedure with the Quest Method.
Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia.
Title: Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia.

Submit: New GeneRIF Correction See all GeneRIFs (122)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Thiourea tasting MedGen: C1868397 OMIM: 171200 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics. EBI GWAS Catalog EBI GWAS CatalogPubMed
The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G63092 (e-PCR)
- UniSTS:140067

NoName (e-PCR)
- UniSTS:490162

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables bitter taste receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables bitter taste receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: taste receptor type 2 member 38

Names: PTC bitter taste receptor; taste receptor type 2 member 61; taste receptor, type 2, member 38

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016141.2 RefSeqGene

Range

5000..6142

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_176817.5 → NP_789787.5 taste receptor type 2 member 38

Status: REVIEWED

Source sequence(s)

AC073647

Consensus CDS

CCDS34765.1

UniProtKB/Swiss-Prot

A4D1U6, P59533, P59552, Q2M3E8, Q645W3, Q86UK3

UniProtKB/TrEMBL

I0CKB5, Q86UK4

Related

ENSP00000448219.1, ENST00000547270.1

Conserved Domains (1) summary

cd15025
Location:16 → 309

7tm_TAS2R38; mammalian taste receptor 2, subtype 38, member of the seven-transmembrane G protein-coupled receptor superfamily