TAS2R38

protein-coding

taste 2 receptor member 38, the group of Taste 2 receptors

Gene 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]

Previous symbols:

MANE transcript

NM_176817.5

Inheritance

ClinVar variants

U:54B:4

Top phenotype

Thiourea tasting; Phenylthiocarbamide tasting

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr7:141,972,631-141,973,773

External References & Databases

Ensembl (ENSG00000257138)

Transcript & Mutation Effects

hg38 • Region Span ~1.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

thiourea tastingLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0044248

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Thiourea tasting; Phenylthiocarbamide tastingAD

Manifestation: Neurologic

Intervention: General

Rationale: In Thiourea tasting; Phenylthiocarbamide tasting, the clinical applicability is unclear, though it has been suggested that variants may have health-related manifestations (eg, involving nicotine and alcohol use)

Refs: 17830260; 12595690; 16086309; 17250611; 18524836; 22130969

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TAS2R38 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 57

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_176817.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			54 clinvar	3 clinvar		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	4	0	58

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_176817.5	RefSeq	NP_789787.5	1	MANE Select
ENST00000547270.1	Ensembl	ENSP00000448219.1	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Taste transduction - Homo sapiens (human)
Signaling by GPCR
Signal Transduction
Class C/3 (Metabotropic glutamate/pheromone receptors)
GPCR ligand binding

Biological Process

detection of chemical stimulus involved in sensory perception of bitter taste
G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor activity
bitter taste receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000547270
Coding exons: 1
Length: 1143
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.735	150	178	0.845	0.00000888	2188
Missense (PolyPhen)		33	50.065	0.65915		680
Synonymous	0.723	63	70.7	0.891	0.00000328	697
Loss of Function	1.40	2	5.56	0.360	2.37e-7	66

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.539
RVIS EVS: 1.2
RVIS percentile EVS: 92.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0280

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium