TAS2R38

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

Basic information

Region (hg38): 7:141972630-141973773

Previous symbols: [ "PTC" ]

Links

ENSG00000257138 ∙ NCBI:5726 ∙ OMIM:607751 ∙ HGNC:9584 ∙ Uniprot:P59533 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Thiourea tasting; Phenylthiocarbamide tasting	AD	General	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)	Neurologic	17830260; 12595690; 16086309; 17250611; 18524836; 22130969

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS2R38 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R38 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	21	2	1

Variants in TAS2R38

This is a list of pathogenic ClinVar variants found in the TAS2R38 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-141972701-C-G		not specified	Uncertain significance (Nov 08, 2022)
7-141972704-G-C		not specified	Uncertain significance (Aug 14, 2023)
7-141972730-C-A		not specified	Uncertain significance (Apr 07, 2022)
7-141972745-A-G			Likely benign (Nov 01, 2023)
7-141972804-T-C		Phenylthiocarbamide tasting	drug response (May 12, 2011)
7-141972854-A-T		not specified	Uncertain significance (May 03, 2023)
7-141972905-G-G		Phenylthiocarbamide tasting	Benign (Aug 23, 2018)
7-141972963-T-C		not specified	Uncertain significance (Dec 27, 2023)
7-141972986-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-141972990-A-C		not specified	Uncertain significance (Jun 13, 2024)
7-141973021-G-T		not specified	Uncertain significance (Aug 17, 2022)
7-141973041-T-G		not specified	Uncertain significance (May 18, 2023)
7-141973045-C-T		not specified	Uncertain significance (Jul 13, 2022)
7-141973131-T-C		not specified	Uncertain significance (Feb 06, 2024)
7-141973146-G-A		not specified	Likely benign (Jan 10, 2023)
7-141973160-T-C		not specified	Uncertain significance (Jan 04, 2022)
7-141973198-G-T		not specified	Uncertain significance (Dec 15, 2022)
7-141973221-G-A		not specified	Uncertain significance (Dec 28, 2023)
7-141973223-A-G		not specified	Uncertain significance (Mar 13, 2023)
7-141973232-A-T		not specified	Uncertain significance (Mar 29, 2022)
7-141973236-A-C		not specified	Uncertain significance (Dec 17, 2023)
7-141973273-C-G		not specified	Uncertain significance (May 24, 2023)
7-141973353-G-A		not specified	Uncertain significance (May 08, 2024)
7-141973399-C-T		not specified	Uncertain significance (Mar 07, 2023)
7-141973469-C-G		not specified	Uncertain significance (Aug 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R38	protein_coding	protein_coding	ENST00000547270	1	1143

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.130	0.788	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.735	150	178	0.845	0.00000888	2188
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: Taste transduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Class C/3 (Metabotropic glutamate/pheromone receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.539
• rvis_EVS: 1.2
• rvis_percentile_EVS: 92.92

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0280

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas2r138

Gene ontology

• Biological process: detection of chemical stimulus involved in sensory perception of bitter taste;G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;bitter taste receptor activity