TAS2R3

taste 2 receptor member 3, the group of Taste 2 receptors

Basic information

Region (hg38): 7:141764096-141765197

Links

ENSG00000127362 ∙ NCBI:50831 ∙ OMIM:604868 ∙ HGNC:14910 ∙ Uniprot:Q9NYW6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS2R3 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R3 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						0
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in TAS2R3

This is a list of pathogenic ClinVar variants found in the TAS2R3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-141764174-G-A		not specified	Uncertain significance (May 11, 2022)
7-141764176-G-T		not specified	Uncertain significance (Mar 06, 2023)
7-141764238-T-C		not specified	Uncertain significance (Jun 11, 2021)
7-141764279-A-G		not specified	Uncertain significance (Jan 30, 2024)
7-141764296-C-A		not specified	Uncertain significance (Mar 01, 2024)
7-141764313-C-A		not specified	Uncertain significance (Oct 12, 2021)
7-141764313-C-T		not specified	Uncertain significance (Sep 13, 2023)
7-141764504-C-G		not specified	Uncertain significance (Jan 17, 2024)
7-141764516-C-T		not specified	Uncertain significance (Oct 04, 2022)
7-141764520-G-C		not specified	Uncertain significance (Sep 16, 2021)
7-141764598-C-A		not specified	Uncertain significance (Dec 09, 2023)
7-141764737-A-T		not specified	Uncertain significance (Dec 05, 2022)
7-141764757-A-G		not specified	Uncertain significance (Jun 16, 2023)
7-141764792-C-G		not specified	Uncertain significance (Nov 14, 2023)
7-141764793-G-A		not specified	Uncertain significance (Dec 01, 2022)
7-141764903-G-T		not specified	Likely benign (Oct 26, 2022)
7-141765005-A-G		not specified	Uncertain significance (Nov 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R3	protein_coding	protein_coding	ENST00000247879	1	1101

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000466	0.447	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.421	176	161	1.09	0.00000767	2073
Missense in Polyphen		42	37.32	1.1254		592
Synonymous	-1.91	83	63.6	1.30	0.00000303	657
Loss of Function	0.0976	5	5.24	0.954	2.25e-7	71

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: Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. {ECO:0000269|PubMed:10761934, ECO:0000269|PubMed:10761935}.
• 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: 0.0776

Intolerance Scores

• loftool: 0.795
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.0562
• 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: 0.185

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas2r137

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;taste receptor activity;bitter taste receptor activity