TAS1R3

taste 1 receptor member 3, the group of Taste 1 receptors

Basic information

Region (hg38): 1:1331279-1335314

Links

ENSG00000169962 ∙ NCBI:83756 ∙ OMIM:605865 ∙ HGNC:15661 ∙ Uniprot:Q7RTX0 ∙ 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 TAS1R3 gene.

• Inborn genetic diseases (82 variants)
• not provided (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS1R3 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				5	5	10
missense			75	8	2	85
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	75	13	7

Variants in TAS1R3

This is a list of pathogenic ClinVar variants found in the TAS1R3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-1331403-G-A		not specified	Uncertain significance (Jan 03, 2024)
1-1331442-G-C		not specified	Uncertain significance (Dec 21, 2022)
1-1331466-T-A		not specified	Uncertain significance (Dec 21, 2022)
1-1331483-C-T			Benign (Feb 25, 2018)
1-1331500-G-A		not specified	Uncertain significance (Jul 05, 2023)
1-1331506-G-A		not specified	Uncertain significance (Apr 22, 2022)
1-1331684-G-A		not specified	Uncertain significance (Apr 25, 2023)
1-1331701-C-G		not specified	Uncertain significance (Nov 06, 2023)
1-1331706-C-T		not specified	Uncertain significance (Jun 07, 2023)
1-1331708-G-A		not specified	Uncertain significance (Jul 31, 2023)
1-1331730-T-C		not specified	Uncertain significance (Feb 15, 2023)
1-1331741-C-T		not specified	Uncertain significance (Jun 29, 2023)
1-1331787-T-C		not specified	Uncertain significance (Oct 27, 2021)
1-1331798-G-A		not specified	Uncertain significance (Dec 21, 2023)
1-1331819-A-G		not specified	Uncertain significance (Jul 14, 2022)
1-1331825-G-A		not specified	Uncertain significance (Feb 03, 2022)
1-1331841-C-T		not specified	Uncertain significance (Nov 09, 2021)
1-1331890-G-C		not specified	Uncertain significance (Feb 21, 2024)
1-1331900-G-A		not specified	Likely benign (Dec 06, 2022)
1-1331901-T-C		not specified	Uncertain significance (Apr 28, 2022)
1-1332039-A-T		not specified	Uncertain significance (Oct 17, 2023)
1-1332057-G-A		not specified	Uncertain significance (Nov 09, 2021)
1-1332060-C-T		not specified	Uncertain significance (Mar 01, 2023)
1-1332061-G-A		not specified	Uncertain significance (Apr 22, 2022)
1-1332115-C-T		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS1R3	protein_coding	protein_coding	ENST00000339381	6	3993

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.79e-25	0.0000543	124780	6	669	125455	0.00269

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.38	732	572	1.28	0.0000403	5407
Missense in Polyphen		245	197.01	1.2436		2114
Synonymous	-5.24	387	276	1.40	0.0000216	1847
Loss of Function	-0.873	34	28.9	1.18	0.00000142	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00261	0.00249
Ashkenazi Jewish	0.00	0.00
East Asian	0.00167	0.00163
Finnish	0.0151	0.0144
European (Non-Finnish)	0.00106	0.000989
Middle Eastern	0.00167	0.00163
South Asian	0.00519	0.00508
Other	0.00208	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. {ECO:0000250, ECO:0000269|PubMed:11917125, ECO:0000269|PubMed:12892531}.
• Pathway: Carbohydrate digestion and absorption - Homo sapiens (human);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)

Intolerance Scores

• rvis_EVS: -2
• rvis_percentile_EVS: 1.74

Haploinsufficiency Scores

• pHI: 0.167
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.918

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas1r3
• Phenotype: taste/olfaction phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

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