TAS1R2

taste 1 receptor member 2, the group of Taste 1 receptors

Basic information

Region (hg38): 1:18839598-18859660

Previous symbols: [ "GPR71" ]

Links

ENSG00000179002 ∙ NCBI:80834 ∙ OMIM:606226 ∙ HGNC:14905 ∙ Uniprot:Q8TE23 ∙ 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 TAS1R2 gene.

• Inborn genetic diseases (57 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS1R2 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				2	2	4
missense			56	2	1	59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	56	4	3

Variants in TAS1R2

This is a list of pathogenic ClinVar variants found in the TAS1R2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-18839667-A-G		not specified	Uncertain significance (May 11, 2022)
1-18839751-T-A		not specified	Uncertain significance (Nov 07, 2022)
1-18839766-C-T		not specified	Uncertain significance (Apr 12, 2022)
1-18839782-G-C		not specified	Uncertain significance (Dec 16, 2022)
1-18839799-C-T		not specified	Likely benign (Dec 19, 2022)
1-18839877-T-C		not specified	Uncertain significance (Oct 25, 2022)
1-18839884-G-A			Benign (Apr 26, 2018)
1-18839945-C-T			Uncertain significance (Dec 11, 2019)
1-18839946-G-A		not specified	Uncertain significance (May 08, 2023)
1-18839985-C-T		not specified	Uncertain significance (Dec 18, 2023)
1-18840017-C-T		not specified	Uncertain significance (Oct 26, 2021)
1-18840020-G-A		not specified	Uncertain significance (Jan 04, 2022)
1-18840084-A-C		not specified	Uncertain significance (Nov 15, 2021)
1-18840086-G-T		not specified	Uncertain significance (Aug 30, 2021)
1-18840129-G-A		not specified	Uncertain significance (Nov 08, 2022)
1-18840171-C-T		not specified	Uncertain significance (Jul 06, 2021)
1-18840222-G-A		not specified	Uncertain significance (May 23, 2023)
1-18840222-G-C		not specified	Uncertain significance (Feb 10, 2023)
1-18840255-C-T		not specified	Uncertain significance (May 27, 2022)
1-18840320-C-A		not specified	Uncertain significance (Jan 10, 2023)
1-18840326-G-A		not specified	Uncertain significance (Jul 20, 2022)
1-18840348-A-T		not specified	Uncertain significance (Jan 03, 2024)
1-18840377-A-G		not specified	Uncertain significance (Jan 17, 2024)
1-18840420-T-A		not specified	Uncertain significance (Jan 08, 2024)
1-18840420-T-C		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS1R2	protein_coding	protein_coding	ENST00000375371	6	20084

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.61e-17	0.0158	125517	0	231	125748	0.000919

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.572	553	516	1.07	0.0000343	5517
Missense in Polyphen		199	189.8	1.0485		2126
Synonymous	-1.22	252	229	1.10	0.0000163	1701
Loss of Function	0.359	26	28.1	0.927	0.00000135	296

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00353	0.00353
Ashkenazi Jewish	0.00119	0.00119
East Asian	0.000435	0.000435
Finnish	0.000277	0.000277
European (Non-Finnish)	0.000555	0.000554
Middle Eastern	0.000435	0.000435
South Asian	0.000719	0.000719
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners.
• 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)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.0823
• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.13

Haploinsufficiency Scores

• pHI: 0.138
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.706

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas1r2
• 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;positive regulation of cytokinesis;sensory perception of sweet taste
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane;receptor complex;sweet taste receptor complex
• Molecular function: G protein-coupled receptor activity;taste receptor activity;sweet taste receptor activity;signaling receptor activity;protein heterodimerization activity