TAS1R2

protein-coding

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

Gene summary

Contributes to sweet taste receptor activity. Involved in detection of chemical stimulus involved in sensory perception of sweet taste and positive regulation of cytokinesis. Part of sweet taste receptor complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

GPR71

MANE transcript

NM_152232.6

Inheritance

—

ClinVar variants

U:166B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.93

Max pathogenic AF

—

Genomic locus

chr1:18,839,599-18,859,660

External References & Databases

Ensembl (ENSG00000179002)

Transcript & Mutation Effects

hg38 • Region Span ~20.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TAS1R2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 172

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152232.6. 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				3 clinvar	2 clinvar	5
missense			166 clinvar	7 clinvar	1 clinvar	174
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	166	10	3	179

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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_152232.6	RefSeq	NP_689418.2	6	MANE Select
ENST00000375371.4	Ensembl	ENSP00000364520.3	6	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Carbohydrate digestion and absorption - Homo sapiens (human)
Taste transduction - Homo sapiens (human)
Signaling by GPCR
Signal Transduction
Class C/3 (Metabotropic glutamate/pheromone receptors)

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

Molecular Function

G protein-coupled receptor activity
taste receptor activity
sweet taste receptor activity
signaling receptor activity
protein heterodimerization activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane
receptor complex
sweet taste receptor complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375371
Coding exons: 6
Length: 20084
Individuals with no LoFs: 125517
Homozygous LoFs: 0
Heterozygous LoFs: 231
Defined: 125748
p: 0.000919

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.572	553	516	1.07	0.0000343	5517
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.0031	0.0031	notable
Ashkenazi Jewish	0.0012	0.0012	notable
East Asian	0.00044	0.00044	rare
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00055	0.00055	rare
South Asian	0.00072	0.00072	rare
Other	0.00098	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.0823
RVIS EVS: 1.04
RVIS percentile EVS: 91.13

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.706

Gene Damage Prediction

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