TAS1R3

protein-coding

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

Gene summary

The protein encoded by this gene is a G-protein coupled receptor involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [provided by RefSeq, Nov 2015]

MANE transcript

NM_152228.3

Inheritance

—

ClinVar variants

U:237B:37

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.18

Max pathogenic AF

—

Genomic locus

chr1:1,331,280-1,335,314

External References & Databases

Ensembl (ENSG00000169962)

Transcript & Mutation Effects

hg38 • Region Span ~4.0 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 TAS1R3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 257

not providedTotal: 14

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152228.3. 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			1 clinvar	9 clinvar	5 clinvar	15
missense			235 clinvar	21 clinvar	2 clinvar	258
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	237	30	7	274

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152228.3	RefSeq	NP_689414.2	6	MANE Select
ENST00000339381.6	Ensembl	ENSP00000344411.5	6	MANE Select
ENST00001144138.1	Ensembl	ENSP00000808125.1	6	Standard
XM_017002435.2	RefSeq	XP_016857924.1	5	Standard

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
sensory perception of sweet taste
sensory perception of umami 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
sweet taste receptor complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000339381
Coding exons: 6
Length: 3993
Individuals with no LoFs: 124780
Homozygous LoFs: 6
Heterozygous LoFs: 669
Defined: 125455
p: 0.00269

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.38	732	572	1.28	0.0000403	5407
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0016	notable
Latino/Admixed American	0.00088	0.00087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0017	0.0016	notable
Finnish	0.015	0.014	notable
European (Non-Finnish)	0.0011	0.00099	notable
South Asian	0.0052	0.0051	notable
Other	0.0021	0.0020	notable

dbNSFP Gene Annotations

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}.;

Intolerance Scores

RVIS EVS: -2
RVIS percentile EVS: 1.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.918

Gene Damage Prediction

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