TAS2R4

protein-coding

taste 2 receptor member 4, the group of Taste 2 receptors

Gene summary

This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]

MANE transcript

NM_016944.2

Inheritance

—

ClinVar variants

U:38B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.37

Max pathogenic AF

—

Genomic locus

chr7:141,776,674-141,781,691

External References & Databases

Ensembl (ENSG00000127364)

Transcript & Mutation Effects

hg38 • Region Span ~5.0 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 TAS2R4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 45

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016944.2. 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				2 clinvar	1 clinvar	3
missense			37 clinvar	7 clinvar	1 clinvar	45
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	9	2	49

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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_016944.2	RefSeq	NP_058640.1	1	MANE Select
ENST00000247881.4	Ensembl	ENSP00000247881.3	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Taste transduction - Homo sapiens (human)
Signaling by GPCR
Signal Transduction
Class C/3 (Metabotropic glutamate/pheromone receptors)
GPCR ligand binding

Biological Process

detection of chemical stimulus involved in sensory perception of bitter taste
G protein-coupled receptor signaling pathway
respiratory gaseous exchange

Molecular Function

G protein-coupled receptor activity
taste receptor activity
bitter taste receptor activity

Cellular Component

plasma membrane
integral component of membrane
ciliary membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000247881
Coding exons: 1
Length: 994
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0888	151	148	1.02	0.00000721	1939
Missense (PolyPhen)		34	32.198	1.056		494
Synonymous	-0.180	64	62.2	1.03	0.00000324	632
Loss of Function	-0.777	7	5.11	1.37	2.19e-7	81

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Gustducin-coupled receptor for denatonium and N(6)- propyl-2-thiouracil 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. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. {ECO:0000269|PubMed:19628819}.;

Recessive Scores

pRec: 0.0747

Intolerance Scores

LoFtool: 0.796
RVIS EVS: 1.42
RVIS percentile EVS: 94.89

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.105

Gene Damage Prediction

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