TAS2R43

protein-coding

taste 2 receptor member 43, the group of Taste 2 receptors

Gene summary

TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]

MANE transcript

NM_176884.2

Inheritance

—

ClinVar variants

U:41B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr12:11,091,287-11,092,313

External References & Databases

Ensembl (ENSG00000255374)

Transcript & Mutation Effects

hg38 • Region Span ~1.0 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 TAS2R43 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_176884.2. 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				1 clinvar		1
missense			41 clinvar	4 clinvar		45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	5	0	46

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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_176884.2	RefSeq	NP_795365.2	1	MANE Select
ENST00000531678.1	Ensembl	ENSP00000431719.1	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

Molecular Function

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

Cellular Component

plasma membrane
integral component of membrane
motile cilium
ciliary membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000531678
Coding exons: 1
Length: 1027

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.853	172	143	1.20	0.00000616	1964
Missense (PolyPhen)		28	24.483	1.1437		396
Synonymous	-0.363	54	50.7	1.06	0.00000226	566
Loss of Function

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 immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity). {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.978
RVIS EVS: 2.64
RVIS percentile EVS: 98.81

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.0674

Gene Damage Prediction

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