TAS2R43

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

Basic information

Region (hg38): 12:11091286-11092313

Links

ENSG00000255374 ∙ NCBI:259289 ∙ OMIM:612668 ∙ HGNC:18875 ∙ Uniprot:P59537 ∙ 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 TAS2R43 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R43 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				1	6	7
missense			11	5	2	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	6	8

Variants in TAS2R43

This is a list of pathogenic ClinVar variants found in the TAS2R43 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-11091387-C-A		not specified	Uncertain significance (Nov 12, 2021)
12-11091489-T-C		not specified	Uncertain significance (Apr 23, 2024)
12-11091567-G-C			Likely benign (Jul 25, 2017)
12-11091609-C-A		not specified	Uncertain significance (Apr 09, 2024)
12-11091689-T-C		not specified	Uncertain significance (Mar 06, 2023)
12-11091699-C-T		not specified	Uncertain significance (Sep 16, 2021)
12-11091727-A-C		not specified	Uncertain significance (Jan 16, 2024)
12-11091769-C-T		not specified	Likely benign (Oct 12, 2021)
12-11091809-C-T		not specified	Uncertain significance (Nov 22, 2023)
12-11091839-C-T			Likely benign (Nov 01, 2022)
12-11091858-T-G		not specified	Uncertain significance (Apr 20, 2024)
12-11091902-T-C		not specified	Uncertain significance (Apr 22, 2022)
12-11091997-A-G		not specified	Uncertain significance (Mar 08, 2024)
12-11092003-T-C			Likely benign (Jul 25, 2017)
12-11092034-A-T		not specified	Uncertain significance (Jan 31, 2024)
12-11092043-A-C		not specified	Uncertain significance (Jul 20, 2021)
12-11092111-T-C		not specified	Uncertain significance (Jul 09, 2021)
12-11092122-G-C			Benign (Jul 25, 2017)
12-11092124-A-C			Benign (Jul 25, 2017)
12-11092131-A-G			Benign (Jul 25, 2017)
12-11092132-A-G			Likely benign (Jul 25, 2017)
12-11092145-G-A			Benign (Jul 25, 2017)
12-11092146-T-C			Benign (Jul 25, 2017)
12-11092174-A-G		not specified	Uncertain significance (Sep 22, 2023)
12-11092194-C-T			Benign (Jul 25, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R43	protein_coding	protein_coding	ENST00000531678	1	1027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

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}.
• Pathway: 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)

Intolerance Scores

• loftool: 0.978
• rvis_EVS: 2.64
• rvis_percentile_EVS: 98.81

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0674

Gene Damage Prediction

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

Gene ontology

• Biological process: detection of chemical stimulus involved in sensory perception of bitter taste;G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane;motile cilium;ciliary membrane
• Molecular function: G protein-coupled receptor activity;taste receptor activity;bitter taste receptor activity