TAS2R4

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

Basic information

Region (hg38): 7:141776674-141781691

Links

ENSG00000127364 ∙ NCBI:50832 ∙ OMIM:604869 ∙ HGNC:14911 ∙ Uniprot:Q9NYW5 ∙ 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 TAS2R4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R4 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	1
missense			15	1	1	17
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	2

Variants in TAS2R4

This is a list of pathogenic ClinVar variants found in the TAS2R4 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-141778495-C-T		not specified	Likely benign (Aug 14, 2024)
7-141778497-G-C			Benign (Jul 02, 2018)
7-141778505-A-C			Benign (Jul 06, 2018)
7-141778505-A-G		not specified	Uncertain significance (Dec 14, 2023)
7-141778556-T-C		not specified	Uncertain significance (Jan 02, 2024)
7-141778562-T-C		not specified	Uncertain significance (Apr 19, 2023)
7-141778604-A-G		not specified	Uncertain significance (Jun 30, 2022)
7-141778687-A-G		not specified	Uncertain significance (Jun 30, 2024)
7-141778756-T-A		not specified	Uncertain significance (Jul 20, 2021)
7-141778766-C-T		not specified	Uncertain significance (Dec 18, 2023)
7-141778952-C-T		not specified	Uncertain significance (Apr 07, 2022)
7-141778985-C-T		not specified	Uncertain significance (Aug 27, 2024)
7-141779005-G-T		not specified	Uncertain significance (Sep 28, 2021)
7-141779091-C-G		not specified	Uncertain significance (Jul 16, 2024)
7-141779104-CAT-C		not specified	Uncertain significance (May 04, 2022)
7-141779153-C-T			Likely benign (Jul 06, 2018)
7-141779156-A-G		not specified	Uncertain significance (Dec 05, 2022)
7-141779174-T-C		not specified	Uncertain significance (Aug 04, 2023)
7-141779206-A-G		not specified	Uncertain significance (Jan 24, 2024)
7-141779234-A-G		not specified	Uncertain significance (Sep 12, 2023)
7-141779258-T-A		not specified	Uncertain significance (Sep 25, 2024)
7-141779273-A-C		not specified	Uncertain significance (Feb 14, 2023)
7-141779318-C-A		not specified	Uncertain significance (May 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R4	protein_coding	protein_coding	ENST00000247881	1	994

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000509	0.139	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0888	151	148	1.02	0.00000721	1939
Missense in 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

LoF frequencies by population

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

dbNSFP

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}.
• 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)

Recessive Scores

• pRec: 0.0747

Intolerance Scores

• loftool: 0.796
• rvis_EVS: 1.42
• rvis_percentile_EVS: 94.89

Haploinsufficiency Scores

• pHI: 0.0598
• hipred: N
• hipred_score: 0.146
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.105

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas2r108

Gene ontology

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