TAS2R7

taste 2 receptor member 7, the group of Taste 2 receptors

Basic information

Region (hg38): 12:10801532-10802627

Links

ENSG00000121377 ∙ NCBI:50837 ∙ OMIM:604793 ∙ HGNC:14913 ∙ Uniprot:Q9NYW3 ∙ 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 TAS2R7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R7 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						0
missense			15	2		17
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	1

Variants in TAS2R7

This is a list of pathogenic ClinVar variants found in the TAS2R7 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-10801647-T-G		not specified	Uncertain significance (Dec 19, 2023)
12-10801703-T-G		not specified	Uncertain significance (Jun 18, 2024)
12-10801791-C-A		not specified	Likely benign (Jan 26, 2022)
12-10801813-A-G		not specified	Uncertain significance (Sep 13, 2023)
12-10801891-G-A		not specified	Uncertain significance (Nov 18, 2022)
12-10801901-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-10801931-G-A			Benign (Aug 15, 2018)
12-10801946-G-A		not specified	Likely benign (May 26, 2023)
12-10801963-A-G		not specified	Uncertain significance (May 09, 2022)
12-10801972-G-T		not specified	Uncertain significance (Apr 28, 2023)
12-10802067-T-G		not specified	Uncertain significance (Feb 06, 2023)
12-10802080-C-T		not specified	Uncertain significance (Feb 11, 2022)
12-10802093-C-T		not specified	Uncertain significance (Mar 31, 2024)
12-10802112-G-T		not specified	Uncertain significance (Apr 15, 2024)
12-10802136-G-T		not specified	Uncertain significance (Jun 22, 2024)
12-10802162-A-T		not specified	Uncertain significance (Feb 27, 2024)
12-10802164-C-T		not specified	Uncertain significance (May 24, 2024)
12-10802170-A-T		not specified	Uncertain significance (Oct 06, 2022)
12-10802269-G-A		not specified	Uncertain significance (Aug 26, 2022)
12-10802309-A-G		not specified	Uncertain significance (Dec 06, 2022)
12-10802325-C-A		not specified	Uncertain significance (Feb 07, 2023)
12-10802472-C-T		not specified	Uncertain significance (Nov 05, 2021)
12-10802552-T-G		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R7	protein_coding	protein_coding	ENST00000240687	1	1096

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0321	0.828	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.06	200	162	1.23	0.00000745	2086
Missense in Polyphen		62	50.886	1.2184		750
Synonymous	-1.08	75	64.0	1.17	0.00000315	632
Loss of Function	1.16	3	6.08	0.493	2.54e-7	86

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 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.
• 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: 0.0842

Intolerance Scores

• loftool: 0.691
• rvis_EVS: 1.2
• rvis_percentile_EVS: 92.92

Haploinsufficiency Scores

• pHI: 0.0530
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0250

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas2r130

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
• Molecular function: G protein-coupled receptor activity;taste receptor activity;bitter taste receptor activity