TAS2R9

taste 2 receptor member 9, the group of Taste 2 receptors

Basic information

Region (hg38): 12:10809093-10810168

Links

ENSG00000121381 ∙ NCBI:50835 ∙ OMIM:604795 ∙ HGNC:14917 ∙ Uniprot:Q9NYW1 ∙ 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 TAS2R9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R9 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			18	3	3	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	3

Variants in TAS2R9

This is a list of pathogenic ClinVar variants found in the TAS2R9 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-10809142-G-A		not specified	Uncertain significance (Dec 20, 2023)
12-10809196-G-T		not specified	Uncertain significance (Apr 26, 2023)
12-10809212-C-G		not specified	Uncertain significance (Mar 04, 2024)
12-10809231-A-T		not specified	Uncertain significance (Jul 12, 2023)
12-10809313-C-T		not specified	Likely benign (Jun 02, 2023)
12-10809408-C-A		not specified	Uncertain significance (Dec 03, 2021)
12-10809423-C-T			Benign (Jul 06, 2018)
12-10809429-G-A		not specified	Uncertain significance (Jun 11, 2021)
12-10809496-A-T		not specified	Likely benign (Dec 28, 2022)
12-10809511-C-A		not specified	Uncertain significance (Jan 23, 2024)
12-10809519-C-T		not specified	Uncertain significance (Oct 22, 2021)
12-10809532-T-A		not specified	Uncertain significance (May 13, 2024)
12-10809579-G-A		not specified	Uncertain significance (May 17, 2023)
12-10809619-A-G		not specified	Uncertain significance (Aug 30, 2021)
12-10809626-A-T			Benign (Aug 03, 2017)
12-10809628-C-T		not specified	Likely benign (Nov 17, 2023)
12-10809634-T-C		not specified	Uncertain significance (Oct 05, 2022)
12-10809657-A-G		not specified	Uncertain significance (Oct 29, 2021)
12-10809697-T-G		not specified	Uncertain significance (Dec 12, 2023)
12-10809727-G-T		not specified	Uncertain significance (Apr 12, 2022)
12-10809772-A-G		not specified	Uncertain significance (Mar 07, 2023)
12-10809822-A-T		not specified	Uncertain significance (Jun 13, 2024)
12-10809875-G-T			Benign (Aug 03, 2017)
12-10809897-C-T		not specified	Uncertain significance (Aug 14, 2023)
12-10810030-C-T		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R9	protein_coding	protein_coding	ENST00000240691	1	1075

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	-0.812	190	161	1.18	0.00000734	2058
Missense in Polyphen		55	41.214	1.3345		559
Synonymous	-0.994	72	62.0	1.16	0.00000306	625
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 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 (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)

Recessive Scores

• pRec: 0.0677

Intolerance Scores

• loftool: 0.827
• rvis_EVS: 1.13
• rvis_percentile_EVS: 92.23

Haploinsufficiency Scores

• pHI: 0.0160
• 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: 0.0510

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;biological_process
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;taste receptor activity;bitter taste receptor activity