TAS2R46

taste 2 receptor member 46, the group of Taste 2 receptors

Basic information

Region (hg38): 12:11061364-11062294

Links

ENSG00000226761 ∙ NCBI:259292 ∙ OMIM:612774 ∙ HGNC:18877 ∙ Uniprot:P59540 ∙ 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 TAS2R46 gene.

• Inborn genetic diseases (15 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R46 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				4		4
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	4	0

Variants in TAS2R46

This is a list of pathogenic ClinVar variants found in the TAS2R46 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-11061381-T-C		not specified	Uncertain significance (Mar 24, 2023)
12-11061401-C-A		not specified	Uncertain significance (Dec 19, 2022)
12-11061474-G-A		not specified	Uncertain significance (Aug 12, 2021)
12-11061481-G-T		not specified	Uncertain significance (Nov 12, 2021)
12-11061493-C-G		not specified	Uncertain significance (Dec 28, 2023)
12-11061597-G-A		not specified	Uncertain significance (Jun 16, 2023)
12-11061601-T-A		not specified	Uncertain significance (Nov 30, 2022)
12-11061648-G-A		not specified	Uncertain significance (May 06, 2022)
12-11061788-C-A		not specified	Uncertain significance (Jun 11, 2021)
12-11061796-T-G		not specified	Uncertain significance (Jun 27, 2022)
12-11061885-A-G		not specified	Uncertain significance (Sep 19, 2022)
12-11061983-T-C		not specified	Uncertain significance (Jan 27, 2022)
12-11061994-T-C		not specified	Uncertain significance (Aug 30, 2021)
12-11062024-T-C		not specified	Uncertain significance (Jul 14, 2022)
12-11062030-C-T		not specified	Likely benign (Dec 08, 2023)
12-11062125-C-T		not specified	Uncertain significance (Nov 02, 2023)
12-11062157-T-G		not specified	Uncertain significance (Oct 10, 2023)
12-11062196-A-G			Likely benign (Aug 01, 2023)
12-11062209-A-G		not specified	Uncertain significance (Dec 20, 2021)
12-11062210-A-T		not specified	Uncertain significance (Jan 17, 2024)
12-11062211-T-C			Likely benign (Aug 01, 2023)
12-11062225-T-G		not specified	Uncertain significance (Jul 06, 2021)
12-11062241-C-A			Likely benign (Aug 01, 2023)
12-11062271-A-T			Likely benign (Aug 01, 2023)
12-11062283-A-C		not specified	Likely benign (Feb 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R46	protein_coding	protein_coding	ENST00000533467	1	930

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	-0.964	180	147	1.22	0.00000648	2010
Missense in Polyphen		29	26.574	1.0913		441
Synonymous	-2.26	75	53.9	1.39	0.00000243	601
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: Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (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: 0.845
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.44

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas2r120

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