TAS2R16

taste 2 receptor member 16, the group of Taste 2 receptors

Basic information

Region (hg38): 7:122994703-122995700

Links

ENSG00000128519 ∙ NCBI:50833 ∙ OMIM:604867 ∙ HGNC:14921 ∙ Uniprot:Q9NYV7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Beta-glucopyranoside tasting	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	16051168; 24177185

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS2R16 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R16 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in TAS2R16

This is a list of pathogenic ClinVar variants found in the TAS2R16 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-122994789-C-T		TAS2R16-related disorder	Benign (Nov 20, 2019)
7-122994790-G-A		not specified	Uncertain significance (Dec 17, 2023)
7-122994868-C-T		not specified	Uncertain significance (Jan 09, 2024)
7-122994902-T-A		not specified	Uncertain significance (Feb 23, 2023)
7-122994905-G-A		not specified	Uncertain significance (Feb 26, 2024)
7-122994906-T-C		not specified	Uncertain significance (Feb 05, 2024)
7-122994941-A-T		not specified	Uncertain significance (Mar 01, 2023)
7-122994970-C-T		TAS2R16-related disorder	Benign (Oct 16, 2019)
7-122995002-G-C		not specified	Uncertain significance (Dec 11, 2023)
7-122995015-A-C		not specified	Uncertain significance (Jan 04, 2022)
7-122995046-T-C		not specified	Uncertain significance (Sep 07, 2022)
7-122995119-A-C		BETA-GLUCOPYRANOSIDE TASTING • Alcohol dependence, susceptibility to	Affects; risk factor (Feb 01, 2007)
7-122995168-G-A		not specified	Uncertain significance (Mar 01, 2023)
7-122995186-A-G		not specified	Uncertain significance (Nov 19, 2022)
7-122995214-T-C		not specified	Uncertain significance (Sep 27, 2022)
7-122995294-A-G		not specified	Uncertain significance (Dec 17, 2023)
7-122995475-T-A		not specified	Uncertain significance (Nov 22, 2022)
7-122995591-A-G		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R16	protein_coding	protein_coding	ENST00000249284	1	996

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	-0.897	182	151	1.21	0.00000699	1915
Missense in Polyphen		42	37.64	1.1158		547
Synonymous	-0.220	58	55.9	1.04	0.00000258	571
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. {ECO:0000269|PubMed:12379855, ECO:0000269|PubMed:15759003}.
• 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: 0.0631

Intolerance Scores

• loftool: 0.777
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.0222
• hipred: N
• hipred_score: 0.112
• ghis: 0.388

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.102

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tas2r118

Gene ontology

• Biological process: detection of chemical stimulus involved in sensory perception of bitter taste;G protein-coupled receptor signaling pathway
• Cellular component: endoplasmic reticulum;trans-Golgi network;plasma membrane;external side of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;protein binding;bitter taste receptor activity