TAS2R16

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

Basic information

Region (hg38): 7:122994704-122995700

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.

not_specified (34 variants)
Alcohol_dependence (1 variants)
BETA-GLUCOPYRANOSIDE_TASTING (1 variants)
Alcohol_dependence,_susceptibility_to (1 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. These statistics are base on transcript: NM_000016945.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			35 clinvar			35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	0	0

Loading clinvar variants...

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
Phenotype

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