TAS2R16

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

Basic information

Region (hg38): 7:122994704-122995700

Links

ENSG00000128519NCBI:50833OMIM:604867HGNC:14921Uniprot:Q9NYV7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Beta-glucopyranoside tastingADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingNeurologic16051168; 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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
TAS2R16protein_codingprotein_codingENST00000249284 1996
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-0.8971821511.210.000006991915
Missense in Polyphen4237.641.1158547
Synonymous-0.2205855.91.040.00000258571
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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