TAS2R46
Basic information
Region (hg38): 12:11061365-11062294
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 28 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 28 | 6 | 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 |
---|---|---|---|---|
12-11061373-A-G | not specified | Uncertain significance (May 26, 2024) | ||
12-11061381-T-C | not specified | Uncertain significance (Mar 24, 2023) | ||
12-11061401-C-A | not specified | Uncertain significance (Dec 19, 2022) | ||
12-11061450-C-A | not specified | Uncertain significance (Jun 17, 2024) | ||
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) | ||
12-11061523-T-G | not specified | Uncertain significance (Mar 08, 2025) | ||
12-11061524-G-C | not specified | Likely benign (Mar 08, 2025) | ||
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) | ||
12-11061714-G-T | not specified | Uncertain significance (Oct 28, 2024) | ||
12-11061718-T-C | not specified | Uncertain significance (Mar 01, 2025) | ||
12-11061762-G-A | not specified | Uncertain significance (Aug 20, 2024) | ||
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) | ||
12-11062003-G-A | not specified | Uncertain significance (May 20, 2024) | ||
12-11062024-T-C | not specified | Uncertain significance (Jul 14, 2022) | ||
12-11062030-C-T | not specified | Likely benign (Dec 08, 2023) | ||
12-11062068-T-A | not specified | Uncertain significance (Jun 26, 2024) | ||
12-11062125-C-T | not specified | Uncertain significance (Nov 02, 2023) |
GnomAD
Source:
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:
- 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
- pHI
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.406
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- 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
- Phenotype
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