TAS2R4

taste 2 receptor member 4, the group of Taste 2 receptors

Basic information

Region (hg38): 7:141776674-141781691

Links

ENSG00000127364NCBI:50832OMIM:604869HGNC:14911Uniprot:Q9NYW5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS2R4 gene.

  • not_specified (38 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016944.2. 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
1
clinvar
1
clinvar
2
missense
31
clinvar
5
clinvar
1
clinvar
37
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 32 6 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TAS2R4protein_codingprotein_codingENST00000247881 1994
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000005090.13900000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.08881511481.020.000007211939
Missense in Polyphen3432.1981.056494
Synonymous-0.1806462.21.030.00000324632
Loss of Function-0.77775.111.372.19e-781

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Gustducin-coupled receptor for denatonium and N(6)- propyl-2-thiouracil 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. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. {ECO:0000269|PubMed:19628819}.;
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
0.0747

Intolerance Scores

loftool
0.796
rvis_EVS
1.42
rvis_percentile_EVS
94.89

Haploinsufficiency Scores

pHI
0.0598
hipred
N
hipred_score
0.146
ghis
0.405

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.105

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tas2r108
Phenotype

Gene ontology

Biological process
detection of chemical stimulus involved in sensory perception of bitter taste;G protein-coupled receptor signaling pathway;respiratory gaseous exchange
Cellular component
plasma membrane;integral component of membrane;ciliary membrane
Molecular function
G protein-coupled receptor activity;taste receptor activity;bitter taste receptor activity