TAS2R5

taste 2 receptor member 5, the group of Taste 2 receptors

Basic information

Region (hg38): 7:141790217-141791367

Links

ENSG00000127366NCBI:54429OMIM:605062HGNC:14912Uniprot:Q9NYW4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS2R5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R5 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
20
clinvar
1
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 20 1 0

Variants in TAS2R5

This is a list of pathogenic ClinVar variants found in the TAS2R5 region.

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

Position Type Phenotype Significance ClinVar
7-141790411-T-G not specified Uncertain significance (Aug 17, 2021)2246465
7-141790432-A-G not specified Uncertain significance (Feb 27, 2024)3174120
7-141790480-A-C not specified Uncertain significance (Jan 08, 2024)3174117
7-141790482-T-C not specified Uncertain significance (Sep 15, 2021)2249565
7-141790516-C-T not specified Uncertain significance (Jul 19, 2023)2590056
7-141790587-C-T not specified Uncertain significance (Dec 09, 2023)3174118
7-141790609-T-C not specified Uncertain significance (Apr 04, 2024)3324494
7-141790626-A-T not specified Uncertain significance (Apr 15, 2024)3324493
7-141790632-G-A not specified Uncertain significance (Mar 02, 2023)2493644
7-141790695-C-T not specified Uncertain significance (Feb 28, 2024)3174119
7-141790696-G-A not specified Likely benign (Apr 04, 2023)2516989
7-141790755-G-A not specified Uncertain significance (Dec 03, 2021)2402619
7-141790837-G-A not specified Uncertain significance (Jun 21, 2023)2592891
7-141790957-A-C not specified Uncertain significance (Feb 27, 2023)2490107
7-141790989-A-G not specified Uncertain significance (Dec 26, 2023)2389160
7-141791041-T-G not specified Uncertain significance (Aug 12, 2021)2361211
7-141791083-C-G not specified Uncertain significance (Mar 23, 2023)2528654
7-141791094-A-G not specified Uncertain significance (Oct 26, 2022)2369165
7-141791143-T-C not specified Uncertain significance (Jun 29, 2023)2600966
7-141791152-A-T not specified Uncertain significance (Apr 22, 2022)2406620
7-141791154-C-T not specified Uncertain significance (May 31, 2023)2519528
7-141791239-C-T not specified Uncertain significance (Jan 08, 2024)3174121
7-141791254-G-C not specified Uncertain significance (Jun 09, 2022)3174122

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TAS2R5protein_codingprotein_codingENST00000247883 11150
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001150.63900000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.07911571600.9820.000008071938
Missense in Polyphen3543.1390.81132606
Synonymous1.245163.60.8020.00000323609
Loss of Function0.61056.700.7463.74e-770

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: 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.;
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
0.856
rvis_EVS
1.15
rvis_percentile_EVS
92.52

Haploinsufficiency Scores

pHI
0.141
hipred
N
hipred_score
0.112
ghis
0.403

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0212

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

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