TAS2R13

taste 2 receptor member 13, the group of Taste 2 receptors

Basic information

Region (hg38): 12:10907926-10909562

Links

ENSG00000212128 ∙ NCBI:50838 ∙ OMIM:604792 ∙ HGNC:14919 ∙ Uniprot:Q9NYV9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS2R13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R13 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					1	1
missense			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	1

Variants in TAS2R13

This is a list of pathogenic ClinVar variants found in the TAS2R13 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-10908443-C-T		not specified	Uncertain significance (Oct 08, 2024)
12-10908460-A-G		not specified	Uncertain significance (Jan 20, 2023)
12-10908491-C-T		not specified	Uncertain significance (May 30, 2024)
12-10908509-T-C		not specified	Uncertain significance (Sep 02, 2024)
12-10908515-T-C		not specified	Uncertain significance (Mar 23, 2022)
12-10908604-T-C		not specified	Uncertain significance (Jun 28, 2024)
12-10908631-C-G		not specified	Uncertain significance (Aug 28, 2024)
12-10908634-G-A		not specified	Uncertain significance (Aug 01, 2022)
12-10908713-T-C		not specified	Uncertain significance (Aug 17, 2022)
12-10908731-G-C		not specified	Uncertain significance (Nov 08, 2021)
12-10908755-T-C		not specified	Uncertain significance (Jan 29, 2024)
12-10908783-A-C		not specified	Likely benign (Feb 13, 2023)
12-10908812-T-A		not specified	Uncertain significance (Nov 28, 2023)
12-10908823-T-C		not specified	Likely benign (Jun 23, 2021)
12-10908834-C-A		not specified	Uncertain significance (Sep 24, 2024)
12-10908847-T-C		not specified	Uncertain significance (Dec 22, 2023)
12-10908889-G-T		not specified	Uncertain significance (Mar 14, 2023)
12-10908908-G-A			Benign (Dec 31, 2019)
12-10908964-G-A		not specified	Uncertain significance (May 16, 2024)
12-10908973-A-T		not specified	Uncertain significance (Oct 29, 2021)
12-10909037-T-C		not specified	Uncertain significance (Sep 03, 2024)
12-10909049-T-C		not specified	Uncertain significance (Mar 07, 2024)
12-10909060-G-A		not specified	Uncertain significance (Nov 13, 2023)
12-10909113-T-C		not specified	Uncertain significance (Apr 17, 2023)
12-10909123-A-G		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS2R13	protein_coding	protein_coding	ENST00000390677	1	1637

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	-1.04	190	154	1.24	0.00000715	1995
Missense in Polyphen		36	32.505	1.1075		511
Synonymous	0.630	52	58.1	0.895	0.00000295	590
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: 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)

Recessive Scores

• pRec: 0.0443

Intolerance Scores

• loftool: 0.484
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.0110
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00289

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tas2r121

Gene ontology

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