TAAR5

trace amine associated receptor 5, the group of Trace amine receptors

Basic information

Region (hg38): 6:132588591-132589741

Links

ENSG00000135569 ∙ NCBI:9038 ∙ OMIM:607405 ∙ HGNC:30236 ∙ Uniprot:O14804 ∙ 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 TAAR5 gene.

• Inborn genetic diseases (19 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAAR5 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				2	2	4
missense			18	3	2	23
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	5	4

Variants in TAAR5

This is a list of pathogenic ClinVar variants found in the TAAR5 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-132588698-C-G		not specified	Likely benign (Jun 23, 2023)
6-132588699-G-A			Benign (Dec 31, 2019)
6-132588726-T-A		not specified	Uncertain significance (Sep 07, 2022)
6-132588750-G-A		not specified	Uncertain significance (Feb 16, 2023)
6-132588800-A-T		not specified	Uncertain significance (Jun 28, 2023)
6-132588872-G-A			Benign (Dec 31, 2019)
6-132588909-T-C		not specified	Uncertain significance (Jan 31, 2022)
6-132588911-C-A		not specified	Uncertain significance (Jul 05, 2022)
6-132588974-T-C		not specified	Uncertain significance (Aug 08, 2022)
6-132588977-C-A		not specified	Uncertain significance (Nov 18, 2022)
6-132588998-G-A		not specified	Uncertain significance (Dec 17, 2021)
6-132589006-G-A			Benign (May 16, 2018)
6-132589070-G-A		not specified	Uncertain significance (Sep 13, 2023)
6-132589104-G-T			Likely benign (Feb 01, 2023)
6-132589128-G-A		not specified	Uncertain significance (Dec 26, 2023)
6-132589267-C-G			Benign (Aug 20, 2018)
6-132589310-C-A		not specified	Uncertain significance (Nov 12, 2021)
6-132589328-G-A		not specified	Uncertain significance (Sep 07, 2022)
6-132589330-G-A			Likely benign (May 16, 2018)
6-132589344-T-C		not specified	Uncertain significance (Mar 06, 2023)
6-132589364-C-A		not specified	Uncertain significance (Jul 14, 2021)
6-132589374-A-G		not specified	Uncertain significance (May 25, 2022)
6-132589380-C-T		not specified	Uncertain significance (Dec 19, 2023)
6-132589392-A-G		not specified	Uncertain significance (Jul 16, 2021)
6-132589487-G-A			Likely benign (May 16, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAAR5	protein_coding	protein_coding	ENST00000258034	1	1147

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.21e-11	0.00955	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.25	232	184	1.26	0.00000925	2187
Missense in Polyphen		88	71.082	1.238		925
Synonymous	-0.473	84	78.7	1.07	0.00000411	702
Loss of Function	-1.44	13	8.47	1.54	3.61e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Olfactory receptor specific for trimethylamine, a trace amine. Also activated at lower level by dimethylethylamine. Trimethylamine is a bacterial metabolite found in some animal odors, and to humans it is a repulsive odor associated with bad breath and spoiled food. This receptor is probably mediated by the G(s)-class of G-proteins which activate adenylate cyclase. {ECO:0000269|PubMed:23393561}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.761
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.46

Haploinsufficiency Scores

• pHI: 0.169
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.216

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taar5
• Phenotype: taste/olfaction phenotype

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;sensory perception of chemical stimulus
• Cellular component: integral component of plasma membrane
• Molecular function: trace-amine receptor activity;G protein-coupled receptor activity;trimethylamine receptor activity