TAAR1

trace amine associated receptor 1, the group of Trace amine receptors

Basic information

Region (hg38): 6:132643312-132659182

Previous symbols: [ "TRAR1" ]

Links

ENSG00000146399 ∙ NCBI:134864 ∙ OMIM:609333 ∙ HGNC:17734 ∙ Uniprot:Q96RJ0 ∙ 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 TAAR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAAR1 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	1	3
missense			14		2	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	3

Variants in TAAR1

This is a list of pathogenic ClinVar variants found in the TAAR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-132645015-C-G		not specified	Uncertain significance (Oct 02, 2023)
6-132645090-G-A		not specified	Uncertain significance (May 03, 2023)
6-132645153-G-A		not specified	Uncertain significance (Nov 09, 2022)
6-132645166-T-C		not specified	Uncertain significance (Oct 03, 2023)
6-132645198-A-T		not specified	Uncertain significance (Jul 09, 2024)
6-132645250-T-C			Benign (Jun 06, 2018)
6-132645259-C-T		not specified	Uncertain significance (Jul 19, 2022)
6-132645283-T-C		not specified	Uncertain significance (Dec 04, 2024)
6-132645308-T-A		not specified	Uncertain significance (Aug 20, 2024)
6-132645328-C-T		not specified	Uncertain significance (Nov 15, 2024)
6-132645355-C-T		not specified	Uncertain significance (Apr 19, 2024)
6-132645383-T-C			Likely benign (Jun 18, 2018)
6-132645414-G-A		not specified	Uncertain significance (Mar 22, 2023)
6-132645504-C-T		not specified	Uncertain significance (Aug 08, 2022)
6-132645542-A-G			Likely benign (Apr 05, 2018)
6-132645618-A-G		not specified	Uncertain significance (Jul 25, 2023)
6-132645702-C-T		not specified	Uncertain significance (Jan 23, 2023)
6-132645712-T-C		not specified	Uncertain significance (Aug 16, 2022)
6-132645723-A-G		not specified	Uncertain significance (Jan 16, 2024)
6-132645862-T-C		not specified	Uncertain significance (Mar 28, 2024)
6-132645888-A-G		not specified	Uncertain significance (Jul 30, 2024)
6-132645893-T-G			Benign (Jun 27, 2018)
6-132645936-C-T		not specified	Uncertain significance (Sep 27, 2021)
6-132645937-G-A			Benign (Apr 06, 2018)
6-132645965-A-C		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAAR1	protein_coding	protein_coding	ENST00000275216	1	1020

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000392	0.647	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.686	204	178	1.14	0.00000806	2269
Missense in Polyphen		57	50.968	1.1184		631
Synonymous	-0.637	66	59.7	1.10	0.00000278	621
Loss of Function	0.711	6	8.20	0.732	3.40e-7	121

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: Receptor for trace amines, including beta- phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. The signal transduced by this receptor is mediated by the G(s)-class of G-proteins which activate adenylate cyclase. {ECO:0000269|PubMed:15718104}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);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: 0.105

Intolerance Scores

• loftool: 0.619
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.190
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.209

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taar1
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: trace-amine receptor activity;G protein-coupled receptor activity