TAAR2

trace amine associated receptor 2, the group of Trace amine receptors

Basic information

Region (hg38): 6:132617022-132624275

Previous symbols: [ "GPR58" ]

Links

ENSG00000146378 ∙ NCBI:9287 ∙ OMIM:604849 ∙ HGNC:4514 ∙ Uniprot:Q9P1P5 ∙ 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 TAAR2 gene.

• not_specified (48 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAAR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001033080.1. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			47	1		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAAR2	protein_coding	protein_coding	ENST00000367931	2	7254

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.64e-11	0.0207	116765	510	8413	125688	0.0362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.236	193	184	1.05	0.00000835	2317
Missense in Polyphen		64	67.489	0.94831		895
Synonymous	-0.569	70	64.2	1.09	0.00000304	656
Loss of Function	-0.725	14	11.4	1.23	6.44e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0335	0.0333
Ashkenazi Jewish	0.0150	0.0149
East Asian	0.198	0.194
Finnish	0.0158	0.0159
European (Non-Finnish)	0.0234	0.0230
Middle Eastern	0.198	0.194
South Asian	0.0595	0.0590
Other	0.0327	0.0321

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• 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: 0.0769

Intolerance Scores

• loftool: 0.806
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.19

Haploinsufficiency Scores

• pHI: 0.192
• 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: 0.123

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taar2

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