TACR2

tachykinin receptor 2, the group of Tachykinin receptors

Basic information

Region (hg38): 10:69403903-69416918

Previous symbols: [ "TAC2R", "NKNAR" ]

Links

ENSG00000075073 ∙ NCBI:6865 ∙ OMIM:162321 ∙ HGNC:11527 ∙ Uniprot:P21452 ∙ 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 TACR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TACR2 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	2
missense			19	2	3	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	19	3	4

Variants in TACR2

This is a list of pathogenic ClinVar variants found in the TACR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-69404842-G-T		not specified	Uncertain significance (Dec 15, 2022)
10-69404881-C-G		not specified	Uncertain significance (Aug 21, 2023)
10-69404895-G-A			Benign (May 18, 2018)
10-69405000-C-T			Likely benign (May 15, 2018)
10-69405001-G-C		not specified	Uncertain significance (Nov 30, 2022)
10-69405035-G-A		not specified	Uncertain significance (Jan 24, 2024)
10-69405049-C-T		not specified	Uncertain significance (Dec 17, 2023)
10-69405055-C-T			Benign (May 18, 2018)
10-69405056-G-A		not specified	Uncertain significance (Nov 07, 2022)
10-69405080-G-A		not specified	Uncertain significance (May 16, 2023)
10-69407253-G-C		not specified	Likely benign (Oct 14, 2023)
10-69407261-A-G		not specified	Uncertain significance (Jan 18, 2022)
10-69407271-T-C			Benign (May 15, 2018)
10-69409031-G-A		not specified	Likely benign (Feb 15, 2023)
10-69414967-T-C		not specified	Uncertain significance (Jan 23, 2024)
10-69414976-G-A		not specified	Uncertain significance (Aug 22, 2022)
10-69415051-C-A		not specified	Uncertain significance (May 07, 2024)
10-69415108-G-A		not specified	Uncertain significance (Feb 16, 2023)
10-69415924-C-T			Benign (May 17, 2018)
10-69415973-C-T		not specified	Uncertain significance (May 13, 2024)
10-69416046-T-C		not specified	Uncertain significance (Oct 27, 2022)
10-69416074-C-A		not specified	Uncertain significance (Apr 27, 2022)
10-69416085-A-C		not specified	Uncertain significance (Jul 11, 2023)
10-69416103-T-C		not specified	Uncertain significance (Dec 28, 2023)
10-69416130-C-T		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TACR2	protein_coding	protein_coding	ENST00000373306	5	12965

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000883	0.796	125637	0	110	125747	0.000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.434	220	239	0.921	0.0000133	2583
Missense in Polyphen		57	64.093	0.88933		756
Synonymous	0.214	98	101	0.973	0.00000619	824
Loss of Function	1.17	8	12.5	0.641	5.33e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000769	0.000769
Ashkenazi Jewish	0.00190	0.00189
East Asian	0.000928	0.000925
Finnish	0.00	0.00
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.000928	0.000925
South Asian	0.000686	0.000686
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P. {ECO:0000269|PubMed:1659297}.
• Pathway: Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;Signaling by GPCR;Signal Transduction;Tachykinin receptors bind tachykinins;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.151

Intolerance Scores

• loftool: 0.814
• rvis_EVS: 2.09
• rvis_percentile_EVS: 97.85

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.167

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.784

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tacr2

Gene ontology

• Biological process: muscle contraction;G protein-coupled receptor signaling pathway;tachykinin receptor signaling pathway;excretion;positive regulation of acetylcholine secretion, neurotransmission;intestine smooth muscle contraction;negative regulation of luteinizing hormone secretion;operant conditioning;positive regulation of vascular permeability;response to electrical stimulus;prolactin secretion;positive regulation of uterine smooth muscle contraction;positive regulation of flagellated sperm motility
• Cellular component: plasma membrane;integral component of plasma membrane;sperm flagellum;sperm head;sperm midpiece
• Molecular function: tachykinin receptor activity;protein binding;substance K receptor activity