TACR2

Chr 10

tachykinin receptor 2

Also known as: NK2R, NKNAR, SKR, TAC2R

NCBI Gene: 6865ENSG00000075073UniProt: P21452

This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.17
OE 0.64 (0.38–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.43Z-score
OE missense 0.92 (0.82–1.03)
220 obs / 238.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.38–1.16)
0≤0.351.4
Missense OE?0.92 (0.82–1.03)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 8 / 12.5Missense obs/exp: 220 / 238.9Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TACR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients