TACR3

Chr 4AR

tachykinin receptor 3

Also known as: HH11, NK-3R, NK3, NK3R, NKR, TAC3R, TAC3RL

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 neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypogonadotropic hypogonadism 11 with or without anosmiaMIM #614840
AR
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.74
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TACR3
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.74LOEUF
pLI 0.000
Z-score -0.97
OE 1.24 (0.891.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.58Z-score
OE missense 0.90 (0.811.00)
233 obs / 259.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.24 (0.891.74)
00.351.4
Missense OE?0.90 (0.811.00)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 23 / 18.5Missense obs/exp: 233 / 259.1Syn Z: 0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TACR3 · 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

No active trials found for this gene.

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