TAC3

Chr 12

tachykinin precursor 3

Also known as: HH10, LncZBTB39, NK3, NKB, NKNB, PRO1155, ZNEUROK1

This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypogonadotropic hypogonadism 10 with or without anosmia
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.19
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TAC3
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.012
Z-score 1.23
OE 0.52 (0.261.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.76 (0.600.96)
50 obs / 65.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.261.19)
00.351.4
Missense OE?0.76 (0.600.96)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 4 / 7.7Missense obs/exp: 50 / 65.7Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAC3 · 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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