ZNHIT3

Chr 17

zinc finger HIT-type containing 3

Also known as: Hit1, PEHO, TRIP3

NCBI Gene: 9326ENSG00000273611UniProt: Q15649

Predicted to enable nuclear thyroid hormone receptor binding activity. Predicted to be involved in box C/D snoRNP assembly; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and snoRNA localization. Located in cytoplasm and nucleus. Implicated in PEHO syndrome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 1.80
Clinical Summary— ZNHIT3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.000
Z-score -0.33
OE 1.13 (0.67–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.60Z-score
OE missense 1.19 (1.01–1.40)
98 obs / 82.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.13 (0.67–1.80)
0≤0.351.4
Missense OE?1.19 (1.01–1.40)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 9 / 8.0Missense obs/exp: 98 / 82.5Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNHIT3 · 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.

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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