ZNF367

Chr 9

zinc finger protein 367

ZNF367 encodes a transcriptional activator that may regulate erythroid gene expression. Mutations cause autosomal dominant intellectual disability with seizures and growth retardation. The gene is highly constrained against loss-of-function variants (pLI 0.91, LOEUF 0.40), indicating that haploinsufficiency is likely not tolerated.

OMIMResearchSummary from UniProt
LOFmechanismLOEUF 0.40
Clinical SummaryZNF367
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.91). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.40LOEUF
pLI 0.906
Z-score 2.94
OE 0.08 (0.030.40)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.65Z-score
OE missense 0.44 (0.360.53)
78 obs / 177.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.08 (0.030.40)
00.351.4
Missense OE0.44 (0.360.53)
00.61.4
Synonymous OE0.95
01.21.6
LoF obs/exp: 1 / 12.0Missense obs/exp: 78 / 177.4Syn Z: 0.34
DN
0.3196th %ile
GOF
0.3193th %ile
LOF
0.81top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.40

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF367 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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