ZNF445
Chr 3zinc finger protein 445
Also known as: ZFP445, ZKSCAN15, ZNF168, ZSCAN47
This transcription regulator maintains maternal and paternal gene imprinting by controlling DNA methylation at imprinting control regions during early embryonic development. Mutations cause transient neonatal diabetes mellitus with an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.21), indicating that heterozygous loss-of-function mutations are likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
157 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 126 | 1 | 0 | 128 |
Likely Benign | 0 | 7 | 0 | 0 | 7 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 1 | 134 | 8 | 0 | 143 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF445 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools