ZNF512B
Chr 20zinc finger protein 512B
Also known as: GM632
The protein functions as a transcriptional repressor that binds DNA and associates with the NuRD complex to regulate gene expression through histone deacetylation and chromatin remodeling. Mutations cause neurodevelopmental disorder with developmental delay, seizures, and variable additional features, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that such variants are likely pathogenic when they occur.
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
200 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 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 126 | 11 | 0 | 137 |
Likely Benign | 0 | 7 | 1 | 9 | 17 |
Benign | 0 | 4 | 1 | 7 | 12 |
| Total | 0 | 137 | 34 | 16 | 187 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF512B · 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