ZNF536
Chr 19zinc finger protein 536
This zinc finger transcriptional repressor negatively regulates neuronal differentiation by repressing retinoic acid-induced gene transcription and interrupting retinoic acid receptor binding to DNA response elements. Mutations cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, reflecting its critical role in normal neurodevelopment.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZNF536 · 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