ZNF618
Chr 9zinc finger protein 618
ZNF618 encodes a transcriptional coregulator that regulates UHRF2 function as a 5-hydroxymethylcytosine reader by controlling its chromatin localization, and enables transcription coregulator binding activity at pericentric heterochromatin. Loss-of-function mutations cause autosomal recessive neurodevelopmental disorder with severe intellectual disability and variable features. The gene is highly intolerant to loss-of-function variants, with pathogenicity resulting from disrupted epigenetic regulation of gene expression.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZNF618 · 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 →No open access results found
External Resources
Links to major genomics databases and tools