ADNP2
Chr 18ADNP homeobox 2
Also known as: ZNF508
ADNP2 encodes a DNA-binding transcription factor that regulates gene expression and is predicted to be involved in nervous system development. Mutations cause neurodevelopmental disorders with intellectual disability, typically presenting in early childhood. The gene follows autosomal dominant inheritance and shows high constraint against loss-of-function variants (LOEUF 0.39), indicating that such variants are likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% 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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADNP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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