ADNP2

Chr 18

ADNP homeobox 2

Also known as: ZNF508

NCBI Gene: 22850 ENSG00000101544 UniProt: Q6IQ32 OMIM: 617422

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.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in nervous system development and regulation of gene expression. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.39

LOEUF

LOF

Mechanism· predicted