ZNF688

Chr 16

zinc finger protein 688

NCBI Gene: 146542 ENSG00000229809 UniProt: P0C7X2

ZNF688 encodes a DNA-binding transcription factor that regulates gene transcription in the nucleus. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, epilepsy, and developmental delay. The gene shows low constraint to loss-of-function variation, suggesting the pathogenic variants may act through alternative mechanisms.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.67

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)