ZNF721

Chr 4

zinc finger protein 721

NCBI Gene: 170960 ENSG00000182903 UniProt: Q8TF20

The protein is a zinc finger transcription factor that regulates gene expression by RNA polymerase II through DNA binding in the nucleus. Mutations in ZNF721 cause autosomal dominant neurodevelopmental disorder with intellectual disability, though the gene shows relatively low constraint to loss-of-function variation. The disorder primarily affects the central nervous system with developmental delays and cognitive impairment.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.89

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)