ZNF689

Chr 16

zinc finger protein 689

Also known as: TIPUH1

NCBI Gene: 115509 ENSG00000156853 UniProt: Q96CS4 OMIM: 618033

The ZNF689 protein binds histones and regulates transcription by RNA polymerase II. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy or early childhood. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.5), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Enables histone binding activity. Involved in regulation of transcription by RNA polymerase II. Located in cytoplasm and 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)

—

P/LP submissions

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P/LP missense

0.50

LOEUF

GOF

Mechanism· predicted