ZNF706

Chr 8

zinc finger protein 706

Also known as: HSPC038, PNAS-106, PNAS-113

NCBI Gene: 51123 ENSG00000120963 UniProt: Q9Y5V0 OMIM: 619526

ZNF706 encodes a transcription repressor that binds zinc ions and negatively regulates DNA transcription, specifically repressing KLF4 expression to control embryonic stem cell exit from self-renewal. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and early-onset seizures. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.75), suggesting some tolerance to complete gene loss.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable zinc ion binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and negative regulation of stem cell population maintenance. Predicted to be 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

—

P/LP missense

0.75

LOEUF

—

Mechanism