ZKSCAN2

Chr 16

zinc finger with KRAB and SCAN domains 2

Also known as: ZNF694

NCBI Gene: 342357 ENSG00000155592 UniProt: Q63HK3

The protein functions as a DNA-binding transcription factor that regulates gene expression by RNA polymerase II in the nucleus. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.55), indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)