ZSCAN30

Chr 18

zinc finger and SCAN domain containing 30

Also known as: ZNF-WYM, ZNF397OS, ZNF917

NCBI Gene: 100101467 ENSG00000186814 UniProt: Q86W11

The protein functions as a DNA-binding transcription factor that regulates gene expression by RNA polymerase II in the nucleus. Mutations in this gene cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and behavioral abnormalities. The gene shows very low constraint against loss-of-function variants, suggesting tolerance to such 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

1.43

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)