ZNF133

Chr 20

zinc finger protein 133

Also known as: ZNF150, pHZ-13, pHZ-66

NCBI Gene: 7692 ENSG00000125846 UniProt: P52736 OMIM: 604075

The protein functions as a transcriptional repressor that binds to specific DNA sequences to negatively regulate RNA polymerase II transcription in the nucleus. Mutations in ZNF133 have been associated with neurodevelopmental disorders including developmental delay and intellectual disability. The gene shows moderate constraint against loss-of-function variants and inheritance patterns vary depending on the specific clinical presentation.

OMIM ResearchSummary from RefSeq, UniProt

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

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.62

LOEUF

Multiple*

Mechanism· predicted