ZBTB5

Chr 9

zinc finger and BTB domain containing 5

NCBI Gene: 9925 ENSG00000168795 UniProt: O15062 OMIM: 616590

This protein functions as a DNA-binding transcription repressor that negatively regulates RNA polymerase II transcription in the nucleus. Mutations in ZBTB5 cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and dystonia. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.483), consistent with its role in neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription repressor 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. Located in 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)

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P/LP submissions

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P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted