ZBTB21

Chr 21

zinc finger and BTB domain containing 21

Also known as: ZNF295

NCBI Gene: 49854 ENSG00000173276 UniProt: Q9ULJ3

The ZBTB21 protein acts as a transcription repressor that binds DNA and regulates gene expression by inhibiting RNA polymerase II transcription. Mutations cause autosomal dominant intellectual disability with variable features including developmental delay, seizures, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that ZBTB21 haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; POZ domain binding activity; and methyl-CpG binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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