ZNF248

Chr 10

zinc finger protein 248

Also known as: bA162G10.3

NCBI Gene: 57209 ENSG00000198105 UniProt: Q8NDW4

The protein functions as a DNA-binding transcription factor that regulates RNA polymerase II-mediated gene transcription in the nucleus. Mutations in this gene cause autosomal recessive intellectual disability with seizures and brain malformations, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.485), suggesting some intolerance to complete protein loss.

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. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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)

—

P/LP submissions

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P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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