ZNF512B

Chr 20

zinc finger protein 512B

Also known as: GM632

NCBI Gene: 57473 ENSG00000196700 UniProt: Q96KM6

The protein functions as a transcriptional repressor that binds DNA and associates with the NuRD complex to regulate gene expression through histone deacetylation and chromatin remodeling. Mutations cause neurodevelopmental disorder with developmental delay, seizures, and variable additional features, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that such variants are likely pathogenic when they occur.

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 miRNA transcription. Located in 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)

—

P/LP submissions

—

P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429