ZNF521

Chr 18

zinc finger protein 521

Also known as: EHZF, Evi3

NCBI Gene: 25925 ENSG00000198795 UniProt: Q96K83

This transcription factor acts as both an activator and repressor depending on context, regulating BMP signaling and hematopoietic system development while also controlling neuronal fate commitment through interactions with other transcription factors like EBF1. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delays. The gene is highly constrained against loss-of-function variants, indicating intolerance to haploinsufficiency.

ResearchSummary from RefSeq, UniProt

Enables protein domain specific binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [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)

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P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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