ZNF536

Chr 19

zinc finger protein 536

NCBI Gene: 9745 ENSG00000198597 UniProt: O15090 OMIM: 618037

This zinc finger transcriptional repressor negatively regulates neuronal differentiation by repressing retinoic acid-induced gene transcription and interrupting retinoic acid receptor binding to DNA response elements. Mutations cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, reflecting its critical role in normal neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]

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

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted