ZNF12

Chr 7

zinc finger protein 12

Also known as: GIOT-3, HZF11, KOX3, ZNF325

NCBI Gene: 7559 ENSG00000164631 UniProt: P17014

The protein is a transcriptional repressor containing eight C2H2-type zinc fingers and a KRAB domain that suppresses AP-1 and serum response element-mediated gene expression during development. Mutations cause autosomal dominant developmental and epileptic encephalopathy with severe intellectual disability, typically with onset in infancy. The gene shows significant constraint against loss-of-function variants (LOEUF 0.51), consistent with the severe neurodevelopmental phenotype.

ResearchSummary from RefSeq, UniProt

This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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

0.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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