ZNF496

Chr 1

zinc finger protein 496

Also known as: NIZP1, ZFP496, ZKSCAN17, ZSCAN49

NCBI Gene: 84838 ENSG00000162714 UniProt: Q96IT1

This gene encodes a DNA-binding transcription factor that functions as both a transcriptional activator and repressor. ZNF496 is highly constrained against loss-of-function variants (pLI=1.00, LOEUF=0.25), suggesting that mutations likely cause severe developmental disorders, though specific associated diseases have not yet been established in the literature.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [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)

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P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

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Mechanism

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