ZNF516

Chr 18

zinc finger protein 516

Also known as: HsT287

NCBI Gene: 9658 ENSG00000101493 UniProt: Q92618

This protein functions as a transcriptional regulator that activates genes involved in brown adipose tissue differentiation and thermogenesis, and may play a role in cellular response to replication stress. Mutations in ZNF516 cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy. The gene is highly constrained against loss-of-function variation in the general population.

ResearchSummary from RefSeq, UniProt

Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]

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

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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