SALL3

Chr 18

spalt like transcription factor 3

Also known as: ZNF796

NCBI Gene: 27164 ENSG00000256463 UniProt: Q9BXA9

The protein is a zinc-finger transcription factor that regulates DNA methylation by binding to and inhibiting DNA methyltransferase 3 alpha (DNMT3A). Mutations cause autosomal dominant intellectual disability with developmental delay and distinctive facial features. The gene shows significant constraint against loss-of-function variants (LOEUF 0.44), reflecting its important role in embryonic development.

ResearchSummary from RefSeq, UniProt

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]

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

0.44

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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