USF3

Chr 3

upstream transcription factor family member 3

Also known as: KIAA2018

NCBI Gene: 205717 ENSG00000176542 UniProt: Q68DE3 OMIM: 617568

This gene encodes a transcriptional regulator containing a helix-loop-helix domain that negatively regulates epithelial-mesenchymal transition, the process by which epithelial cells lose polarity and become migratory mesenchymal cells. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants in the population, indicating that such variants are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]

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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted