ONECUT2

Chr 18

one cut homeobox 2

Also known as: OC-2, OC2

NCBI Gene: 9480 ENSG00000119547 UniProt: O95948

The protein is a transcription factor that binds specific DNA sequences and activates expression of target genes involved in liver development and melanocyte differentiation. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with intellectual disability, often accompanied by seizures and brain malformations. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [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

0.39

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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