SETBP1

Chr 18

SET binding protein 1

Also known as: MRD29, SEB

NCBI Gene: 26040 ENSG00000152217 UniProt: Q9Y6X0

The protein binds the SET nuclear oncogene and regulates DNA replication through its SET-binding region and ski homology domain. Mutations cause Schinzel-Giedion midface retraction syndrome and autosomal dominant intellectual developmental disorder through loss-of-function mechanisms. The inheritance pattern is autosomal dominant with extremely high intolerance to loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSchinzel-Giedion midface retraction syndrome

UniProtMyelodysplastic syndrome

UniProtIntellectual developmental disorder, autosomal dominant 29

UniProtLeukemia, acute myelogenous

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.11

LOEUF· LoF intol.

Multiple*

Mechanism· G2P

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GeneReview available — SETBP1