The impact of SETBP1 mutations in neurological diseases and cancer

Genes Cells. 2023 Sep;28(9):629-641. doi: 10.1111/gtc.13057. Epub 2023 Jul 25.


SE translocation (SET) is a cancer-promoting factor whose expression is upregulated in many cancers. High SET expression positively correlates with a poor cancer prognosis. SETBP1 (SET-binding protein 1/SEB/MRD29), identified as SET-binding protein, is the causative gene of Schinzel-Giedion syndrome, which is characterized by severe intellectual disability and a distorted facial appearance. Mutations in these genetic regions are also observed in some blood cancers, such as myelodysplastic syndromes, and are associated with a poor prognosis. However, the physiological role of SETBP1 and the molecular mechanisms by which the mutations lead to disease progression have not yet been fully elucidated. In this review, we will describe the current epidemiological data on SETBP1 mutations and shed light on the current knowledge about the SET-dependent and -independent functions of SETBP1.

Keywords: PP2A; SET; SETBP1; cancer; neurological disease.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Carrier Proteins / genetics
  • Craniofacial Abnormalities* / genetics
  • Humans
  • Intellectual Disability* / genetics
  • Mutation
  • Neoplasms*
  • Nuclear Proteins / genetics


  • SETBP1 protein, human
  • Carrier Proteins
  • Nuclear Proteins