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AliasesSETBP1, SET binding protein 1, SEB, MRD29, SET bindign protein 1
External IDsOMIM: 611060 MGI: 1933199 HomoloGene: 9192 GeneCards: SETBP1
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 18: 44.68 – 45.07 MbChr 18: 78.75 – 79.11 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.[5]


The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 12.3. This is also written as 18q12.3.


The SETBP1 gene provides instructions for making a protein known as the SET binding protein 1, which is widely distributed throughout somatic cells. The protein is known to bind to another protein called SET. SETBP1 is a DNA-binding protein that forms part of a group of proteins that act together on histone methylation to make chromatin more accessible and regulate gene expression.[6] There is still more to learn about the overall function of the SETBP1 protein and the effect of SET binding.

Clinical significance

Gain-of-function mutations in the SETBP1 gene are associated with Schinzel–Giedion syndrome.[7]

Loss-of-function mutations in the SETBP1 gene are associated with a SETBP1-related developmental delay called SETBP1 disorder which causes a spectrum of symptoms including absent speech/expressive language delays, mild-severe intellectual disability, autistic-traits/autism, developmental delays, ADHD, and seizures.[8] [9]

SETBP1 is an oncogene; specific somatic mutations of this gene were discovered in patients affected by atypical Chronic Myeloid Leukemia (aCML) and related diseases. These mutations, which are identical to the ones present in SGS as germ line mutations, impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein.[10]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152217 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024548 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: SET binding protein 1".
  6. ^ Piazza, Rocco; Magistroni, Vera; Redaelli, Sara; Mauri, Mario; Massimino, Luca; Sessa, Alessandro; Peronaci, Marco; Lalowski, Maciej; Soliymani, Rabah; Mezzatesta, Caterina; Pirola, Alessandra; Banfi, Federica; Rubio, Alicia; Rea, Delphine; Stagno, Fabio; Usala, Emilio; Martino, Bruno; Campiotti, Leonardo; Merli, Michele; Passamonti, Francesco; Onida, Francesco; Morotti, Alessandro; Pavesi, Francesca; Bregni, Marco; Broccoli, Vania; Baumann, Marc; Gambacorti-Passerini, Carlo (2018). "SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub". Nature Communications. 9 (1): 2192. doi:10.1038/s41467-018-04462-8. PMC 5989213. PMID 29875417.
  7. ^ Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Ferreira VB, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Lourenço CM, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW (Mar 2017). "Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies". PLOS Genetics. 13 (3): e1006683. doi:10.1371/journal.pgen.1006683. PMC 5386295. PMID 28346496.
  8. ^ Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T (Feb 2011). "Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome". Journal of Medical Genetics. 48 (2): 117–22. doi:10.1136/jmg.2010.084582. PMID 21037274. S2CID 38823269.
  9. ^ Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, Thompson E, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE (October 2014). "Refining analyses of copy number variation identifies specific genes associated with developmental delay". Nature Genetics. 46 (10): 1063–71. doi:10.1038/ng.3092. PMC 4177294. PMID 25217958.
  10. ^ Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, Schnittger S, Kim DW, Boultwood J, Rossi F, Gaipa G, De Martini GP, di Celle PF, Jang HG, Fantin V, Bignell GR, Magistroni V, Haferlach T, Pogliani EM, Campbell PJ, Chase AJ, Tapper WJ, Cross NC, Gambacorti-Passerini C (Jan 2013). "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia". Nature Genetics. 45 (1): 18–24. doi:10.1038/ng.2495. PMC 3588142. PMID 23222956.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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