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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed January 2012

What is the official name of the SETBP1 gene?

The official name of this gene is “SET binding protein 1.”

SETBP1 is the gene's official symbol. The SETBP1 gene is also known by other names, listed below.

What is the normal function of the SETBP1 gene?

The SETBP1 gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is found in cells throughout the body. The SETBP1 protein is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown.

How are changes in the SETBP1 gene related to health conditions?

Schinzel-Giedion syndrome - caused by mutations in the SETBP1 gene

At least five mutations in the SETBP1 gene have been identified in children with Schinzel-Giedion syndrome, a severe condition apparent at birth that is characterized by distinctive facial features and abnormalities in many body systems. The gene mutations in affected individuals cluster in one region of the gene known as exon 4. However, the effects of the mutations on the function of the gene or the protein are unknown. Researchers are working to understand how mutations in the SETBP1 gene cause the signs and symptoms of Schinzel-Giedion syndrome.

Where is the SETBP1 gene located?

Cytogenetic Location: 18q21.1

Molecular Location on chromosome 18: base pairs 44,680,173 to 45,068,510

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The SETBP1 gene is located on the long (q) arm of chromosome 18 at position 21.1.

The SETBP1 gene is located on the long (q) arm of chromosome 18 at position 21.1.

More precisely, the SETBP1 gene is located from base pair 44,680,173 to base pair 45,068,510 on chromosome 18.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about SETBP1?

You and your healthcare professional may find the following resources about SETBP1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SETBP1 gene or gene products?

  • KIAA0437
  • SEB
  • SET-binding protein
  • SET-binding protein isoform a
  • SET-binding protein isoform b

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding SETBP1?

exon ; gene ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. (
  • Minakuchi M, Kakazu N, Gorrin-Rivas MJ, Abe T, Copeland TD, Ueda K, Adachi Y. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. Eur J Biochem. 2001 Mar;268(5):1340-51. (
  • NCBI Gene (
  • Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. Clin Genet. 2011 Apr;79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: January 2012
Published: February 8, 2016