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Genetics Home Reference: your guide to understanding genetic conditions
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SRCAP

Reviewed December 2012

What is the official name of the SRCAP gene?

The official name of this gene is “Snf2-related CREBBP activator protein.”

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

What is the normal function of the SRCAP gene?

The SRCAP gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene, called CREB binding protein, plays a key role in regulating cell growth and division and is important for normal development.

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

Floating-Harbor syndrome - caused by mutations in the SRCAP gene

At least five SRCAP gene mutations have been identified in people with Floating-Harbor syndrome, a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The SRCAP gene mutations that cause Floating-Harbor syndrome may result in an altered protein that interferes with normal activation of the CREBBP gene, resulting in problems in development. However, the relationship between SRCAP gene mutations and the specific signs and symptoms of Floating-Harbor syndrome is unknown.

Where is the SRCAP gene located?

Cytogenetic Location: 16p11.2

Molecular Location on chromosome 16: base pairs 30,710,461 to 30,751,449

The SRCAP gene is located on the short (p) arm of chromosome 16 at position 11.2.

The SRCAP gene is located on the short (p) arm of chromosome 16 at position 11.2.

More precisely, the SRCAP gene is located from base pair 30,710,461 to base pair 30,751,449 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SRCAP?

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK114458/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SRCAP (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10847%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SRCAP%5BTIAB%5D)%20OR%20((EAF1%5BTIAB%5D)%20OR%20(FLHS%5BTIAB%5D)%20OR%20(Snf2-related%20CBP%20activator%20protein%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/611421)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SRCAP.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/10847)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=10847)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=16974)

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

  • domino homolog 2
  • DOMO1
  • EAF1
  • FLHS
  • helicase SRCAP
  • KIAA0309
  • Snf2-related CBP activator protein
  • SRCAP_HUMAN
  • Swi2/Snf2-related ATPase homolog, domino homolog 1
  • SWR1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SRCAP?

cell ; gene ; helicase ; protein ; short stature ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/10847)
  • Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/22265015?dopt=Abstract)
  • OMIM: SNF2-RELATED CBP ACTIVATOR PROTEIN (http://omim.org/entry/611421)
  • Slupianek A, Yerrum S, Safadi FF, Monroy MA. The chromatin remodeling factor SRCAP modulates expression of prostate specific antigen and cellular proliferation in prostate cancer cells. J Cell Physiol. 2010 Aug;224(2):369-75. doi: 10.1002/jcp.22132. (http://www.ncbi.nlm.nih.gov/pubmed/20432434?dopt=Abstract)
  • Wong MM, Cox LK, Chrivia JC. The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters. J Biol Chem. 2007 Sep 7;282(36):26132-9. Epub 2007 Jul 8. (http://www.ncbi.nlm.nih.gov/pubmed/17617668?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2012
Published: May 20, 2013