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CLIP2 gene
URL of this page: https://medlineplus.gov/genetics/gene/clip2/

CLIP2 gene

CAP-Gly domain containing linker protein 2

Normal Function

The CLIP2 gene provides instructions for making a protein called CAP-Gly domain containing linker protein 2. The protein is also known as CLIP-115. This protein is found predominantly in the brain, where it likely plays a role in the normal structure and function of nerve cells. Within cells, this protein is thought to regulate aspects of the cytoskeleton, the structural framework that helps to determine cell shape, size, and movement. The protein is associated with microtubules, which are rigid, hollow fibers that make up a significant part of the cytoskeleton. Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.

Health Conditions Related to Genetic Changes

Williams syndrome

The CLIP2 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with this condition are missing one copy of the CLIP2 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the unique behavioral traits and other symptoms involving the nervous system. A deletion of this gene probably disrupts the normal regulation of the cytoskeleton and affects the structure of nerve cells in the brain. It is not known how these changes may be related to the characteristic signs and symptoms of Williams syndrome.

More About This Health Condition

Other Names for This Gene

  • CAP-GLY domain containing linker protein 2
  • CLIP-115
  • CLIP2_HUMAN
  • CYLN2
  • Cytoplasmic linker protein 115
  • Cytoplasmic linker protein 2
  • KIAA0291
  • MGC11333
  • WBSCR4
  • WSCR4

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • De Zeeuw CI, Hoogenraad CC, Goedknegt E, Hertzberg E, Neubauer A, Grosveld F, Galjart N. CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies. Neuron. 1997 Dec;19(6):1187-99. doi: 10.1016/s0896-6273(00)80411-0. Citation on PubMed
  • Hoogenraad CC, Akhmanova A, Galjart N, De Zeeuw CI. LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome. Bioessays. 2004 Feb;26(2):141-50. doi: 10.1002/bies.10402. Citation on PubMed
  • Hoogenraad CC, Akhmanova A, Grosveld F, De Zeeuw CI, Galjart N. Functional analysis of CLIP-115 and its binding to microtubules. J Cell Sci. 2000 Jun;113 ( Pt 12):2285-97. doi: 10.1242/jcs.113.12.2285. Citation on PubMed
  • Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7(5):380-93. doi: 10.1038/nrn1906. Citation on PubMed
  • Meyer-Lindenberg A, Mervis CB, Sarpal D, Koch P, Steele S, Kohn P, Marenco S, Morris CA, Das S, Kippenhan S, Mattay VS, Weinberger DR, Berman KF. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 2005 Jul;115(7):1888-95. doi: 10.1172/JCI24892. Epub 2005 Jun 9. Citation on PubMed or Free article on PubMed Central

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