CLIP2

Reviewed March 2008

What is the official name of the CLIP2 gene?

The official name of this gene is “CAP-GLY domain containing linker protein 2.”

CLIP2 is the gene's official symbol. The CLIP2 gene is also known by other names, listed below.

What is the normal function of the CLIP2 gene?

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.

How are changes in the CLIP2 gene related to health conditions?

Williams syndrome - associated with the CLIP2 gene: 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.

Where is the CLIP2 gene located?

Cytogenetic Location: 7q11.23

Molecular Location on chromosome 7: base pairs 73,703,804 to 73,820,272

The CLIP2 gene is located on the long (q) arm of chromosome 7 at position 11.23.

More precisely, the CLIP2 gene is located from base pair 73,703,804 to base pair 73,820,272 on chromosome 7.

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 CLIP2?

You and your healthcare professional may find the following resources about CLIP2 helpful.

Educational resources - Information pages
The Cell: A Molecular Approach (second edition, 2000): Microtubules (http://www.ncbi.nlm.nih.gov/books/NBK9932/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1249/)

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=((CYLN2%5BTIAB%5D)%20OR%20(cytoplasmic%20linker%202%5BTIAB%5D))%20OR%20((CLIP-115%5BTIAB%5D)%20OR%20(CLIP2%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/603432)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7461)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7461)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2586)

What other names do people use for the CLIP2 gene or gene products?

CLIP2_HUMAN
CLIP-115
CYLN2
Cytoplasmic linker protein 2
Cytoplasmic linker protein 115
KIAA0291
MGC11333
WBSCR4
WSCR4

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 CLIP2?

cell ; cell division ; chromosome ; cytoskeleton ; deletion ; domain ; gene ; Gly ; nervous system ; protein ; 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

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. (http://www.ncbi.nlm.nih.gov/pubmed/9427243?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7461)
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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14745832?dopt=Abstract)
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. (http://www.ncbi.nlm.nih.gov/pubmed/10825300?dopt=Abstract)
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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16760918?dopt=Abstract)
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. Epub 2005 Jun 9. (http://www.ncbi.nlm.nih.gov/pubmed/15951840?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.



	http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®