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CLIP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CLIP2 gene

The CLIP2 gene encodes a brain‑specific protein that regulates the cytoskeleton, and its deletion is linked to Williams syndrome.

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.

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

  • Tests of CLIP2

Scientific Articles on PubMed

  • PubMed

Catalog of Genes and Diseases from OMIM

  • CAP‑GLY DOMAIN‑CONTAINING LINKER PROTEIN 2; CLIP2

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

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

Genomic Location

The CLIP2 gene is found on chromosome 7.

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

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Frequently Asked Questions

The CLIP2 gene is one of approximately 25 to 28 genes deleted in the classic 7q11.23 microdeletion that causes Williams syndrome. While the loss of the elastin (ELN) gene causes the hallmark cardiovascular problems, hemizygous loss of CLIP2 alters microtubule dynamics and dendritic spine structure in the brain. Researchers link the loss of CLIP2 specifically to the impaired visuospatial construction, fine motor coordination difficulties, and cerebellar abnormalities frequently seen in individuals with Williams syndrome.
Yes, though rare, individuals with atypical or smaller partial deletions of chromosome 7q11.23 have been identified in clinical research. Studying individuals whose deletions include or spare CLIP2 has helped geneticists isolate its specific effects. Those missing CLIP2 alongside a limited set of neighboring genes typically show mild cognitive impairments, ataxia, or specific motor planning deficits without the classic facial features or severe supravalvular aortic stenosis caused by other genes in the typical deletion region.
There is currently no gene-targeted therapy to restore CLIP2 protein function in nerve cells. Clinical management centers on supportive neurodevelopmental care. Patients benefit significantly from early physical therapy to address hypotonia, occupational therapy to improve fine motor skills and hand-eye coordination, and targeted educational plans that accommodate specific visuospatial learning challenges.
Because the CLIP2 gene is deleted as part of a contiguous gene deletion syndrome, routine chromosome analysis (karyotype) usually lacks the resolution to detect it. Diagnosis is primarily confirmed using chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH) targeted to the 7q11.23 locus. High-resolution whole exome or genome sequencing with copy number variant calling can also identify the boundary of the deletion.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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