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CCM2

CCM2

Reviewed November 2012

What is the official name of the CCM2 gene?

The official name of this gene is “cerebral cavernous malformation 2.”

CCM2 is the gene's official symbol. The CCM2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CCM2 gene?

The CCM2 gene provides instructions for making a protein called malcavernin, which strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. Malcavernin interacts with a number of other proteins to form a complex that is found in the junctions that connect neighboring cells. As part of this complex, malcavernin helps turn off (suppress) a signaling molecule known as RhoA-GTPase. This molecule plays a role in regulating the actin cytoskeleton, which is a network of fibers that makes up the cell's structural framework. When turned on, RhoA-GTPase stimulates the formation of actin fibers, which has been linked to weakened junctions between cells and increased leakage from blood vessels.

Malcavernin is also involved in a process called angiogenesis, which is the formation of new blood vessels.

How are changes in the CCM2 gene related to health conditions?

cerebral cavernous malformation - caused by mutations in the CCM2 gene

Dozens of mutations in the CCM2 gene have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. Most of these mutations result in an abnormally short or malformed malcavernin protein that does not function. A shortage of this protein likely impairs the function of the complex. As a result, RhoA-GTPase signaling is turned on abnormally, weakening cellular junctions and increasing the permeability of blood vessel walls. The increased leakage into the brain can cause health problems such as headaches, seizures, and bleeding in the brain (cerebral hemorrhage) in some people with cerebral cavernous malformations.

Mutations in the CCM2 gene are involved in approximately 15 percent of all familial cerebral cavernous malformation cases.

Where is the CCM2 gene located?

Cytogenetic Location: 7p13

Molecular Location on chromosome 7: base pairs 44,999,745 to 45,076,469

The CCM2 gene is located on the short (p) arm of chromosome 7 at position 13.

The CCM2 gene is located on the short (p) arm of chromosome 7 at position 13.

More precisely, the CCM2 gene is located from base pair 44,999,745 to base pair 45,076,469 on chromosome 7.

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

Where can I find additional information about CCM2?

You and your healthcare professional may find the following resources about CCM2 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 CCM2 gene or gene products?

  • C7orf22
  • CCM2_HUMAN
  • chromosome 7 open reading frame 22
  • MGC4067
  • MGC4607
  • OSM

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CCM2?

actin ; angiogenesis ; cavernous ; cell ; cerebral hemorrhage ; chromosome ; cytoskeleton ; familial ; gene ; hemorrhage ; malformation ; molecule ; open reading frame ; permeability ; protein ; reading frame

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

See also Understanding Medical Terminology.

References (13 links)

 

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: November 2012
Published: December 16, 2014