Description: Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 2, mRNA. RefSeq Summary (NM_031443): This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]. Transcript (Including UTRs) Position: hg19 chr7:45,039,787-45,116,069 Size: 76,283 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr7:45,039,933-45,115,656 Size: 75,724 Coding Exon Count: 10
ID:CCM2_HUMAN DESCRIPTION: RecName: Full=Malcavernin; AltName: Full=Cerebral cavernous malformations 2 protein; FUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3- dependent p38 activation induced by hyperosmotic shock (By similarity). SUBUNIT: Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state (By similarity). Interacts with PDCD10. Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1 (By similarity). INTERACTION: O00522:KRIT1; NbExp=3; IntAct=EBI-1573056, EBI-1573121; Q9BUL8:PDCD10; NbExp=4; IntAct=EBI-1573056, EBI-740195; SUBCELLULAR LOCATION: Cytoplasm (By similarity). DISEASE: Defects in CCM2 are the cause of cerebral cavernous malformations type 2 (CCM2) [MIM:603284]. Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and are usually present clinically during the 3rd to 5th decades of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. SIMILARITY: Contains 1 PID domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CCM2";
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CCM2 CDC HuGE Published Literature: CCM2 Positive Disease Associations: C-Reactive Protein Related Studies:
C-Reactive Protein Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BSQ5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
