Version 5.4
Homo sapiens Protein: CCM2
Summary
InnateDB Protein IDBP-15468.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCM2
Protein Name cerebral cavernous malformation 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000258781
InnateDB Gene IDBG-15466 (CCM2)
Protein Structure
UniProt Annotation
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). {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000250}.
Disease Associations Cerebral cavernous malformations 2 (CCM2) [MIM:603284]: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. 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. {ECO:0000269PubMed:14624391, ECO:0000269PubMed:14740320, ECO:0000269PubMed:22415356}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001570 vasculogenesis
GO:0007229 integrin-mediated signaling pathway
GO:0051403 stress-activated MAPK cascade
GO:0061154 endothelial tube morphogenesis
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR006020 PTB/PI domain
PFAM PF00640
PF14719
PRINTS
PIRSF
SMART SM00462
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BSQ5
PhosphoSite PhosphoSite-Q9BSQ5
TrEMBL
UniProt Splice Variant
Entrez Gene 83605
UniGene Hs.600116
RefSeq NP_113631
HUGO HGNC:21708
OMIM 607929
CCDS CCDS5500
HPRD 09719
IMGT
EMBL AC004847 AC013416 AF370392 AK098005 BC004903 BC008859 BC016832 BC025958 CH236960 CH471128
GenPept AAH04903 AAH08859 AAH16832 AAH25958 AAQ15228 BAG53562 EAL23746 EAW61061 EAW61064

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca