Version 5.4
Mus musculus Protein: Ccm2
Summary
InnateDB Protein IDBP-148295.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ccm2
Protein Name cerebral cavernous malformation 2 homolog (human)
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000000388
InnateDB Gene IDBG-148293 (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. May also 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. {ECO:0000269PubMed:14634666, ECO:0000269PubMed:19151727}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:14634666}. Note=Treatment with sorbitol caused relocalization to ruffle-like structures.
Disease Associations
Tissue Specificity Highly expressed in heart, lower expression in kidney, lung and liver (at protein level). {ECO:0000269PubMed:14634666}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001568 blood vessel development
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001885 endothelial cell development
GO:0001944 vasculature development
GO:0007507 heart development
GO:0035264 multicellular organism growth
GO:0045216 cell-cell junction organization
GO:0048839 inner ear development
GO:0048845 venous blood vessel morphogenesis
GO:0060039 pericardium development
GO:0060837 blood vessel endothelial cell differentiation
GO:0061154 endothelial tube morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0043234 protein complex
Protein Structure and Domains
PDB ID MGI:2384924
InterPro IPR006020 PTB/PI domain
PFAM PF00640
PF14719
PRINTS
PIRSF
SMART SM00462
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8K2Y9
PhosphoSite PhosphoSite-Q8K2Y9
TrEMBL Q3TM53
UniProt Splice Variant
Entrez Gene 216527
UniGene Mm.221271
RefSeq NP_666126
MGI ID
MGI Symbol Ccm2
OMIM
CCDS CCDS24422
HPRD
IMGT
EMBL AK155145 AK166131 AL603787 AL646047 AY442689 BC029157
GenPept AAH29157 AAR29082 BAE33075 BAE38589 CAI24218 CAI24220 CAI25990 CAI25992

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