Version 5.4
Homo sapiens Gene: CCM2
Summary
InnateDB Gene IDBG-15466.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCM2
Gene Name cerebral cavernous malformation 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000136280
Encoded Proteins
IDBP-15468
cerebral cavernous malformation 2
IDBP-15470
cerebral cavernous malformation 2
IDBP-476943
cerebral cavernous malformation 2
IDBP-478316
cerebral cavernous malformation 2
IDBP-477246
cerebral cavernous malformation 2
IDBP-483079
cerebral cavernous malformation 2
IDBP-591117
cerebral cavernous malformation 2
IDBP-594739
cerebral cavernous malformation 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:44999475-45076469
Strand Forward strand
Band p13
Transcripts
ENST00000258781 ENSP00000258781
ENST00000381112 ENSP00000370503
ENST00000461377
ENST00000478582
ENST00000488727 ENSP00000417251
ENST00000478169
ENST00000475551 ENSP00000417180
ENST00000482714
ENST00000480658
ENST00000492883
ENST00000474617 ENSP00000419474
ENST00000472223
ENST00000476594
ENST00000481194
ENST00000477605
ENST00000480382 ENSP00000418763
ENST00000470837
ENST00000541586 ENSP00000444725
ENST00000544363 ENSP00000438035
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:0001568 blood vessel development
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001885 endothelial cell development
GO:0001944 vasculature development
GO:0007229 integrin-mediated signaling pathway
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:0051403 stress-activated MAPK cascade
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000378
View Gene Order
ENSBTAG00000008090
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
p38alphabetapathway
Regulation of p38-alpha and p38-beta
p38_mkk3_6pathway
p38 MAPK signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 83605
UniGene Hs.600116
RefSeq NM_001029835 NM_001167934 NM_001167935 NM_031443 XM_006715785 XM_006715786
HUGO HGNC:21708
OMIM 607929
CCDS CCDS34630 CCDS5500 CCDS55108 CCDS55109
HPRD 09719
IMGT
EMBL
GenPept
RNA Seq Atlas 83605

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