Version 5.4
Mus musculus Gene: Ccm2
Summary
InnateDB Gene IDBG-148293.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ccm2
Gene Name cerebral cavernous malformation 2
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000000378
Encoded Proteins
IDBP-148295
cerebral cavernous malformation 2 homolog (human)
IDBP-261790
cerebral cavernous malformation 2 homolog (human)
IDBP-261792
cerebral cavernous malformation 2 homolog (human)
IDBP-541392
cerebral cavernous malformation 2 homolog (human)
IDBP-541853
cerebral cavernous malformation 2 homolog (human)
IDBP-534792
cerebral cavernous malformation 2 homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000136280:
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 11:6546887-6596744
Strand Forward strand
Band A1
Transcripts
ENSMUST00000000388 ENSMUSP00000000388
ENSMUST00000109722 ENSMUSP00000105344
ENSMUST00000109721 ENSMUSP00000105343
ENSMUST00000159007 ENSMUSP00000125608
ENSMUST00000161501 ENSMUSP00000123790
ENSMUST00000144293
ENSMUST00000160633 ENSMUSP00000125072
ENSMUST00000161667
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000136280
View Gene Order
ENSBTAG00000008090
Not yet available
Pathway Predictions based on Human Orthology Data
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
UniGene Mm.221271
RefSeq NM_001190343 NM_001190344 NM_146014 XM_006514622
OMIM
CCDS CCDS24422 CCDS48751
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

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