Version 5.4
Bos taurus Gene: CCM2
Summary
InnateDB Gene IDBG-634072.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCM2
Gene Name malcavernin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000008090
Encoded Proteins
IDBP-685826
cerebral cavernous malformation 2
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 4:77250091-77301198
Strand Reverse strand
Band
Transcripts
ENSBTAT00000033632 ENSBTAP00000033542
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Predicted by orthology
Total 10 [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
Mus musculus
Gene ID
Gene Order
ENSG00000136280
View Gene Order
ENSMUSG00000000378
View Gene Order
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 E1B8H2
UniProt Splice Variant
Entrez Gene 506450
UniGene Bt.7707
RefSeq NM_001193211 XM_005205580 XM_005205582 XM_005205583 XM_005205584 XM_005205585
HUGO HGNC:21708
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02011179
GenPept
RNA Seq Atlas 506450

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