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Ccm2
Gene Detail
Symbol

Name
ID
Ccm2
cerebral cavernous malformation 2
MGI:2384924
Synonyms
MGC:37115
Feature Type
protein coding gene
Genetic Map
Chromosome 11
4.45 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:6546887-6596744 bp, + strand
From VEGA annotation of GRCm38

  49858 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12868  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CCM2
Gene Tree: Ccm2

Human
homologs
CCM2, cerebral cavernous malformation 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 83605
neXtProt AC: NX_Q9BSQ5

Human Synonyms: C7orf22, OSM, PP10187

Human Chr (Location): 7p13; chr7:44999746-45076470 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CCM2

Mutations,
alleles, and
phenotypes
All mutations/alleles(57) : Gene trapped(48) Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta.
 
Human Diseases Modeled in Mice Using Ccm2 (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(1)
Interactions
Ccm2 interacts with 95 markers (Mir17, Mir18, Mir18b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process blood vessel development, blood vessel endothelial cell differentiation, ...
Component cytoplasm, protein complex
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (113)    Tissues (77)    Images (44)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 100
RT-PCR 7
cDNA source data(65)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ccm2 ; ZFIN ccm2    NEW 
Molecular
reagents
All nucleic(66) cDNA(65) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000005120 (Evidence)
Ensembl Gene Model ENSMUSG00000000378 (Evidence)
Entrez Gene 216527 (Evidence)
UniGene 221271
DFCI TC1575352
DoTS DT.489625, DT.110544244
NIA Mouse Gene Index U012301
Consensus CDS Project CCDS24422.1, CCDS48751.1
International Mouse Phenotyping Consortium Status Ccm2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005120 VEGA Gene Model | MGI Sequence Detail 49858 C57BL/6J ±  kb
transcript OTTMUST00000011466 VEGA | MGI Sequence Detail 1858 Not Applicable 
polypeptide OTTMUSP00000005338 VEGA | MGI Sequence Detail 453 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(8) UniProt(6)
Polymorphisms
SNPs within 2kb(361 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026159 Malcavernin
InterPro IPR006020 Phosphotyrosine interaction domain
InterPro IPR011993 Pleckstrin homology-like domain
Protein Ontology PR:000005113 malcavernin
References
(Earliest) J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
(Latest) J:201629 Faurobert E, et al., CCM1-ICAP-1 complex controls beta1 integrin-dependent endothelial contractility and fibronectin remodeling. J Cell Biol. 2013 Aug 5;202(3):545-61
All references(47)
Disease annotation references (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory