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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 zebrafish

Gene Tree: Ccm2

Human
homologs
Human Homolog CCM2, cerebral cavernous malformation 2
NCBI Gene ID 83605
neXtProt AC  NX_Q9BSQ5
Human Synonyms  C7orf22, OSM
Human Chr (Location)  7p13; chr7:44999746-45076470 (+)  GRCh38
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 )
 
Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta.
 
Human Diseases Modeled Using Mouse Ccm2 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(1)
Interactions
Ccm2 interacts with 96 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 (100)    Tissues (63)    Images (37)
Theiler Stages: 17, 22, 23, 28
Assay TypeResults
RNA in situ 100
cDNA source data(65)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(65) cDNA(65)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000005120 (Evidence)
Ensembl Gene ModelENSMUSG00000000378 (Evidence)
Entrez Gene216527 (Evidence)
UniGene221271
DFCITC1575352
DoTSDT.110544244, DT.489625
NIA Mouse Gene IndexU012301
Consensus CDS ProjectCCDS24422.1, CCDS48751.1
International Mouse Knockout Project StatusCcm2
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(60) 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(49)
Disease annotation references (3)

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
08/12/2014
MGI 5.19
The Jackson Laboratory