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; chr7:45039345-45116069 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CCM2

Alleles and phenotypes

All alleles(57) : Targeted(9) Gene trapped(48)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (25 annotations)

Process	blood vessel development, blood vessel endothelial cell differentiation, ...
Component	cytoplasm, protein complex
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (100)    Tissues (63)    Images (37)
Theiler Stages: 17, 22, 23, 28

Assay Type	Results
RNA in situ	100

cDNA source data(65)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(65) cDNA(65)
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.110544244, DT.489625
NIA Mouse Gene Index	U012301
Consensus CDS Project	CCDS24422.1, CCDS48751.1
International Mouse Knockout Project Status	Ccm2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005120	VEGA Gene Model | MGI Sequence Detail	49858	C57BL/6J
transcript	OTTMUST00000011466	VEGA | MGI Sequence Detail	1858	Not Applicable
polypeptide	OTTMUSP00000005338	VEGA | MGI Sequence Detail	453	Not Applicable

All sequences(58) RefSeq(6) UniProt(6)

Polymorphisms

SNPs(189 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187714 Zheng X, et al., Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. Dev Cell. 2012 Aug 14;23(2):342-55
All references(48)