Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CCM2 (cerebral cavernous malformation 2)

Identity

Other namesC7orf22
OSM
HGNC (Hugo) CCM2
LocusID (NCBI) 83605
Location 7p13
Location_base_pair Starts at 45067233 and ends at 45116069 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)CCM2   21708
Entrez_Gene (NCBI)CCM2  83605  cerebral cavernous malformation 2
Cards
GeneCards (Weizmann)CCM2
Ensembl (Hinxton)ENSG00000136280 [Gene_View]  chr7:45067233-45116069 [Contig_View]  CCM2 [Vega]
AceView (NCBI)CCM2
Genatlas (Paris)CCM2
SOURCE (Stanford)NM_001029835 NM_001167934 NM_001167935 NM_031443
Genomic and cartography
GoldenPath (UCSC)CCM2  -  7p13   chr7:45067233-45116069 +  7p13   [Description]    (hg19-Feb_2009)
EnsemblCCM2 - 7p13 [CytoView]
Mapping of homologs : NCBICCM2 [Mapview]
OMIM603284   607929   
Gene and transcription
Genbank (Entrez)AF370392 AI538498 AK025807 AK098005 AK124060
RefSeq transcript (SRS)NM_001029835 NM_001167934 NM_001167935 NM_031443
RefSeq transcript (Entrez)NM_001029835 NM_001167934 NM_001167935 NM_031443
RefSeq genomic (SRS)AC_000068 AC_000139 NC_000007 NC_018918 NG_016295 NT_007819 NT_079592 NW_001839004 NW_004078029
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NG_016295 NT_007819 NT_079592 NW_001839004 NW_004078029
Consensus coding sequences : CCDS (NCBI)CCM2
Cluster EST : UnigeneHs.148272 [ SRS ] Hs.148272 [ NCBI ]
CGAP (NCI)Hs.148272
Alternative Splicing : Fast-db (Paris)GSHG0027331
Alternative Splicing GalleryENSG00000136280
Gene ExpressionCCM2 [ NCBI-GEO ]   CCM2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSQ5 (SRS) Q9BSQ5 (Uniprot)
NextProtQ9BSQ5
With graphics : InterProQ9BSQ5
Splice isoforms : SwissVarQ9BSQ5(Swissvar)
Domaine pattern : Prosite (SRS)PID (PS01179)   
Domaine pattern : Prosite (Expaxy)PID (PS01179)   
Domains : Interpro (SRS)Malcavernin    PTyr_interaction_dom   
Domains : Interpro (EBI)Malcavernin    PTyr_interaction_dom   
Related proteins : CluSTrQ9BSQ5
Domain families : Pfam (SRS)
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM83605
Blocks (Seattle)Q9BSQ5
Human Protein AtlasENSG00000136280
HPRD09719
IPIIPI00465425   IPI00470393   IPI00619952   IPI00945844   IPI00946003   IPI00945679   IPI00944924   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSQ5
IntAct (EBI)Q9BSQ5
FunCoupENSG00000136280
REACTOMECCM2
Protein Interaction Database83605
BioGRIDCCM2
InParanoidQ9BSQ5
Interologous Interaction database Q9BSQ5
IntegromeDBCCM2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CCM2
SNP (GeneSNP Utah)CCM2
SNP : HGBaseCCM2
Genetic variants : HAPMAPCCM2
Somatic Mutations in Cancer : COSMICCCM2 
CONAN: Copy Number AnalysisCCM2 
Mutations and Diseases : HGMDCCM2
OMIM603284    607929   
GENETests603284    607929   
Disease Genetic AssociationCCM2
Huge Navigator CCM2 [HugePedia]  CCM2 [HugeCancerGEM]
Genomic VariantsCCM2  CCM2 [DGVbeta]
snp3D : Map Gene to Disease83605
General knowledge
Homologs : HomoloGeneCCM2
Homology/Alignments : Family Browser (UCSC)CCM2
Phylogenetic Trees/Animal Genes : TreeFamCCM2
Chemical/Protein Interactions : CTD83605
Chemical/Pharm GKB GenePA26145
Clinical trialCCM2
Cancer Resource (Charite)ENSG00000136280
Ontology : AmiGOvasculogenesis  protein binding  cytoplasm  integrin-mediated signaling pathway  stress-activated MAPK cascade  endothelial tube morphogenesis  
Ontology : EGO-EBIvasculogenesis  protein binding  cytoplasm  integrin-mediated signaling pathway  stress-activated MAPK cascade  endothelial tube morphogenesis  
Other databases
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
PubGeneCCM2
iHOPCCM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:35:32 CEST 2013
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.