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CCM2 (CCM2 scaffolding protein)

Identity

Alias_namesC7orf22
chromosome 7 open reading frame 22
cerebral cavernous malformation 2
Alias_symbol (synonym)MGC4607
OSM
Other aliasPP10187
HGNC (Hugo) CCM2
LocusID (NCBI) 83605
Atlas_Id 51185
Location 7p13  [Link to chromosome band 7p13]
Location_base_pair Starts at 45027634 and ends at 45076470 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCM2 (7p13) / SUGCT (7p14.1)CCM2 7p13 C7orf10

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CCM2   21708
LRG (Locus Reference Genomic)LRG_664
Cards
Entrez_Gene (NCBI)CCM2  83605  CCM2 scaffolding protein
AliasesC7orf22; OSM; PP10187
GeneCards (Weizmann)CCM2
Ensembl hg19 (Hinxton)ENSG00000136280 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136280 [Gene_View]  chr7:45027634-45076470 [Contig_View]  CCM2 [Vega]
ICGC DataPortalENSG00000136280
TCGA cBioPortalCCM2
AceView (NCBI)CCM2
Genatlas (Paris)CCM2
WikiGenes83605
SOURCE (Princeton)CCM2
Genetics Home Reference (NIH)CCM2
Genomic and cartography
GoldenPath hg38 (UCSC)CCM2  -     chr7:45027634-45076470 +  7p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCM2  -     7p13   [Description]    (hg19-Feb_2009)
EnsemblCCM2 - 7p13 [CytoView hg19]  CCM2 - 7p13 [CytoView hg38]
Mapping of homologs : NCBICCM2 [Mapview hg19]  CCM2 [Mapview hg38]
OMIM603284   607929   
Gene and transcription
Genbank (Entrez)AF370392 AI538498 AK025807 AK098005 AK124060
RefSeq transcript (Entrez)NM_001029835 NM_001167934 NM_001167935 NM_031443
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCM2
Cluster EST : UnigeneHs.148272 [ NCBI ]
CGAP (NCI)Hs.148272
Alternative Splicing GalleryENSG00000136280
Gene ExpressionCCM2 [ NCBI-GEO ]   CCM2 [ EBI - ARRAY_EXPRESS ]   CCM2 [ SEEK ]   CCM2 [ MEM ]
Gene Expression Viewer (FireBrowse)CCM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83605
GTEX Portal (Tissue expression)CCM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSQ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSQ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSQ5
Splice isoforms : SwissVarQ9BSQ5
PhosPhoSitePlusQ9BSQ5
Domaine pattern : Prosite (Expaxy)PID (PS01179)   
Domains : Interpro (EBI)CCM2_C    Malcavernin    PH_dom-like    PTB/PI_dom   
Domain families : Pfam (Sanger)CCM2_C (PF16545)   
Domain families : Pfam (NCBI)pfam16545   
Conserved Domain (NCBI)CCM2
DMDM Disease mutations83605
Blocks (Seattle)CCM2
PDB (SRS)4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
PDB (PDBSum)4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
PDB (IMB)4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
PDB (RSDB)4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
Structural Biology KnowledgeBase4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
SCOP (Structural Classification of Proteins)4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
CATH (Classification of proteins structures)4FQN    4TVQ    4WJ7    4Y5O    4YKC    4YKD    4YL6   
SuperfamilyQ9BSQ5
Human Protein AtlasENSG00000136280
Peptide AtlasQ9BSQ5
HPRD09719
IPIIPI00465425   IPI00470393   IPI00619952   IPI00945844   IPI00946003   IPI00945679   IPI00944924   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSQ5
IntAct (EBI)Q9BSQ5
FunCoupENSG00000136280
BioGRIDCCM2
STRING (EMBL)CCM2
ZODIACCCM2
Ontologies - Pathways
QuickGOQ9BSQ5
Ontology : AmiGOvasculogenesis  in utero embryonic development  endothelial cell development  protein binding  cytoplasm  mitochondrion  integrin-mediated signaling pathway  multicellular organism growth  protein complex  cell-cell junction organization  inner ear development  venous blood vessel morphogenesis  stress-activated MAPK cascade  pericardium development  blood vessel endothelial cell differentiation  endothelial tube morphogenesis  
Ontology : EGO-EBIvasculogenesis  in utero embryonic development  endothelial cell development  protein binding  cytoplasm  mitochondrion  integrin-mediated signaling pathway  multicellular organism growth  protein complex  cell-cell junction organization  inner ear development  venous blood vessel morphogenesis  stress-activated MAPK cascade  pericardium development  blood vessel endothelial cell differentiation  endothelial tube morphogenesis  
NDEx NetworkCCM2
Atlas of Cancer Signalling NetworkCCM2
Wikipedia pathwaysCCM2
Orthology - Evolution
OrthoDB83605
GeneTree (enSembl)ENSG00000136280
Phylogenetic Trees/Animal Genes : TreeFamCCM2
HOVERGENQ9BSQ5
HOGENOMQ9BSQ5
Homologs : HomoloGeneCCM2
Homology/Alignments : Family Browser (UCSC)CCM2
Gene fusions - Rearrangements
Fusion : MitelmanCCM2/SUGCT [7p13/7p14.1]  
Fusion: TCGACCM2 7p13 C7orf10 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCM2
dbVarCCM2
ClinVarCCM2
1000_GenomesCCM2 
Exome Variant ServerCCM2
ExAC (Exome Aggregation Consortium)CCM2 (select the gene name)
Genetic variants : HAPMAP83605
Genomic Variants (DGV)CCM2 [DGVbeta]
DECIPHERCCM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCM2 
Mutations
ICGC Data PortalCCM2 
TCGA Data PortalCCM2 
Broad Tumor PortalCCM2
OASIS PortalCCM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCM2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
BioMutasearch CCM2
DgiDB (Drug Gene Interaction Database)CCM2
DoCM (Curated mutations)CCM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCM2 (select a term)
intoGenCCM2
Cancer3DCCM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603284    607929   
Orphanet18935   
MedgenCCM2
Genetic Testing Registry CCM2
NextProtQ9BSQ5 [Medical]
TSGene83605
GENETestsCCM2
Target ValidationCCM2
Huge Navigator CCM2 [HugePedia]
snp3D : Map Gene to Disease83605
BioCentury BCIQCCM2
ClinGenCCM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83605
Chemical/Pharm GKB GenePA26145
Clinical trialCCM2
Miscellaneous
canSAR (ICR)CCM2 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCM2
EVEXCCM2
GoPubMedCCM2
iHOPCCM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 16:57:05 CEST 2017

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