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CCM2 Gene

protein-coding   GIFtS: 60
GCID: GC07P045039

Cerebral Cavernous Malformation 2

(Previous name: chromosome 7 open reading frame 22)
(Previous symbol: C7orf22)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cerebral Cavernous Malformation 21 2     Chromosome 7 Open Reading Frame 221
C7orf221 2 3 5     OSM2
malcavernin1 2     MGC40675
Cerebral Cavernous Malformations 2 Protein2 3     

External Ids:    HGNC: 217081   Entrez Gene: 836052   Ensembl: ENSG000001362807   OMIM: 6079295   UniProtKB: Q9BSQ53   

Export aliases for CCM2 gene to outside databases

Previous GC identifers: GC07U990144 GC00U914335 GC07P044781 GC07P044813 GC07P045006 GC07P044924


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CCM2 Gene:
This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase
(MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as
SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal
cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene
result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been
found for this gene.(provided by RefSeq, Nov 2009)

GeneCards Summary for CCM2 Gene:
CCM2 (cerebral cavernous malformation 2) is a protein-coding gene. Diseases associated with CCM2 include cerebral angioma, and cerebral cavernous malformations-2. An important paralog of this gene is CCM2L.

UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5
Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and
integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a
scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent
p38 activation induced by hyperosmotic shock (By similarity)

Gene Wiki entry for CCM2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCM2 gene promoter:
         SRY   AML1a   Ik-2   Lmo2   XBP-1   Tal-1beta   GATA-1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): CCM2 promoter sequence
   Search Chromatin IP Primers for CCM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCM2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7p13

CCM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCM2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P045039:  view genomic region     (about GC identifiers)

Start:
45,039,074 bp from pter      End:
45,116,069 bp from pter
Size:
76,996 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 45,078,823-45,155,546     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5 (See protein sequence)
Recommended Name: Malcavernin  
Size: 444 amino acids; 48837 Da
Subunit: Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its
nucleotide-bound state (By similarity). Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction
with HEG1 (By similarity). Interacts with PDCD10
1 PDB 3D structure from and Proteopedia for CCM2:
4FQN (3D)    
Secondary accessions: A4D2L4 B3KUV0 D3DVL4 E9PDJ3 F5H0E1 F5H551 Q71RE5 Q8TAT4
Alternative splicing: 4 isoforms:  Q9BSQ5-1   Q9BSQ5-2   Q9BSQ5-3   Q9BSQ5-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for CCM2: NX_Q9BSQ5

Explore proteomics data for CCM2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys96
  • Modification sites at PhosphoSitePlus

  • See CCM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001025006.1  NP_001161406.1  NP_001161407.1  NP_113631.1  

    ENSEMBL proteins: 
     ENSP00000258781   ENSP00000417251   ENSP00000417180   ENSP00000419474   ENSP00000418763  
     ENSP00000444725   ENSP00000438035   ENSP00000370503  

    CCM2 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CCM2
    OriGene Protein Over-expression Lysate for CCM2
    OriGene MassSpec for CCM2
    OriGene Custom Protein Services for CCM2
    GenScript Custom Purified and Recombinant Proteins Services for CCM2
    Novus Biologicals CCM2 Proteins
    Novus Biologicals CCM2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CCM2

    CCM2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CCM2
    OriGene Custom Antibody Services for CCM2
    Novus Biologicals CCM2 Antibodies
    Abcam antibodies for CCM2
    Cloud-Clone Corp. Antibodies for CCM2
    ThermoFisher Antibodies for CCM2
    LSBio Antibodies in human, mouse, rat for CCM2

    CCM2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CCM2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CCM2
    Cloud-Clone Corp. CLIAs for CCM2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR006020 PTB/PI_dom
     IPR026159 Malcavernin

    Graphical View of Domain Structure for InterPro Entry Q9BSQ5

    ProtoNet protein and cluster: Q9BSQ5

    1 Blocks protein domain: IPB006020 Phosphotyrosine interaction domain

    UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5
    Domain: The C-terminal region constitutes an independently folded domain that has structural similarity with the
    USH1C (harmonin) N-terminus, despite very low sequence similarity
    Similarity: Belongs to the CCM2 family
    Similarity: Contains 1 PID domain


    CCM2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCM2_HUMAN, Q9BSQ5
    Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and
    integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a
    scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent
    p38 activation induced by hyperosmotic shock (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16037064
         
    CCM2 for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Ccm2):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  nervous system  normal  vision/eye 

    CCM2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CCM2: Ccm2tm1.1Kwhi Ccm2tm1.1Etl Ccm2tm1Sbn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCM2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCM2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCM2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCM2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CCM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCM2 (see all 20):
    hsa-miR-3607-5p hsa-miR-4251 hsa-miR-513a-5p hsa-miR-128 hsa-miR-944 hsa-miR-3921 hsa-miR-1323 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidCCM2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CCM2
    Predesigned siRNA for gene silencing in human, mouse, rat CCM2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CCM2

    Clone
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    OriGene clones in human, mouse for CCM2 (see all 21)
    OriGene ORF clones in mouse, rat for CCM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CCM2 (NM_001029835)
    Sino Biological Human cDNA Clone for CCM2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCM2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CCM2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CCM2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCM2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CCM2_HUMAN, Q9BSQ5: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA16037064
    GO:0043234protein complex IEA--

    CCM2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CCM2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of p38-alpha and p38-beta
    Regulation of p38-alpha and p38-beta
    2p38 MAPK signaling pathway (Pathway Interaction Database)
    p38 MAPK signaling pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CCM2 (see all 17)
        MAPK Signaling
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Rho Family GTPases

    2 BioSystems Pathways for CCM2
        p38 MAPK signaling pathway
    Regulation of p38-alpha and p38-beta



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCM2
    Interactions:

        GeneGlobe Interaction Network for CCM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for CCM2 (Q9BSQ51, 2, 3 ENSP000003705034) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDCD10Q9BUL81, 2, 3EBI-1573056,EBI-740195 MINT-8404432 I2D: score=1 
    KRIT1O005221, 3, ENSP000003446684EBI-1573056,EBI-1573121 I2D: score=3 STRING: ENSP00000344668
    STK25O005063, ENSP000003257484I2D: score=1 STRING: ENSP00000325748
    ITGB1BP1O147133I2D: score=1 
    MAP2K3ENSP000003450834STRING: ENSP00000345083
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis IMP14740320
    GO:0001701in utero embryonic development IEA--
    GO:0001885endothelial cell development IEA--
    GO:0001944vasculature development ----

    CCM2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCM2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCM2 gene (4 alternative transcripts): 
    NM_001029835.2  NM_001167934.1  NM_001167935.1  NM_031443.3  

    Unigene Cluster for CCM2:

    Cerebral cavernous malformation 2
    Hs.148272  [show with all ESTs]
    Unigene Representative Sequence: BC063663
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000461377 ENST00000258781(uc003tmn.3 uc003tmo.3) ENST00000478582
    ENST00000488727 ENST00000478169 ENST00000475551 ENST00000482714(uc011kcb.2)
    ENST00000492883(uc011kcc.2) ENST00000480658 ENST00000474617 ENST00000472223
    ENST00000476594 ENST00000481194 ENST00000477605 ENST00000480382 ENST00000470837
    ENST00000541586(uc003tmp.3) ENST00000544363(uc003tmr.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CCM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCM2 (see all 20):
    hsa-miR-3607-5p hsa-miR-4251 hsa-miR-513a-5p hsa-miR-128 hsa-miR-944 hsa-miR-3921 hsa-miR-1323 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidCCM2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CCM2
    Predesigned siRNA for gene silencing in human, mouse, rat CCM2
    Clone
    Products:
         
    OriGene clones in human, mouse for CCM2 (see all 21)
    OriGene ORF clones in mouse, rat for CCM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CCM2 (NM_001029835)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCM2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CCM2
    OriGene qSTAR qPCR primer pairs in human, mouse for CCM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCM2
      QuantiTect SYBR Green Assays in human, mouse, rat CCM2
      QuantiFast Probe-based Assays in human, mouse, rat CCM2

    Additional mRNA sequence: 

    AF370392.1 AK025807.1 AK098005.1 AK124060.1 AK298671.1 AK303216.1 AK303534.1 BC004903.2 
    BC008859.2 BC016832.2 BC025958.1 BC063663.1 NR_030770.1 

    Selected DOTS entries (see all 26):

    DT.115138  DT.91748621  DT.95265625  DT.101985403  DT.101985404  DT.75177829  DT.100658551  DT.100708054 
    DT.40246656  DT.100874334  DT.421395  DT.100658554  DT.100658556  DT.95265630  DT.97854011  DT.97854012 
    DT.121115768  DT.95265627  DT.95265628  DT.100753867  DT.100865952  DT.95265624  DT.100869005  DT.121115819 

    Selected AceView cDNA sequences (see all 354):

    BQ893781 BQ438969 CR618287 BM559552 CR607004 AI568693 AA354204 BI818798 
    CR604060 BC016832 AI220314 BX404837 BE794162 BE395407 CA427018 CR618943 
    NM_031443 BF059020 CR596053 AW072937 CR599466 BU859289 BE791970 CA397994 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCM2 (see all 28)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14a · 14b · 14c ^
    SP1:                                -     -     -     -     -     -                 -     -     -                                   -                           
    SP2:                                                              -                 -     -     -                                   -                           
    SP3:                                -     -     -     -     -     -                 -     -     -                                   -     -     -     -     -   
    SP4:                                -     -     -     -     -                       -     -     -                                   -     -     -     -     -   
    SP5:                                -     -     -     -     -     -     -     -     -     -     -                                   -                           

    ExUns: 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g
    SP1:                    -     -     -           -                       -                                                               
    SP2:                    -     -     -           -                       -                                                               
    SP3:  -     -     -     -     -     -           -                       -                                                               
    SP4:                    -     -     -           -                                                                                       
    SP5:                    -     -     -           -                       -                                                               


    ECgene alternative splicing isoforms for CCM2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCM2 expression in normal human tissues (normalized intensities)      CCM2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTCCTAT
    CCM2 Expression
    About this image


    CCM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CCM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.148272
        Custom PCR Arrays for CCM2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CCM2
    OriGene qSTAR qPCR primer pairs in human, mouse for CCM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCM2
    QuantiTect SYBR Green Assays in human, mouse, rat CCM2
    QuantiFast Probe-based Assays in human, mouse, rat CCM2
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCM2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CCM2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccm21 , 5 cerebral cavernous malformation 2 homolog (human)5
    cerebral cavernous malformation 21
    89.53(n)1
    94.04(a)1
      11 (4.45 cM)5
    2165271  NM_146014.31  NP_666126.11 
     65468875 
    chicken
    (Gallus gallus)
    Aves CCM21 cerebral cavernous malformation 2 80.23(n)
    85.98(a)
      420410  NM_001197144.1  NP_001184073.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCM26
    cerebral cavernous malformation 2
    79(a)
    1 ↔ 1
    GL344330.1(20645-39173)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.69912 Xenopus laevis transcribed sequence with moderate similarity more 75.12(n)    BJ623365.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccm21 cerebral cavernous malformation 2 70.99(n)
    77.31(a)
      436586  NM_001002315.2  NP_001002315.1 


    ENSEMBL Gene Tree for CCM2 (if available)
    TreeFam Gene Tree for CCM2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCM2 gene
    CCM2L2  
    1 SIMAP similar gene for CCM2 using alignment to 5 protein entries:     CCM2_HUMAN (see all proteins):
    CCM2L

    CCM2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCM2 (see all 1777)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673524
    Cerebral cavernous malformations 2 (CCM2)4--see VAR_0673522 Q H mis40--------
    VAR_0235774
    Cerebral cavernous malformations 2 (CCM2)4--see VAR_0235772 L R mis40--------
    VAR_0673534
    Cerebral cavernous malformations 2 (CCM2)4--see VAR_0673532 L Q mis40--------
    rs14766171,2
    C,F,A,H--45013544(+) tatctT/Ctaaaa 1 -- us2k111Minor allele frequency- C:0.09NA WA CSA EA 372
    rs1413047511,2
    --45013644(+) AGAGAA/GAGACA 4 -- us2k10--------
    rs750421741,2
    F--45013781(+) GACATT/CGAGTC 4 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1507988441,2
    --45014028(+) TGTTGC/TTTACT 4 -- us2k10--------
    rs1390073671,2
    --45014054(+) AAATAC/TGCATT 4 -- us2k10--------
    rs1494619321,2
    --45014061(+) CATTTA/GTGGAA 4 -- us2k10--------
    rs1120081771,2
    C--45014149(+) ATTTGC/GGTGTG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCM2 (45039074 - 45116069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CCM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv366390CNV Loss16902084
    nsv888001CNV Loss21882294

    Human Gene Mutation Database (HGMD): CCM2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CCM2
    DNA2.0 Custom Variant and Variant Library Synthesis for CCM2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607929   
    OMIM disorders: 603284  
    UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5
  • Cerebral cavernous malformations 2 (CCM2) [MIM:603284]: A congenital vascular anomaly of the central
    nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic
    deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of
    endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several
    centimeters. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for CCM2:    About MalaCards
    cerebral angioma    cerebral cavernous malformations-2    cavernous malformation    cerebral cavernous malformation
    familial cerebral cavernous malformation 2    cerebral cavernous malformation, familial    cerebral cavernous malformations-1    cerebral cavernous malformations 3
    cerebritis    klippel-trenaunay syndrome    acrocallosal syndrome    headache
    endotheliitis    retinitis    multiple myeloma    myeloma
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CCM2:
    Cerebrovascular accident     Acrocallosal syndrome

    CCM2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for CCM2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebral cavernous malformations 98.8 32 19088124 (2), 17345049 (2), 17657516 (2), 16373645 (1) (see all 19)
    hemorrhagic stroke 84.7 1 19370760 (1)
    vascular anomaly 76.7 1 15905966 (1)
    malformation venous 71.7 1 16379592 (1)
    klippel-trenaunay syndrome 60.6 1 16379592 (1)

    GeneTests: CCM2
    GeneReviews: CCM2
    Genetic Association Database (GAD): CCM2
    Human Genome Epidemiology (HuGE) Navigator: CCM2 (4 documents)

    Export disorders for CCM2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CCM2 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with CCM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations within the MGC4607 gene cause cerebral cavernous malformations. (PubMed id 14740320)1, 2, 9 Denier C....Tournier-Lasserve E. (Am. J. Hum. Genet. 2004)
    2. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. (PubMed id 14624391)1, 2, 9 Liquori C.L.... Marchuk D.A. (Am. J. Hum. Genet. 2003)
    3. Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. (PubMed id 23266514)1, 2 Fisher O.S.... Boggon T.J. (FEBS Lett. 2013)
    4. De Novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations. (PubMed id 22415356)1, 2 Mosca L.... Penco S. (J. Mol. Neurosci. 2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83605 HGNC: 21708 AceView: CCM2 Ensembl:ENSG00000136280 euGenes: HUgn83605
    ECgene: CCM2 H-InvDB: CCM2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CCM2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CCM2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CCM2 gene:
    Search GeneIP for patents involving CCM2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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