Aliases for CCM2 Gene
Aliases for CCM2 Gene
External Ids for CCM2 Gene
- HGNC: 21708
- Entrez Gene: 83605
- Ensembl: ENSG00000136280
- OMIM: 607929
- UniProtKB: Q9BSQ5
Previous HGNC Symbols for CCM2 Gene
- C7orf22
Previous GeneCards Identifiers for CCM2 Gene
- GC07U990144
- GC00U914335
- GC07P044781
- GC07P044813
- GC07P045006
- GC07P045039
- GC07P044924
Summaries 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 (CCM2 Scaffolding Protein) is a Protein Coding gene. Diseases associated with CCM2 include Cerebral Cavernous Malformations-2 and Familial Cerebral Cavernous Malformation 2. Among its related pathways are p38 MAPK signaling pathway (Pathway Interaction Database) and Regulation of p38-alpha and p38-beta. An important paralog of this gene is CCM2L.
UniProtKB/Swiss-Prot for CCM2 Gene
-
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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCM2 Gene
Genomics for CCM2 Gene
Regulatory Elements for CCM2 Gene
Enhancers for CCM2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CCM2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CCM2 gene promoter:
Regulatory Element Products
Genomic Location for CCM2 Gene
- Chromosome:
- 7
- Start:
- 44,999,475 bp from pter
- End:
- 45,076,470 bp from pter
- Size:
- 76,996 bases
- Orientation:
- Plus strand
Genomic View for CCM2 Gene
Genes around CCM2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p13 by Ensembl
- 7p13 by Entrez Gene
- 7p13 by HGNC
CCM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CCM2 Gene
Proteins for CCM2 Gene
-
Protein details for CCM2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BSQ5-CCM2_HUMAN
- Recommended name:
- Cerebral cavernous malformations 2 protein
- Protein Accession:
- Q9BSQ5
- A4D2L4
- B3KUV0
- D3DVL4
- E9PDJ3
- F5H0E1
- F5H551
- Q71RE5
- Q8TAT4
Protein attributes for CCM2 Gene
- Size:
- 444 amino acids
- Molecular mass:
- 48837 Da
- Quaternary structure:
-
- 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.
Three dimensional structures from OCA and Proteopedia for CCM2 Gene
Protein Expression for CCM2 Gene
Post-translational modifications for CCM2 Gene
Other Protein References for CCM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCM2
- TA503416S
- TA503417AM
- TA503417BM
- TA503417CM
- TA503417DM
- TA503417EM
- TA503417FM
- TA503417GM
- TA503417HM
- TA503417JM
- CF503462
- TA503462
- CF503461
- TA503461
- CF503420
- TA503420
- CF503419
- TA503419
- CF503418
- TA503418
- CF503417
- TA503417
- CF503416
- TA503416
- CF503414
- TA503414
- CF503413
- TA503413
- CF503410
- TA503410
- CF503397
- TA503397
- TA303163
- AP26022PU-N
- AP26022PU-L
- Novus Biologicals Antibodies for CCM2
- Invitrogen Antibodies for CCM2
- antibodies-online Antibodies for CCM2: See all 60
- GeneTex CCM2 antibody for CCM2
Protein Products
-
OriGene Purified Proteins for CCM2
- Search Origene for MassSpec and Protein Over-expression Lysates for CCM2
- Origene Custom Protein Services for CCM2
- ProSpec Recombinant Proteins for CCM2
- antibodies-online Proteins for CCM2: See all 10
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CCM2
Assay Products
- antibodies-online Kits for CCM2: See all 2
No data available for DME Specific Peptides for CCM2 Gene
Domains & Families for CCM2 Gene
Protein Domains for CCM2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CCM2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BSQ5UniProtKB/Swiss-Prot:
CCM2_HUMAN :- The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C (harmonin) N-terminus, despite very low sequence similarity.
- Belongs to the CCM2 family.
- 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.
- Family:
-
- Belongs to the CCM2 family.
No data available for Gene Families for CCM2 Gene
Function for CCM2 Gene
Molecular function for CCM2 Gene
- UniProtKB/Swiss-Prot 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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16037064 |
Phenotypes for CCM2 Gene
- MGI mutant phenotypes for CCM2:
-
inferred from 8 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- vision/eye phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for CCM2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCM2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CCM2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCM2 gene
- Search ViGene Biosciences for CCM2
CRISPR Products
-
OriGene CRISPR knockouts for CCM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCM2
- GenScript: Design CRISPR guide RNA sequences for CCM2
miRNA Products
- Search ViGene Biosciences for CCM2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCM2
- Browse OriGene Inhibitory RNA Products For CCM2
-
ViGene Biosciences ready-to-package AAV shRNAs for CCM2 gene
Clone Products
- Sino Biological Human cDNA Clone for CCM2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CCM2
-
ViGene Biosciences adenoviral particle packaged cDNA for CCM2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CCM2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCM2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CCM2 Gene
Localization for CCM2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CCM2 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 4 |
| cytosol | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA,IEA | 16037064 |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0043234 | protein complex | IEA | -- |
Pathways & Interactions for CCM2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p38 MAPK signaling pathway (Pathway Interaction Database) | ||
| 2 | Regulation of p38-alpha and p38-beta | ||
Pathways by source for CCM2 Gene
2 BioSystems pathways for CCM2 Gene
Interacting Proteins for CCM2 Gene
Selected Interacting proteins:
Q9BSQ5-CCM2_HUMAN
ENSP00000370503
for CCM2 Gene via
IID
UniProtKB
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001570 | vasculogenesis | IMP | 14740320 |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0001885 | endothelial cell development | IEA | -- |
| GO:0001944 | vasculature development | IEA | -- |
| GO:0007229 | integrin-mediated signaling pathway | TAS | 16037064 |
No data available for SIGNOR curated interactions for CCM2 Gene
Transcripts for CCM2 Gene
mRNA/cDNA for CCM2 Gene
- (13) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (354) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CCM2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCM2
- GenScript: Design CRISPR guide RNA sequences for CCM2
miRNA Products
- Search ViGene Biosciences for CCM2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCM2
- Browse OriGene Inhibitory RNA Products For CCM2
-
ViGene Biosciences ready-to-package AAV shRNAs for CCM2 gene
Clone Products
- Sino Biological Human cDNA Clone for CCM2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
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| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
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| SP20: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP21: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP22: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
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| SP24: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP26: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP27: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP28: |
| 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: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
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| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||
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| SP17: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||||||||||||||||||
| SP23: | |||||||||||||||||||||||||||||||||||||||||||
| SP24: | |||||||||||||||||||||||||||||||||||||||||||
| SP25: | |||||||||||||||||||||||||||||||||||||||||||
| SP26: | |||||||||||||||||||||||||||||||||||||||||||
| SP27: | |||||||||||||||||||||||||||||||||||||||||||
| SP28: | - |
Expression for CCM2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
-
Gonad
- Primary Oocyte Primary Follicle
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Thyroid (Endocrine System)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for CCM2 Gene
This gene is overexpressed in Whole Blood (x4.9).
This gene is overexpressed in Peripheral blood mononuclear cells (23.6), CD8 Tcells (6.3), and Blymphocyte (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCM2 Gene
NURSA nuclear receptor signaling pathways regulating expression of CCM2 Gene:
CCM2SOURCE GeneReport for Unigene cluster for CCM2 Gene:
Hs.148272Evidence on tissue expression from TISSUES for CCM2 Gene
- Nervous system(4.8)
- Kidney(4.2)
- Liver(4.2)
- Heart(2.5)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CCM2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- eye
- head
- meninges
- neck
Abdomen:
- liver
General:
- blood
- blood vessel
- coagulation system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for CCM2
-
OriGene qPCR primer pairs for CCM2
No data available for mRNA Expression by UniProt/SwissProt for CCM2 Gene
Orthologs for CCM2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCM2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccm2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccm2 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CCM2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | LOC100856167 34 |
|
||
| CCM2 35 |
|
OneToOne | |||
| oppossum (Monodelphis domestica) |
Mammalia | CCM2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CCM2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CCM2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CCM2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccm2 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6991 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccm2 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for CCM2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CCM2 Gene
(1) SIMAP similar genes for CCM2 Gene using alignment to 5 proteins:
Variants for CCM2 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137852843 | Pathogenic, Cerebral cavernous malformations 2 (CCM2) [MIM:603284] | 45,068,563(+) | CATCC(G/T)GGCTG | intron-variant, nc-transcript-variant, reference, missense | |
| VAR_067352 | Cerebral cavernous malformations 2 (CCM2) [MIM:603284] | ||||
| VAR_067353 | Cerebral cavernous malformations 2 (CCM2) [MIM:603284] | ||||
| rs137852841 | Pathogenic | 45,064,493(+) | TGACT(C/T)AGGAG | nc-transcript-variant, reference, stop-gained | |
| rs137852842 | Pathogenic | 45,000,334(+) | GCGAT(A/G)TGGAA | intron-variant, upstream-variant-2KB, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1117709 | CNV | deletion | 24896259 |
| nsv1144173 | CNV | deletion | 24896259 |
| nsv366390 | CNV | deletion | 16902084 |
| nsv473655 | CNV | novel sequence insertion | 20440878 |
| nsv951641 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.60;
78.10% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CCM2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCM2 Gene
Disorders for CCM2 Gene
(13) MalaCards diseases for CCM2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cerebral cavernous malformations-2 |
|
|
| familial cerebral cavernous malformation 2 |
|
|
| cavernous malformation |
|
|
| cerebral cavernous malformations-1 |
|
|
| cerebral cavernous malformation, familial |
|
|
Search CCM2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CCM2_HUMAN- 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. {ECO:0000269 PubMed:14624391, ECO:0000269 PubMed:14740320, ECO:0000269 PubMed:22415356}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CCM2
No data available for Genatlas for CCM2 Gene
Publications for CCM2 Gene
- Mutations within the MGC4607 gene cause cerebral cavernous malformations. (PMID: 14740320) Denier C. … Tournier-Lasserve E. (Am. J. Hum. Genet. 2004) 3 4 22 64
- Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. (PMID: 14624391) Liquori C.L. … Marchuk D.A. (Am. J. Hum. Genet. 2003) 3 4 22 64
- Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. (PMID: 23266514) Fisher O.S. … Boggon T.J. (FEBS Lett. 2013) 3 4 64
- De Novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations. (PMID: 22415356) Mosca L. … Penco S. (J. Mol. Neurosci. 2012) 3 4 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
Products for CCM2 Gene
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CCM2 Gene
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