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Aliases for CCM2 Gene

Aliases for CCM2 Gene

  • Cerebral Cavernous Malformation 2 2 3
  • Malcavernin 2 3 4
  • C7orf22 3 4 6
  • Cerebral Cavernous Malformations 2 Protein 3
  • Chromosome 7 Open Reading Frame 22 2
  • PP10187 3
  • MGC4067 6
  • OSM 3

External Ids for CCM2 Gene

Previous Symbols for CCM2 Gene

  • C7orf22

Summaries for CCM2 Gene

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 cavernous malformations-2 and cerebral angioma. Among its related pathways are PI3K-Akt signaling pathway and Akt Signaling. 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).

Gene Wiki entry for CCM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCM2 Gene

Genomics for CCM2 Gene

Genomic Location for CCM2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCM2 Gene

Regulatory Elements 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for CCM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCM2 Gene

Proteomics data for CCM2 Gene at MOPED

Post-translational modifications for CCM2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys96

No data available for DME Specific Peptides for CCM2 Gene

Domains for CCM2 Gene

Protein Domains for CCM2 Gene

UniProtKB/Swiss-Prot:

CCM2_HUMAN
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.:
    • Q9BSQ5
  • Contains 1 PID domain.:
    • Q9BSQ5
Family:
  • Belongs to the CCM2 family.:
    • Q9BSQ5
genes like me logo Genes that share domains with CCM2: view

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).

Gene Ontology (GO) - Molecular Function for CCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16037064
genes like me logo Genes that share ontologies with CCM2: view
genes like me logo Genes that share phenotypes with CCM2: view

Animal Models for CCM2 Gene

MGI Knock Outs for CCM2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CCM2 Gene

Localization for CCM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCM2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCM2 Gene COMPARTMENTS Subcellular localization image for CCM2 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16037064
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with CCM2: view

Pathways for CCM2 Gene

genes like me logo Genes that share pathways with CCM2: view

Gene Ontology (GO) - Biological Process for CCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development --
GO:0001570 vasculogenesis IMP 14740320
GO:0001701 in utero embryonic development IEA --
GO:0001885 endothelial cell development IEA --
GO:0001944 vasculature development --
genes like me logo Genes that share ontologies with CCM2: view

Transcripts for CCM2 Gene

Unigene Clusters for CCM2 Gene

Cerebral cavernous malformation 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCM2 Gene

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: - - - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - -
SP14:
SP15: - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - - -
SP17: - - - - - - - - -
SP18:
SP19:
SP20: - - - - - - - - - - - - - - -
SP21: - - - - - - - -
SP22: - - - - - -
SP23: - - - - - -
SP24: - -
SP25: - - - - - -
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: - - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - -
SP7: - - - - -
SP8: - - - - - - -
SP9: - - - - - - - - -
SP10: - - - -
SP11:
SP12:
SP13: - - - -
SP14: - - - - -
SP15:
SP16:
SP17: - - - - - - - - -
SP18: - - - - - -
SP19: - - -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28: -

Relevant External Links for CCM2 Gene

GeneLoc Exon Structure for
CCM2
ECgene alternative splicing isoforms for
CCM2

Expression for CCM2 Gene

mRNA expression in normal human tissues for CCM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCM2 Gene

This gene is overexpressed in Whole Blood (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCM2 Gene

SOURCE GeneReport for Unigene cluster for CCM2 Gene Hs.148272

genes like me logo Genes that share expressions with CCM2: view

Orthologs for CCM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCM2 36
  • 99.39 (n)
  • 99.31 (a)
CCM2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCM2 36
  • 88.89 (n)
  • 91.83 (a)
CCM2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCM2 37
  • 87 (a)
OneToOne
LOC100856167 36
  • 87.23 (n)
  • 90.83 (a)
mouse
(Mus musculus)
Mammalia Ccm2 36
  • 89.53 (n)
  • 94.04 (a)
Ccm2 16
Ccm2 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCM2 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCM2 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccm2 36
  • 88.91 (n)
  • 94.04 (a)
chicken
(Gallus gallus)
Aves CCM2 36
  • 80.23 (n)
  • 85.98 (a)
CCM2 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCM2 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6991 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ccm2 36
  • 76.02 (n)
  • 80.92 (a)
zebrafish
(Danio rerio)
Actinopterygii ccm2 36
  • 70.99 (n)
  • 77.31 (a)
ccm2 37
  • 73 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToMany
Species with no ortholog for CCM2:
  • 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)

Evolution for CCM2 Gene

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

Paralogs for CCM2 Gene

Paralogs for CCM2 Gene

Selected SIMAP similar genes for CCM2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CCM2: view

Variants for CCM2 Gene

Sequence variations from dbSNP and Humsavar for CCM2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1195 -- 45,059,851(-) tacct(A/G)tgaag intron-variant
rs7804 -- 45,076,174(+) CCCGG(C/T)GCAGA utr-variant-3-prime, nc-transcript-variant
rs726866 -- 45,048,219(-) CAAAA(A/C)AACAA intron-variant
rs868191 -- 45,024,588(+) GGTTT(G/T)TAGAG intron-variant
rs884082 -- 45,024,441(+) TTGCT(C/G)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCM2 Gene

Variant ID Type Subtype PubMed ID
nsv366390 CNV Loss 16902084
nsv888001 CNV Loss 21882294

Relevant External Links for CCM2 Gene

HapMap Linkage Disequilibrium report
CCM2
Human Gene Mutation Database (HGMD)
CCM2

Disorders for CCM2 Gene

(1) OMIM Diseases for CCM2 Gene (607929)

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.

(2) University of Copenhagen DISEASES for CCM2 Gene

(5) Novoseek inferred disease relationships for CCM2 Gene

Disease -log(P) Hits PubMed IDs
cerebral cavernous malformations 98.8 22
hemorrhagic stroke 84.7 1
vascular anomaly 76.7 1
malformation venous 71.7 1
klippel-trenaunay syndrome 60.6 1

Relevant External Links for CCM2

GeneTests
CCM2
GeneReviews
CCM2
Genetic Association Database (GAD)
CCM2
Human Genome Epidemiology (HuGE) Navigator
CCM2
genes like me logo Genes that share disorders with CCM2: view

Publications for CCM2 Gene

  1. 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 23
  2. Mutations within the MGC4607 gene cause cerebral cavernous malformations. (PMID: 14740320) Denier C. … Tournier-Lasserve E. (Am. J. Hum. Genet. 2004) 3 4 23
  3. Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. (PMID: 12774951) DuprAc N. … Rouleau G.A. (Can J Neurol Sci 2003) 3 23
  4. Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. (PMID: 16239636) Guclu B. … Gunel M. (Stroke 2005) 3 23
  5. CCM2 expression parallels that of CCM1. (PMID: 16373645) Seker A. … Gunel M. (Stroke 2006) 3 23

Products for CCM2 Gene

Sources for CCM2 Gene

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