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Ccm2 cerebral cavernous malformation 2 [ Mus musculus (house mouse) ]

Gene ID: 216527, updated on 27-Nov-2024

Summary

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Official Symbol
Ccm2provided by MGI
Official Full Name
cerebral cavernous malformation 2provided by MGI
Primary source
MGI:MGI:2384924
See related
Ensembl:ENSMUSG00000000378 AllianceGenome:MGI:2384924
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Acts upstream of or within several processes, including circulatory system development; endothelial cell development; and in utero embryonic development. Part of protein-containing complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; gonad; and retina layer. Used to study cerebral cavernous malformation 2. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thymus adult (RPKM 84.9), spleen adult (RPKM 58.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ccm2 in Genome Data Viewer
Location:
11 A1; 11 4.45 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (6496887..6546761)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (6546887..6596761)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_28469 Neighboring gene small nucleolar RNA host gene 15 Neighboring gene small nucleolar RNA, H/ACA box 9 Neighboring gene predicted gene, 24000 Neighboring gene STARR-positive B cell enhancer mm9_chr11:6481502-6481803 Neighboring gene NAC alpha domain containing Neighboring gene transforming growth factor beta regulated gene 4 Neighboring gene predicted gene, 24313

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation. Gibson CC, et al. Circulation, 2015 Jan 20. PMID 25486933, Free PMC Article
  2. Novel Chronic Mouse Model of Cerebral Cavernous Malformations. Cardoso C, et al. Stroke, 2020 Apr. PMID 31992178
  3. Low fluid shear stress conditions contribute to activation of cerebral cavernous malformation signalling pathways. Li J, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Nov 1. PMID 31369819
  4. Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene). Ortiz L, et al. J Neurol, 2007 Mar. PMID 17345049
  5. Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Plummer NW, et al. Mamm Genome, 2006 Feb. PMID 16465592

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model.
    Title: Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model.
  2. Novel Chronic Mouse Model of Cerebral Cavernous Malformations.
    Title: Novel Chronic Mouse Model of Cerebral Cavernous Malformations.
  3. Loss of CCM2 is associated with Cerebral Cavernous Malformations.
    Title: Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice.
  4. CCM2 expression and it's role during ovary and testis development
    Title: Expression of CCM2 and CCM3 during mouse gonadogenesis.
  5. CCM2:MEKK3-mediated regulation of Rho-ROCK signalling is required for maintenance of neurovascular integrity, a mechanism by which CCM2 loss leads to disease.
    Title: Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex.
  6. Down-modulation of STK25, but not STK24, rescued medulloblastoma cells from NGF-induced TrkA-dependent cell death, suggesting that STK25 is part of the death-signaling pathway initiated by TrkA and CCM2.
    Title: STK25 protein mediates TrkA and CCM2 protein-dependent death in pediatric tumor cells of neural origin.
  7. The inducible deletion of Ccm2 in adult mice recapitulates the cerebral cavernous malformations-like brain lesions in humans.
    Title: Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations.
  8. Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.
    Title: Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.
  9. Rac1/osmosensing scaffold for MEKK3 contributes via phospholipase C-gamma1 to activation of the osmoprotective transcription factor NFAT5.
    Title: Rac1/osmosensing scaffold for MEKK3 contributes via phospholipase C-gamma1 to activation of the osmoprotective transcription factor NFAT5.
  10. Pdcd10 has a different role in cerebral cavernous malformation than Ccm2 and Krit1
    Title: Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC37115

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within blood vessel development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within blood vessel endothelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endothelial cell development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within endothelial cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endothelial tube morphogenesis ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in endothelium development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within heart development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart development ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within inner ear development IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within multicellular organism growth IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within pericardium development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within pericardium development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of angiogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within vasculature development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within vasculature development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vasculogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within vasculogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in vasculogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within venous blood vessel morphogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within venous blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cerebral cavernous malformations protein 2 homolog
Names
cerebral cavernous malformation 2 homolog
malcavernin
osmosensing scaffold for MEKK3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001190343.1 → NP_001177272.1  cerebral cavernous malformations protein 2 homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL603787, AL646047
    UniProtKB/TrEMBL
    Q3TM53
    Conserved Domains (2) summary
    cd13166
    Location:10 → 179
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:238 → 328
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

  2. NM_001190344.1 → NP_001177273.1  cerebral cavernous malformations protein 2 homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL603787, AL646047
    Consensus CDS
    CCDS48751.1
    UniProtKB/TrEMBL
    F7AVU1, F8WJD3, Q3TM53
    Related
    ENSMUSP00000105344.3, ENSMUST00000109722.9
    Conserved Domains (2) summary
    cd13166
    Location:2 → 173
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:232 → 322
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

  3. NM_146014.3 → NP_666126.1  cerebral cavernous malformations protein 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_666126.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL603787, AL646047
    Consensus CDS
    CCDS24422.1
    UniProtKB/Swiss-Prot
    Q5SUA3, Q8K2Y9
    Related
    ENSMUSP00000000388.9, ENSMUST00000000388.15
    Conserved Domains (2) summary
    cd13516
    Location:291 → 386
    HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
    cd13166
    Location:43 → 237
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    6496887..6546761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514622.3 → XP_006514685.1  cerebral cavernous malformations protein 2 homolog isoform X1

    Conserved Domains (2) summary
    cd13516
    Location:285 → 380
    HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
    cd13166
    Location:37 → 231
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

  2. XM_036156517.1 → XP_036012410.1  cerebral cavernous malformations protein 2 homolog isoform X2

    Conserved Domains (2) summary
    pfam16545
    Location:99 → 189
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
    cl17171
    Location:1 → 40
    PH-like; Pleckstrin homology-like domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K2Y9.1 GenPept UniProtKB/Swiss-Prot:Q8K2Y9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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