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

    Gene ID: 216527, updated on 26-Sep-2022

    Summary

    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; gut; 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, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 84.9), spleen adult (RPKM 58.8) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Ccm2 in Genome Data Viewer
    Location:
    11; 11 A1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 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 small nucleolar RNA host gene 15 Neighboring gene small nucleolar RNA, H/ACA box 9 Neighboring gene predicted gene, 24000 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IC
    Inferred by Curator
    more info
    PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 IC
    Inferred by Curator
    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
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001190343.1NP_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
      Conserved Domains (2) summary
      cd13166
      Location:10179
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:238328
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
    2. NM_001190344.1NP_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
      A0A8C6HUA0, F7AVU1, F8WJD3
      Related
      ENSMUSP00000105344.3, ENSMUST00000109722.9
      Conserved Domains (2) summary
      cd13166
      Location:2173
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:232322
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
    3. NM_146014.3NP_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
      UniProtKB/TrEMBL
      A0A6P5QPX5, A0A8C6HUZ5
      Related
      ENSMUSP00000000388.9, ENSMUST00000000388.15
      Conserved Domains (2) summary
      cd13516
      Location:291386
      HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
      cd13166
      Location:43237
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_006514622.3XP_006514685.1  cerebral cavernous malformations protein 2 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8C6HU80
      Conserved Domains (2) summary
      cd13516
      Location:285380
      HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
      cd13166
      Location:37231
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    2. XM_036156517.1XP_036012410.1  cerebral cavernous malformations protein 2 homolog isoform X2

      Conserved Domains (2) summary
      pfam16545
      Location:99189
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
      cl17171
      Location:140
      PH-like; Pleckstrin homology-like domain