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

    Gene ID: 216527, updated on 31-Jan-2019

    Summary

    Official Symbol
    Ccm2provided by MGI
    Official Full Name
    cerebral cavernous malformation 2provided by MGI
    Primary source
    MGI:MGI:2384924
    See related
    Ensembl:ENSMUSG00000000378
    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
    Also known as
    BC029157
    Expression
    Ubiquitous expression in thymus adult (RPKM 84.9), spleen adult (RPKM 58.8) and 28 other tissues See more
    Orthologs

    Genomic context

    See Ccm2 in Genome Data Viewer
    Location:
    11; 11 A1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (6546887..6596761)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (6446890..6496764)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene myosin IG Neighboring gene small nucleolar RNA host gene 15 Neighboring gene NAC alpha domain containing Neighboring gene transforming growth factor beta regulated gene 4 Neighboring gene small nucleolar RNA, H/ACA box 5C

    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 FunctionsWhat'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
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endothelial cell development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    endothelial cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endothelial tube morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    heart development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    in utero embryonic development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multicellular organism growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pericardium development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    pericardium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vasculature development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vasculogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    vasculogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    venous blood vessel morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    venous blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    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)

    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
      F7AVU1
      Related
      ENSMUSP00000105344.2, ENSMUST00000109722.8
      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
      Q8K2Y9
      Related
      ENSMUSP00000000388.8, ENSMUST00000000388.14
      Conserved Domains (2) summary
      cd13166
      Location:43237
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:296386
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      6546887..6596761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd13166
      Location:37231
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:290380
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
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