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    Ccm2 CCM2 scaffold protein [ Rattus norvegicus (Norway rat) ]

    Gene ID: 305505, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Ccm2provided by RGD
    Official Full Name
    CCM2 scaffold proteinprovided by RGD
    Primary source
    RGD:1308067
    See related
    EnsemblRapid:ENSRNOG00000060825 AllianceGenome:RGD:1308067
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to be involved in heart development and vasculogenesis. Predicted to act upstream of or within several processes, including circulatory system development; endothelium development; and in utero embryonic development. Predicted to be located in mitochondrion. Predicted to be part of protein-containing complex. 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, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 113.5), Spleen (RPKM 82.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ccm2 in Genome Data Viewer
    Location:
    14q21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (85632338..85678016)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (81418418..81464114)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (86812728..86859408)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene myosin IG Neighboring gene uncharacterized LOC102547700 Neighboring gene small nucleolar RNA SNORA9 Neighboring gene uncharacterized protein C11orf98 homolog Neighboring gene NAC alpha domain containing Neighboring gene small nucleolar RNA SNORA5 Neighboring gene transforming growth factor beta regulator 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Liquori CL, et al. Am J Hum Genet, 2007 Jan. PMID 17160895, Free PMC Article
    2. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Denier C, et al. Am J Hum Genet, 2004 Feb. PMID 14740320, Free PMC Article
    3. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Zawistowski JS, et al. Hum Mol Genet, 2005 Sep 1. PMID 16037064
    4. p38 MAP-kinases pathway regulation, function and role in human diseases. Cuenda A, et al. Biochim Biophys Acta, 2007 Aug. PMID 17481747
    5. Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway. Kleaveland B, et al. Nat Med, 2009 Feb. PMID 19151727, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within blood vessel development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within blood vessel endothelial cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cell-cell junction organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within endothelial cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within endothelial tube morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within inner ear development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pericardium development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within vasculature development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vasculogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vasculogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vasculogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within venous blood vessel morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cerebral cavernous malformations 2 protein
    Names
    CCM2 scaffolding protein
    cerebral cavernous malformation 2
    malcavernin

    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_001126275.1 → NP_001119747.1  cerebral cavernous malformations 2 protein

      See identical proteins and their annotated locations for NP_001119747.1

      Status: PROVISIONAL

      Source sequence(s)
      BC160889
      UniProtKB/TrEMBL
      A0A0G2K1S9, A0A8I5Y9E2, B1H273, F1LQ68
      Related
      ENSRNOP00000071971.2, ENSRNOT00000090360.3
      Conserved Domains (2) summary
      cd13166
      Location:43 → 237
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:296 → 386
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086032.1 Reference GRCr8

      Range
      85632338..85678016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039092067.2 → XP_038947995.1  cerebral cavernous malformations 2 protein isoform X2

      UniProtKB/TrEMBL
      A0A8I6B6E1
      Related
      ENSRNOP00000097841.1, ENSRNOT00000118038.2
      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. XM_006251318.5 → XP_006251380.1  cerebral cavernous malformations 2 protein isoform X1

      See identical proteins and their annotated locations for XP_006251380.1

      UniProtKB/TrEMBL
      A0A0G2JZF5, A0A8I5Y9E2
      Related
      ENSRNOP00000071026.1, ENSRNOT00000088611.3
      Conserved Domains (2) summary
      cd13166
      Location:37 → 231
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:290 → 380
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
    Nucleotide Protein Strain
    Heading Accession and Version

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