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    Ccm2l cerebral cavernous malformation 2-like [ Mus musculus (house mouse) ]

    Gene ID: 228788, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ccm2lprovided by MGI
    Official Full Name
    cerebral cavernous malformation 2-likeprovided by MGI
    Primary source
    MGI:MGI:2385159
    See related
    Ensembl:ENSMUSG00000027474 AllianceGenome:MGI:2385159
    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 heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of fibroblast growth factor production. Is expressed in several structures, including cardiovascular system; immune system; liver; lung; and retina blood vessel. Orthologous to human CCM2L (CCM2 like scaffold protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung adult (RPKM 34.7), adrenal adult (RPKM 9.7) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 H1; 2 75.41 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (152907857..152923655)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (153065937..153081735)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr2:152840956-152841257 Neighboring gene p53 and DNA damage regulated 1 Neighboring gene X-linked Kx blood group related 7 Neighboring gene predicted gene, 32286 Neighboring gene hemopoietic cell kinase Neighboring gene STARR-positive B cell enhancer ABC_E1605 Neighboring gene STARR-seq mESC enhancer starr_06087 Neighboring gene STARR-seq mESC enhancer starr_06088 Neighboring gene transmembrane 9 superfamily member 4 Neighboring gene protein transport protein Sec61 subunit gamma pseudogene

    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. CCM2L (Cerebral Cavernous Malformation 2 Like) Deletion Aggravates Cerebral Cavernous Malformation Through Map3k3-KLF Signaling Pathway. Choi JP, et al. Stroke, 2021 Apr. PMID 33657857
    2. ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway. Rosen JN, et al. Dev Biol, 2013 Apr 1. PMID 23328253, Free PMC Article
    3. Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. Zheng X, et al. Dev Cell, 2012 Aug 14. PMID 22898778, Free PMC Article
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCM2L (Cerebral Cavernous Malformation 2 Like) Deletion Aggravates Cerebral Cavernous Malformation Through Map3k3-KLF Signaling Pathway.
      Title: CCM2L (Cerebral Cavernous Malformation 2 Like) Deletion Aggravates Cerebral Cavernous Malformation Through Map3k3-KLF Signaling Pathway.
    2. ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway.
      Title: ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway.
    3. Loss of CCM2L reduces endocardial growth factor expression and impairs tumor growth and wound healing
      Title: Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Homology

    Clone Names

    • MGC19360

    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 cardiac atrium morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cardiac muscle tissue growth IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of fibroblast growth factor production IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in heart morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of homotypic cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of homotypic cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of fibroblast growth factor production IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular trabecula myocardium morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within wound healing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    cerebral cavernous malformations 2 protein-like
    Names
    CCM2-like

    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_001372363.1 → NP_001359292.1  cerebral cavernous malformations 2 protein-like isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL928862
      Consensus CDS
      CCDS89568.1
      UniProtKB/TrEMBL
      A0A571BDK9
      Related
      ENSMUSP00000158754.2, ENSMUST00000238488.2
      Conserved Domains (2) summary
      cd13166
      Location:41 → 340
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:399 → 492
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

    2. NM_145536.3 → NP_663511.2  cerebral cavernous malformations 2 protein-like isoform 2

      See identical proteins and their annotated locations for NP_663511.2

      Status: VALIDATED

      Source sequence(s)
      AL928862
      Consensus CDS
      CCDS50755.1
      UniProtKB/Swiss-Prot
      Q8VCC6
      Related
      ENSMUSP00000105425.2, ENSMUST00000109800.2
      Conserved Domains (1) summary
      cd13166
      Location:41 → 340
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

    RNA

    1. NR_164169.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL928862
      Related
      ENSMUST00000127898.9

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      152907857..152923655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499326.3 → XP_006499389.2  cerebral cavernous malformations 2 protein-like isoform X1

      Conserved Domains (2) summary
      cd13166
      Location:41 → 339
      PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
      pfam16545
      Location:398 → 491
      CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

    2. XM_006499328.3 → XP_006499391.2  cerebral cavernous malformations 2 protein-like isoform X2

      Conserved Domains (1) summary
      cl17171
      Location:41 → 184
      PH-like; Pleckstrin homology-like domain

    3. XM_036161481.1 → XP_036017374.1  cerebral cavernous malformations 2 protein-like isoform X3

      Conserved Domains (1) summary
      cl17171
      Location:41 → 184
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_866270.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCC6.2 GenPept UniProtKB/Swiss-Prot:Q8VCC6

    Gene LinkOut

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

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