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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

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