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Ccm2l CCM2 like scaffold protein [ Rattus norvegicus (Norway rat) ]

Gene ID: 311550, updated on 17-Aug-2024

Summary

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Official Symbol
Ccm2lprovided by RGD
Official Full Name
CCM2 like scaffold proteinprovided by RGD
Primary source
RGD:1305202
See related
EnsemblRapid:ENSRNOG00000009191 AllianceGenome:RGD:1305202
Gene type
protein coding
RefSeq status
MODEL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
RGD1305202
Summary
Predicted to be involved in heart morphogenesis. Predicted to act upstream of or within several processes, including heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of fibroblast growth factor production. Orthologous to human CCM2L (CCM2 like scaffold protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Lung (RPKM 56.1), Heart (RPKM 22.7) and 8 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Ccm2l in Genome Data Viewer
Location:
3q41
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (161993717..162009372)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (141533470..141549136)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (148541404..148557464)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene p53 and DNA damage regulated 1 Neighboring gene XK related 7 Neighboring gene uncharacterized LOC108350503 Neighboring gene HCK proto-oncogene, Src family tyrosine kinase Neighboring gene uncharacterized LOC102554664 Neighboring gene U6 spliceosomal RNA

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 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. 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
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RGD

Process Evidence Code Pubs
acts_upstream_of_or_within cardiac atrium morphogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cardiac muscle tissue growth ISO
Inferred from Sequence Orthology
more info
  
involved_in heart morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of homotypic cell-cell adhesion ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of homotypic cell-cell adhesion ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of fibroblast growth factor production ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within ventricular trabecula myocardium morphogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within wound healing ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_086021.1 Reference GRCr8

    Range
    161993717..162009372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039106863.2 → XP_038962791.1  cerebral cavernous malformations 2 protein-like isoform X1

    UniProtKB/TrEMBL
    A0A8I5ZSU2
    Related
    ENSRNOP00000081530.1, ENSRNOT00000120254.2
    Conserved Domains (2) summary
    cd13166
    Location:41 → 340
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:399 → 489
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

  2. XM_039106864.2 → XP_038962792.1  cerebral cavernous malformations 2 protein-like isoform X1

    UniProtKB/TrEMBL
    A0A8I5ZSU2
    Conserved Domains (2) summary
    cd13166
    Location:41 → 340
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:399 → 489
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

  3. XM_008762395.4 → XP_008760617.2  cerebral cavernous malformations 2 protein-like isoform X4

    UniProtKB/TrEMBL
    D3ZAM4
    Related
    ENSRNOP00000012187.7, ENSRNOT00000012187.8
    Conserved Domains (1) summary
    cd13166
    Location:41 → 340
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

  4. XM_039106866.2 → XP_038962794.1  cerebral cavernous malformations 2 protein-like isoform X3

    Conserved Domains (1) summary
    cd13166
    Location:41 → 340
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

  5. XM_039106865.2 → XP_038962793.1  cerebral cavernous malformations 2 protein-like isoform X2

    Conserved Domains (2) summary
    cd13166
    Location:1 → 299
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:358 → 448
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

RNA

  1. XR_010064998.1 RNA Sequence

  2. XR_005502970.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

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Chemical Information
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Research Materials