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    Rabep2 rabaptin, RAB GTPase binding effector protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 70314, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Rabep2provided by MGI
    Official Full Name
    rabaptin, RAB GTPase binding effector protein 2provided by MGI
    Primary source
    MGI:MGI:1917564
    See related
    Ensembl:ENSMUSG00000030727 AllianceGenome:MGI:1917564
    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
    Fra; 2610011A08Rik
    Summary
    Predicted to enable GTPase activator activity and growth factor activity. Predicted to be involved in regulation of cilium assembly. Predicted to be located in centrosome; ciliary basal body; and cytosol. Predicted to be active in intracellular membrane-bounded organelle. Orthologous to human RABEP2 (rabaptin, RAB GTPase binding effector protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 26.0), spleen adult (RPKM 24.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rabep2 in Genome Data Viewer
    Location:
    7 F3; 7 69.03 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126027596..126045079)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126428423..126445907)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein Neighboring gene STARR-seq mESC enhancer starr_20144 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133540343-133540526 Neighboring gene STARR-positive B cell enhancer ABC_E8208 Neighboring gene STARR-positive B cell enhancer ABC_E9706 Neighboring gene CD19 antigen Neighboring gene STARR-positive B cell enhancer ABC_E9707 Neighboring gene ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133618829-133619012 Neighboring gene SH2B adaptor protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E4975 Neighboring gene predicted gene, 46001

    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. Role of Genetic Variation in Collateral Circulation in the Evolution of Acute Stroke: A Multimodal Magnetic Resonance Imaging Study. Kao YJ, et al. Stroke, 2017 Mar. PMID 28188261, Free PMC Article
    2. Leptomeningeal collaterals regulate reperfusion in ischemic stroke and rescue the brain from futile recanalization. Binder NF, et al. Neuron, 2024 May 1. PMID 38412858
    3. A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes. Lee HK, et al. Am J Hum Genet, 2022 Oct 6. PMID 36167069, Free PMC Article
    4. The Rab-effector protein RABEP2 regulates endosomal trafficking to mediate vascular endothelial growth factor receptor-2 (VEGFR2)-dependent signaling. Kofler N, et al. J Biol Chem, 2018 Mar 30. PMID 29425100, Free PMC Article
    5. Role of the Fos family members, c-Fos, Fra-1 and Fra-2, in the regulation of cell motility. Tkach V, et al. Oncogene, 2003 Aug 7. PMID 12902987

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results implicate RABEP2 as a key modulator of VEGFR2 endosomal trafficking, and demonstrate the importance of RABEP2 and Rab4 for VEGFR2 signaling in endothelial cells.
      Title: The Rab-effector protein RABEP2 regulates endosomal trafficking to mediate vascular endothelial growth factor receptor-2 (VEGFR2)-dependent signaling.
    2. SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome.
      Title: SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
    3. Naturally occurring variants of Rabep2 are major determinants of variation in collateral extent and stroke severity in mice.
      Title: Variants of Rab GTPase-Effector Binding Protein-2 Cause Variation in the Collateral Circulation and Severity of Stroke.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8300

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    rab GTPase-binding effector protein 2
    Names
    fos-related antigen
    rabaptin-5beta

    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_030566.2 → NP_085043.2  rab GTPase-binding effector protein 2

      See identical proteins and their annotated locations for NP_085043.2

      Status: VALIDATED

      Source sequence(s)
      AK144836, BU514356, BY665800
      Consensus CDS
      CCDS21829.2
      UniProtKB/Swiss-Prot
      Q3UMK8, Q91WG2, Q99KN3
      UniProtKB/TrEMBL
      Q3TZJ2
      Related
      ENSMUSP00000102015.3, ENSMUST00000106407.9
      Conserved Domains (1) summary
      pfam09311
      Location:276 → 531
      Rab5-bind; Rabaptin-like protein

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      126027596..126045079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242980.2 → XP_030098840.1  rab GTPase-binding effector protein 2 isoform X1

      Conserved Domains (1) summary
      pfam09311
      Location:131 → 386
      Rab5-bind; Rabaptin-like protein

    RNA

    1. XR_378268.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91WG2.3 GenPept UniProtKB/Swiss-Prot:Q91WG2

    Gene LinkOut

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

    Chemical Information
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