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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.

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