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RANBP2 Gene

protein-coding   GIFtS: 70
GCID: GC02P109335

RAN Binding Protein 2

(Previous name: acute necrotizing encephalopathy 1 (autosomal dominant))
(Previous symbol: ANE1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RAN Binding Protein 21 2     P2702
ANE11 2 5     TRP12
NUP3582 3 5     TRP22
Acute Necrotizing Encephalopathy 1 (Autosomal Dominant)1 2     E3 SUMO-Protein Ligase RanBP22
Nuclear Pore Complex Protein Nup3582 3     Nucleoporin 3582
Nucleoporin Nup3582 3     Transformation-Related Protein 22
Ran-Binding Protein 22 3     EC 6.3.2.-3
358 KDa Nucleoporin2 3     RanBP23
IIAE32 5     p2703
ADANE2     EC 5.2.1.88

External Ids:    HGNC: 98481   Entrez Gene: 59032   Ensembl: ENSG000001532017   OMIM: 6011815   UniProtKB: P497923   

Export aliases for RANBP2 gene to outside databases

Previous GC identifers: GC02P107241 GC02P107814 GC02P108911 GC02P108957 GC02P108794 GC02P108702 GC02P102934


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RANBP2 Gene:
RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is
thought to control a variety of cellular functions through its interactions with other proteins. This gene
encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant
scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein
directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target
SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest
that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated
in a gene cluster that lies in a hot spot for recombination on chromosome 2q. (provided by RefSeq, Jul 2008)

GeneCards Summary for RANBP2 Gene:
RANBP2 (RAN binding protein 2) is a protein-coding gene. Diseases associated with RANBP2 include encephalopathy, acute, infection-induced, 4, and inflammatory myofibroblastic tumor. GO annotations related to this gene include Ran GTPase binding and ligase activity. An important paralog of this gene is PPIE.

UniProtKB/Swiss-Prot: RBP2_HUMAN, P49792
Function: E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport
factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a
docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export
pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is
essential for the proper assembly of PML-NB

Gene Wiki entry for RANBP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RANBP2 gene promoter:
         c-Fos   Tal-1   AP-1   Pax-5   p53   POU3F1   Nkx2-5   E47   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRANBP2 promoter sequence
   Search Chromatin IP Primers for RANBP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RANBP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q12.3   Ensembl cytogenetic band:  2q12.3   HGNC cytogenetic band: 2q13

RANBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RANBP2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P109335:  view genomic region     (about GC identifiers)

Start:
109,335,937 bp from pter      End:
109,402,267 bp from pter
Size:
66,331 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RBP2_HUMAN, P49792 (See protein sequence)
Recommended Name: E3 SUMO-protein ligase RanBP2  
Size: 3224 amino acids; 358199 Da
Subunit: Forms a tight complex with RANBP1 and UBE2I. Interacts with SUMO1 but not SUMO2. Interacts with PARK2.
Interacts with sumoylated RANGAP1. Interacts with CDCA8. Interacts with PML (isoform PML-4)
Selected PDB 3D structures from and Proteopedia for RANBP2 (see all 10):
1RRP (3D)        1XKE (3D)        1Z5S (3D)        3UIN (3D)        3UIO (3D)        3UIP (3D)    
Secondary accessions: Q13074 Q15280 Q53TE2 Q59FH7

Explore the universe of human proteins at neXtProt for RANBP2: NX_P49792

Explore proteomics data for RANBP2 at MOPED

Post-translational modifications: 

  • Polyubiquitinated by PARK2, which leads to proteasomal degradation1
  • The the inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of
    interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative
    stress reduces the permeability of the NPC (By similarity)1
  • Ubiquitination2 at Lys106, Lys798, Lys2061, Lys2125, Lys2156, Lys2181, Lys2358, Lys2396, Lys2424, Lys2522,
                                 Lys2959
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RANBP2 (P49792) (see all 6)
     LCTGEKG  PRTAENF  KFEDENF  GLLSMAN 


    See RANBP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006258.3  
    ENSEMBL proteins: 
     ENSP00000283195   ENSP00000398970  
    Reactome Protein details: P49792

    RANBP2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    Selected InterPro protein domains (see all 10):
     IPR000156 Ran_bind_dom
     IPR011990 TPR-like_helical
     IPR002130 Cyclophilin-type_PPIase_dom
     IPR011993 PH_like_dom
     IPR001440 TPR_1

    Graphical View of Domain Structure for InterPro Entry P49792

    ProtoNet protein and cluster: P49792

    3 Blocks protein domains:
    IPB000156 RanBP1 domain
    IPB001876 Zn-finger
    IPB002130 Peptidyl-prolyl cis-trans isomerase


    UniProtKB/Swiss-Prot: RBP2_HUMAN, P49792
    Domain: Contains a dozen F-X-F-G repeats in the C-terminal half
    Domain: The PPIase cyclophilin-type domain has high structural similarity with PPIA, but has extremely low and
    barely detectable proline isomerase activity (in vitro) (PubMed:23353830). Only about half of the residues that
    surround the PPIA active site cleft are conserved
    Similarity: Contains 1 PPIase cyclophilin-type domain
    Similarity: Contains 4 RanBD1 domains
    Similarity: Contains 8 RanBP2-type zinc fingers
    Similarity: Contains 7 TPR repeats


    RANBP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBP2_HUMAN, P49792
    Function: E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport
    factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a
    docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export
    pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is
    essential for the proper assembly of PML-NB

         Genatlas biochemistry entry for RANBP2:
    Ran (Ras-related small nuclear protein)component of the nuclear pore complex (NPC),involved in cell-cycle
    progression,nucleocytoplasmic transport,pre-mRNA processing

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 5.2.1.82

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0003755peptidyl-prolyl cis-trans isomerase activity IEA--
    GO:0005515protein binding IPI16314522
    GO:0008270zinc ion binding IEA--
    GO:0008536Ran GTPase binding TAS7603572
         
    RANBP2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for RANBP2:
     Decreased DCP1a protein expres  Decreased p24 protein expressi  Decreased viability of wild-ty  Nuclear 40S maturation defects 
     Nuclear pre-40S maturation def 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ranbp2):
     cellular  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 
     tumorigenesis  vision/eye 

    RANBP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ranbp2tm1.1Jvd for RANBP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RANBP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RANBP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RANBP2

    miRNA
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    miRTarBase miRNAs that target RANBP2:
    hsa-mir-421 (MIRT039354), hsa-let-7g-5p (MIRT046567), hsa-let-7a-5p (MIRT052536), hsa-mir-125b-5p (MIRT046041), hsa-mir-708-5p (MIRT037743), hsa-mir-186-5p (MIRT045244), hsa-mir-423-3p (MIRT042469), hsa-mir-106b-3p (MIRT038578), hsa-mir-92a-3p (MIRT049119), hsa-let-7e-5p (MIRT051582)

    Block miRNA regulation of human, mouse, rat RANBP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RANBP2 (see all 63):
    hsa-miR-142-5p hsa-miR-549 hsa-miR-100* hsa-miR-607 hsa-let-7d hsa-miR-411 hsa-miR-4272 hsa-miR-3074-3p
    SwitchGear 3'UTR luciferase reporter plasmidRANBP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RANBP2

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    GenScript: all cDNA clones in your preferred vector: RANBP2 (NM_006267)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RANBP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBP2_HUMAN, P49792: Nucleus. Nucleus membrane. Nucleus, nuclear pore complex. Note=Detected in diffuse and
    discrete intranuclear foci. Cytoplasmic filaments
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton1
    golgi apparatus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005643nuclear pore IDA17098863
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0031965nuclear membrane IDA11839768
    GO:0042405nuclear inclusion body IDA11839768

    RANBP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RANBP2 About   (see all 23)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    5Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RANBP2
        Ran Pathway
    SUMO Pathway

    3 GeneGo (Thomson Reuters) Pathways for RANBP2
        Proteolysis Putative SUMO-1 pathway
    Transcription P53 signaling pathway
    DNA damage Role of SUMO in p53 regulation

    3 BioSystems Pathways for RANBP2
        Signaling events mediated by HDAC Class I
    Sumoylation by RanBP2 regulates transcriptional repression
    Signaling events mediated by HDAC Class II

    Selected Reactome Pathways for RANBP2 (see all 9)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Pore Complex (NPC) Disassembly
    Nuclear import of Rev protein
    Resolution of Sister Chromatid Cohesion


    1 Kegg Pathway  (Kegg details for RANBP2):
        RNA transport

    UniProtKB/Swiss-Prot: RBP2_HUMAN, P49792
    Pathway: Protein modification; protein sumoylation


    RANBP2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including RANBP2: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RANBP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RANBP2 (P497921, 2, 3 ENSP000002831954) via UniProtKB, MINT, STRING, and/or I2D (see all 933)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANGAP1P460602, 3, ENSP000003485774MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000348577
    PARK2O602601, 3, ENSP000003558654EBI-973138,EBI-716346 I2D: score=3 STRING: ENSP00000355865
    MVPQ147642, 3MINT-7945693 MINT-7947479 I2D: score=2 
    NUP62P371982, 3, ENSP000003055034MINT-4301750 I2D: score=2 STRING: ENSP00000305503
    PLECQ151492, 3MINT-7945693 MINT-7947479 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006457protein folding IEA--
    GO:0006606protein import into nucleus TAS7603572
    GO:0007077mitotic nuclear envelope disassembly TAS--

    RANBP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RANBP2 (RBP2)

    1 HMDB Compound for RANBP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for RANBP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gppnhp 54.5 1 10078529 (1)
    leptomycin b 54.4 1 10601307 (1)
    gtp 51.6 9 7593180 (2), 10995230 (2), 10078529 (1), 9398678 (1) (see all 5)
    zinc 5.08 8 10601307 (5), 11553612 (1), 8603673 (1)



    RANBP2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RANBP2 gene: 
    NM_006267.4  

    Unigene Cluster for RANBP2:

    RAN binding protein 2
    Hs.199561  [show with all ESTs]
    Unigene Representative Sequence: NM_006267
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283195(uc002tem.4) ENST00000425282 ENST00000495924 ENST00000495506

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate RANBP2 (see all 63):
    hsa-miR-142-5p hsa-miR-549 hsa-miR-100* hsa-miR-607 hsa-let-7d hsa-miR-411 hsa-miR-4272 hsa-miR-3074-3p
    SwitchGear 3'UTR luciferase reporter plasmidRANBP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RANBP2
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    GenScript: all cDNA clones in your preferred vector: RANBP2 (NM_006267)
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    Additional mRNA sequence: 

    AB209483.1 AK025462.1 AK025711.1 AK026993.1 AY170822.1 D42063.1 U19240.1 U19248.1 

    Selected DOTS entries (see all 26):

    DT.87078957  DT.95274711  DT.95149140  DT.414030  DT.120953339  DT.92035289  DT.100827367  DT.120953361 
    DT.101966955  DT.100827358  DT.120953345  DT.95079887  DT.95274712  DT.100763923  DT.120953300  DT.120953310 
    DT.120953369  DT.91655752  DT.92453559  DT.95274705  DT.99958483  DT.120933593  DT.120953368  DT.120954986 

    Selected AceView cDNA sequences (see all 336):

    AI357671 CB215465 CB146749 BU686092 AK025711 AI202745 BP342576 BX359210 
    AA211395 AI674244 BU685501 CN479464 AA683138 CA942021 AI093295 BU172418 
    BX473927 NM_006267 AL700105 BM978524 AI146981 AA169406 BG681922 CK724987 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RANBP2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b ^ 19
    SP1:                                                                          -                 -     -                                       
    SP2:                                                                          -                       -                                       
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for RANBP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RANBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGAAATA
    RANBP2 Expression
    About this image


    RANBP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Gonad
             XY Germ Cells Testis Cord
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Hypothalamus
    RANBP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RANBP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.199561
        Pathway & Disease-focused RT2 Profiler PCR Array including RANBP2: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RANBP2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RANBP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RANBP2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ranbp25 RAN binding protein 2   --   10 (29.34 cM) 58446852 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    65(a)
    many ↔ many
    1(135763887-135793418)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    68(a)
    1 → many
    3(107454117-107504389)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.72852 Xenopus laevis transcribed sequence with weak similarity more 75.67(n)    BX845252.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.296872 Transcribed sequence with weak similarity to protein more 70.64(n)    BQ449922.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp13 protein folding cyclin-dependent
    protein kinase, more
    66(a)   14B12   --
    worm
    (Caenorhabditis elegans)
    Secernentea T22F3.126
    Y17G9B.46
    Protein Y17G9B.4 (Y17G9B.4) mRNA, complete cds
    39(a)
    34(a)
    many ↔ many
    many ↔ many
    V(3589029-3592199) WBGene00044705
    IV(4752094-4753230) WBGene00021201


    ENSEMBL Gene Tree for RANBP2 (if available)
    TreeFam Gene Tree for RANBP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RANBP2 gene
    PPIE2  PPIAL4C2  RGPD62  PPIF2  PPIA2  PPIAL4D2  PPIAL4A2  RGPD22  
    RGPD42  PPIAL4G2  RGPD32  RGPD12  PPIAL4B2  RGPD52  RGPD82  
    Selected SIMAP similar genes for RANBP2 using alignment to 2 protein entries:     RBP2_HUMAN (see all proteins) (see all similar genes):
    PPIF    PPIA    RGPD5    PPIAL4A    PPIAL4B    PPIAL4C
    PPIAL4G    PPIAL4D    PPIE    RGPD6    PPIB    PPIC
    PPIH    PPIL6    RANBP1    PPID    PPIL1    RGPD8

    RANBP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RANBP2 (see all 1767)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549994
    Encephalopathy, acute, infection-induced, 3 (IIAE3)4--see VAR_0549992 I V mis40--------
    VAR_0549984
    Encephalopathy, acute, infection-induced, 3 (IIAE3)4--see VAR_0549982 T I mis40--------
    VAR_0549974
    Encephalopathy, acute, infection-induced, 3 (IIAE3)4--see VAR_0549972 T M mis40--------
    rs1842245071,2
    C--108984052(+) TGGGTC/TACACA 1 -- us2k10--------
    rs1888040891,2
    --108984095(+) CTTTTA/GTTCAC 1 -- us2k10--------
    rs8265411,2
    C,F,A--108984110(-) TCAACA/CATATT 1 -- us2k13Minor allele frequency- C:0.15NA 124
    rs14275371,2
    A--108984252(-) GTTGAC/TATTTT 1 -- us2k10--------
    rs14275361,2
    A--108984329(-) TGAGAA/GCCTTT 1 -- us2k10--------
    rs2000085511,2
    --108984339(+) CTATT-/AAAAAA 1 -- us2k10--------
    rs14275351,2
    A--108984435(-) ATTTTC/GAGCCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RANBP2 (109335937 - 109402267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RANBP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720498CNV Deletion23290073

    Human Gene Mutation Database (HGMD): RANBP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RANBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for RANBP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601181   
    OMIM disorders: 608033  
    UniProtKB/Swiss-Prot: RBP2_HUMAN, P49792
  • Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033]: A rapidly progressive encephalopathy
    manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy
    children after common viral infections such as influenza and parainfluenza, without evidence of viral infection
    of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals
    characteristic symmetric lesions present in the thalami, pons and brainstem. Note=The disease is caused by
    mutations affecting the gene represented in this entry. Mutations in the RANBP2 gene predispose to IIAE3, but by
    themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors
    are required (PubMed:19118815)

  • 15 diseases for RANBP2:    
    About MalaCards
    encephalopathy, acute, infection-induced, 4    inflammatory myofibroblastic tumor    uveitis    astrocytoma
    multiple myeloma    myeloma    influenza    melanoma
    hiv-1    colorectal cancer    lung cancer    hepatitis
    leukemia    prostatitis    neuronitis


    RANBP2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    2 Novoseek inferred disease relationships for RANBP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 18394551 (1), 18701132 (1)
    melanoma 0 2 15980237 (1)

    Genetic Association Database (GAD): RANBP2
    Human Genome Epidemiology (HuGE) Navigator: RANBP2 (1 document)

    Export disorders for RANBP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RANBP2 gene, integrated from 10 sources (see all 183):
    (articles sorted by number of sources associating them with RANBP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. (PubMed id 19118815)1, 2, 3, 9 Neilson D.E.... Warman M.L. (Am. J. Hum. Genet. 2009)
    2. The Ran/TC4 GTPase-binding domain: identification by expression cloning and characterization of a conserved sequence motif. (PubMed id 7724562)1, 2, 3 Beddow A.L.... Macara I.G. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    3. Unique binding interactions among Ubc9, SUMO and RanBP2 reveal a mechanism for SUMO paralog selection. (PubMed id 15608651)1, 2, 9 Tatham M.H.... Hay R.T. (Nat. Struct. Mol. Biol. 2005)
    4. Parkin ubiquitinates and promotes the degradation of RanBP2. (PubMed id 16332688)1, 2, 9 Um J.W.... Chung K.C. (J. Biol. Chem. 2006)
    5. Solution structure of the Ran-binding domain 2 of RanBP2 and its interaction with the C terminus of Ran. (PubMed id 15826666)1, 2, 9 Geyer J.P.... Kalbitzer H.R. (J. Mol. Biol. 2005)
    6. A giant nucleopore protein that binds Ran/TC4. (PubMed id 7603572)1, 2, 9 Yokoyama N.... Aebi U. (Nature 1995)
    7. The nucleoporin RanBP2 has SUMO1 E3 ligase activity. (PubMed id 11792325)1, 2, 9 Pichler A.... Melchior F. (Cell 2002)
    8. Structure of a Ran-binding domain complexed with Ran bound to a GTP analogue: implications for nuclear transport. (PubMed id 10078529)1, 2, 9 Vetter I.R.... Wittinghofer A. (Nature 1999)
    9. Structural and functional analysis of the C-terminal domain of Nup358/RanBP2. (PubMed id 23353830)1, 2 Lin D.H....Hoelz A. (J. Mol. Biol. 2013)
    10. Determinants of small ubiquitin-like modifier 1 (SUMO1) protein specificity, E3 ligase, and SUMO-RanGAP1 binding activities of nucleoporin RanBP2. (PubMed id 22194619)1, 2 Gareau J.R....Lima C.D. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5903 HGNC: 9848 AceView: RANBP2 Ensembl:ENSG00000153201 euGenes: HUgn5903
    ECgene: RANBP2 Kegg: 5903 H-InvDB: RANBP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RANBP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RANBP2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RANBP2 gene:
    Search GeneIP for patents involving RANBP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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