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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPE Gene

protein-coding   GIFtS: 63
GCID: GC02P210867

Ribulose-5-Phosphate-3-Epimerase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ribulose-5-phosphate-3-epimerase3
ribulose-5-phosphate-3-epimerase1 2
EC 5.1.3.13 8
RPE2-12
Ribulose-Phosphate 3-Epimerase2

External Ids:    HGNC: 102931   Entrez Gene: 61202   Ensembl: ENSG000001977137   OMIM: 1804805   UniProtKB: Q96AT93   

Export aliases for RPE gene to outside databases

Previous GC identifers: GC02P209142 GC02P209591 GC02P210831 GC02P211069 GC02P210692 GC02P210575 GC02P202712


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RPE Gene: 
RPE (ribulose-5-phosphate-3-epimerase) is a protein-coding gene. Diseases associated with RPE include multiple carboxylase deficiency, and proliferative vitreoretinopathy, and among its related super-pathways are Pentose phosphate pathway (hexose monophosphate shunt) and Metabolic pathways. GO annotations related to this gene include protein homodimerization activity and monosaccharide binding.

UniProtKB/Swiss-Prot: RPE_HUMAN, Q96AT9
Function: Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate

Gene Wiki entry for RPE 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPE gene promoter:
         Sp1   AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPE promoter sequence
   Search SABiosciences Chromatin IP Primers for RPE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPE


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

Entrez Gene cytogenetic band: 2q32-q33.3   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q32-q33.3

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P210867:  view genomic region     (about GC identifiers)

Start:
210,867,289 bp from pter      End:
210,886,300 bp from pter
Size:
19,012 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RPE_HUMAN, Q96AT9 (See protein sequence)
Recommended Name: Ribulose-phosphate 3-epimerase  
Size: 228 amino acids; 24928 Da
Cofactor: Binds 1 divalent metal cation per subunit. Active with Fe(2+), and probably also with Mn(2+), Zn(2+) and
Co(2+)
Subunit: Homodimer
Sequence caution: Sequence=BAB71076.1; Type=Frameshift; Positions=69; Sequence=BAC04212.1; Type=Frameshift;
Positions=42;
4 PDB 3D structures from and Proteopedia for RPE:
3OVP (3D)        3OVQ (3D)        3OVR (3D)        3QC3 (3D)    
Secondary accessions: A8K4S0 O43767 Q53TV9 Q8N215 Q96N34 Q9BSB5
Alternative splicing: 3 isoforms:  Q96AT9-1   Q96AT9-2   Q96AT9-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for RPE: NX_Q96AT9

Explore proteomics data for RPE at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AT9

  • 3 DME Specific Peptides for RPE (Q96AT9)
     MDGHFVPN  LVMTVEPG  IEVDGGVGP 

    RPE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RPE Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001265211.1  NP_001265212.1  NP_001265214.1  NP_001265215.1  NP_001265217.1  NP_001265218.1  NP_008847.1  NP_954699.1  

    ENSEMBL proteins: 
     ENSP00000352401   ENSP00000403808   ENSP00000386194   ENSP00000394455   ENSP00000401838  
     ENSP00000412245   ENSP00000397674   ENSP00000392279   ENSP00000416805   ENSP00000405695  
     ENSP00000400449   ENSP00000402061   ENSP00000411405   ENSP00000389411   ENSP00000411186  
     ENSP00000439206   ENSP00000346501  
    Reactome Protein details: Q96AT9
    Human Recombinant Protein Products for RPE: 
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    Novus Biologicals RPE Proteins
    Novus Biologicals RPE Lysates
    Sino Biological Recombinant Protein for RPE
    Sino Biological Cell Lysate for RPE 
    ProSpec Recombinant Protein for RPE
    Cloud-Clone Corp. Proteins for RPE 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0043231intracellular membrane-bounded organelle IEA--

    RPE for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for RPE 

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    GenScript Custom Assay Services for RPE
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RPE 
    Cloud-Clone Corp. CLIAs for RPE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR000056 Ribul_P_3_epim-like
     IPR011060 RibuloseP-bd_barrel
     IPR026019 Ribul_P_3_epim

    Graphical View of Domain Structure for InterPro Entry Q96AT9

    ProtoNet protein and cluster: Q96AT9

    1 Blocks protein domain: IPB000056 Ribulose-phosphate 3-epimerase

    UniProtKB/Swiss-Prot: RPE_HUMAN, Q96AT9
    Similarity: Belongs to the ribulose-phosphate 3-epimerase family


    RPE 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPE_HUMAN, Q96AT9
    Function: Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate
    Catalytic activity: D-ribulose 5-phosphate = D-xylulose 5-phosphate

         Genatlas biochemistry entry for RPE:
    ribulose-5-phosphate-3-epimerase

         Enzyme Number (IUBMB): EC 5.1.3.11 2

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004750ribulose-phosphate 3-epimerase activity IDA--
    GO:0016857racemase and epimerase activity, acting on carbohydrates and derivatives ----
    GO:0030246carbohydrate binding ----
    GO:0042802identical protein binding IPI16189514
         
    RPE for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RPE 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RPE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPE 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPE 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RPE
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate RPE (see all 21):
    hsa-miR-411* hsa-miR-362-3p hsa-miR-379* hsa-miR-16-2* hsa-miR-373* hsa-miR-641 hsa-miR-1323 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidRPE 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPE


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RPE About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Pentose phosphate pathway (hexose monophosphate shunt)
    Pentose phosphate pathway (hexose monophosphate shunt)0.88
    pentose phosphate pathway0.67
    Pentose Phosphate Pathway0.88
    pentose phosphate pathway (non-oxidative branch)0.62
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    4Glucuronidation
    Pentose and glucuronate interconversions0.61
    5MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for RPE
        pentose phosphate pathway
    Pentose Phosphate Pathway
    pentose phosphate pathway (non-oxidative branch)


    3        Reactome Pathways for RPE
        Metabolism of carbohydrates
    Pentose phosphate pathway (hexose monophosphate shunt)
    Metabolism


    5         Kegg Pathways  (Kegg details for RPE):
        Pentose phosphate pathway
    Pentose and glucuronate interconversions
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids


    RPE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RPE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/48 Interacting proteins for RPE (Q96AT91, 2, 3 ENSP000003524014) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPEQ96AT91, 2EBI-372480,EBI-372480 MINT-67523
    G6PDP114133, ENSP000003771924I2D: score=1 STRING: ENSP00000377192
    MAT1AQ002663, ENSP000003612874I2D: score=1 STRING: ENSP00000361287
    MLST8Q9BVC43, ENSP000003718884I2D: score=1 STRING: ENSP00000371888
    PGDP522093, ENSP000002707764I2D: score=1 STRING: ENSP00000270776
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006098pentose-phosphate shunt TAS--
    GO:0008152metabolic process ----
    GO:0009052pentose-phosphate shunt, non-oxidative branch IEA--
    GO:0044281small molecule metabolic process TAS--

    RPE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RPE for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RPE

    3 HMDB Compounds for RPE    About this table
    CompoundSynonyms CAS #PubMed Ids
    Angiotensin IIHypertensin (see all 11)11128-99-7--
    D-Ribulose 5-phosphateD-Ribulose 5-phosphate (see all 5)4151-19-3--
    Xylulose 5-phosphateD-xylulose-5-P (see all 9)4212-65-1--

    5 Novoseek inferred chemical compound relationships for RPE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phycoerythrobilin 86.6 3 15532563 (1), 15720763 (1)
    fluorochrome 72.4 2 8207263 (1), 8556955 (1)
    fitc 62.6 6 8207263 (1), 7822758 (1), 8556955 (1), 15822070 (1)
    streptavidin 48.2 1 9831388 (1)
    oxygen 0 3 11200082 (2)

    Search CenterWatch for drugs/clinical trials and news about RPE

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RPE gene (8 alternative transcripts): 
    NM_001278282.1  NM_001278283.1  NM_001278285.1  NM_001278286.1  NM_001278288.1  NM_001278289.1  NM_006916.2  NM_199229.2  

    Unigene Cluster for RPE:

    Ribulose-5-phosphate-3-epimerase
    Hs.282260  [show with all ESTs]
    Unigene Representative Sequence: BC063135
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359429(uc002vdn.3 uc010zjf.2 uc002vdr.3) ENST00000436630
    ENST00000408981 ENST00000454822 ENST00000429921(uc002vdo.3 uc002vdp.3 uc010fup.3 uc002vdq.3)
    ENST00000453724 ENST00000438265 ENST00000429907 ENST00000441588 ENST00000445268
    ENST00000452025 ENST00000438204 ENST00000438191 ENST00000411934 ENST00000435437
    ENST00000540255 ENST00000354506
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate RPE (see all 21):
    hsa-miR-411* hsa-miR-362-3p hsa-miR-379* hsa-miR-16-2* hsa-miR-373* hsa-miR-641 hsa-miR-1323 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidRPE 3' UTR sequence
    Inhib. RNA
    Products:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPE
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RPE

    Additional mRNA sequence: 

    AJ224326.1 AK056028.1 AK093658.1 AK096199.1 AK291035.1 AK303184.1 AK308741.1 AL833120.1 
    BC005148.2 BC016764.1 BC063135.1 BC072401.1 

    19 DOTS entries:

    DT.113342  DT.100790620  DT.100790621  DT.120956789  DT.97845556  DT.95196239  DT.92439317  DT.92439319 
    DT.100026577  DT.120956881  DT.92439312  DT.99966292  DT.75118993  DT.75173146  DT.95196244  DT.120956778 
    DT.120956788  DT.95196243  DT.92028674 

    24/234 AceView cDNA sequences (see all 234):

    BP372095 BM739681 AU123644 AI285834 AI222711 BF589604 BM987077 CB158349 
    AI631744 AA236748 AW006055 NM_199229 BC016764 CR625804 BU631053 BQ441909 
    BG612497 BM557188 AI474051 AI695866 BM674507 BC072401 BX396973 AW338492 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RPE    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:              -                                 


    ECgene alternative splicing isoforms for RPE

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RPE expression in normal human tissues (normalized intensities)      RPE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACGTCGC
    RPE Expression
    About this image


    RPE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   
     
     Tooth
             mouse/organ system/integumental system   
     
     Brain (Nervous System)
             Medulla Oblongata
     
     Spinal Cord (Nervous System)

     -- (Gastrointestinal Tract)
             visceral organ/oral region/gland   

    See RPE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPE

    SOURCE GeneReport for Unigene cluster: Hs.282260
        SABiosciences Expression via Pathway-Focused PCR Array including RPE: 
              Glucose Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPE

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPE gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpe1 , 5 ribulose-5-phosphate-3-epimerase1, 5 91.96(n)1
    97.37(a)1
      1 (33.61 cM)5
    666461  NM_025683.21  NP_079959.21 
     667008315 
    chicken
    (Gallus gallus)
    Aves RPE1 ribulose-5-phosphate-3-epimerase 79.79(n)
    92.5(a)
      770045  XM_001232387.2  XP_001232388.2 
    lizard
    (Anolis carolinensis)
    Reptilia RPE6
    Ribulose-phosphate 3-epimerase
    93(a)
    1 ↔ 1
    1(113346107-113354783)
    zebrafish
    (Danio rerio)
    Actinopterygii rpe1 ribulose-5-phosphate-3-epimerase 72.51(n)
    82.46(a)
      334897  NM_201312.1  NP_958469.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304991 , 3 CG304991 62(a)
    (best of 2)3
    61.43(n)1
    63.81(a)1
      43E13
    356921  NM_136454.21  NP_610298.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F08F8.71 , 3 Protein F08F8.71 60(a)3
    61.86(n)1
    61.4(a)1
      III(7417703-7418886)3
    1760431  NM_066219.41  NP_498620.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPE1(YJL121C)4
    RPE11
    D-ribulose-5-phosphate 3-epimerase, catalyzes a reaction more4
    Rpe1p1
    58.03(n)1
    57.27(a)1
      10(191090-190374)4
    8533221, 4  NP_012414.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G632901 putative D-ribulose-5-phosphate 3-epimerase 58.45(n)
    57(a)
      842635  NM_105008.3  NP_176518.1 
    rice
    (Oryza sativa)
    Liliopsida Os.86652 Oryza sativa D-ribulose-5-phosphate 3-epimerase mRNA, more 77.19(n)    AF189365.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPE gene
    8 SIMAP similar genes for RPE using alignment to 13 protein entries:     RPE_HUMAN (see all proteins):
    LOC729020    ZNF564    AURA2    NF2    SHANK2    FAM175A
    UTY    SPATS2L

    RPE for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for RPE (see all 6)
    PGOHUM00000242788 PGOHUM00000244652 PGOHUM00000246560 PGOHUM00000240410 PGOHUM00000237967


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/396 SNPs in RPE are shown (see all 396)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1909338491,2
    --210865391(+) CAGGGA/GGCGGC 2 -- us2k10--------
    rs1840258071,2
    --210865417(+) TGGGCA/GCGCAG 2 -- us2k10--------
    rs1889083931,2
    --210865419(+) GGCGCA/GCAGGA 2 -- us2k10--------
    rs1180022111,2
    C,F--210865472(+) GTCCCG/AAGCCC 2 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1168208461,2
    C,F--210865484(+) GCCCCG/ATAGAG 2 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1389161871,2
    --210865601(+) GGGCCA/GCAGAG 2 -- us2k10--------
    rs21104041,2
    C,A,H--210865666(+) ccgccC/Tgtgcc 2 -- us2k114Minor allele frequency- T:0.00NS NA WA CSA EA 498
    rs1921774071,2
    --210865712(+) AGCTCC/TGGCCT 2 -- us2k10--------
    rs1841850261,2
    --210865774(+) CAAGCA/GCGGCC 2 -- us2k10--------
    rs1870529981,2
    --210865804(+) AGAAGA/GCACCG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPE (210867289 - 210886300 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RPE: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RPE
    DNA2.0 Custom Variant and Variant Library Synthesis for RPE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 180480    OMIM disorders: --

    6 diseases for RPE:    About MalaCards
    multiple carboxylase deficiency    proliferative vitreoretinopathy    macular degeneration    age related macular degeneration
    pneumonia    tuberculosis


    RPE for disorders           About GeneDecksing


    Export disorders for RPE 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)
    About This Section

    PubMed articles for RPE gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with RPE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2, 9 Stanchi F.... Valle G. (2001)
    2. Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new insights from structural and biochemical studies on human RPE. (PubMed id 20923965)1, 2 Liang W.... Liu Z.J. (2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    10. Alu-SINE exonization: en route to protein-coding function. (PubMed id 15901843)1 Krull M.... Schmitz J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 6120 HGNC: 10293 AceView: RPE Ensembl:ENSG00000197713 euGenes: HUgn6120
    ECgene: RPE Kegg: 6120 H-InvDB: RPE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RPE Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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