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

RUFY2 Gene

protein-coding   GIFtS: 48
GCID: GC10M070100

RUN and FYVE domain containing 2

 Explore 2 diseases affiliated with
RUFY2 via our new
 Human Malady Compendium 
Biological research products
for RUFY2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RUN And FYVE Domain Containing 21 2     FLJ100631
RABIP4R1 2 3     Antigen MU-RMS-40.172
ZFYVE131 2     RUN And FYVE Domain-Containing 22
KIAA15371 3     RUN And FYVE Domain-Containing Protein 22
Rab4-Interacting Protein Related2 3     Run- And FYVE-Domain Containing Protein2

External Ids:    HGNC: 197611   Entrez Gene: 556802   Ensembl: ENSG000002041307   OMIM: 6103285   UniProtKB: Q8WXA33   

Export aliases for RUFY2 gene to outside databases

Previous GC identifers: GC10M069186 GC10M069993 GC10M069445 GC10M069770 GC10M064103


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RUFY2 gene promoter:
         CHOP-10   SRY   Elk-1   NCX/Ncx   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRUFY2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RUFY2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUFY2


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

Entrez Gene cytogenetic band: 10q21.3   Ensembl cytogenetic band:  10q21.3   HGNC cytogenetic band: 10q22.2

RUFY2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUFY2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M070100:  view genomic region     (about GC identifiers)

Start:
70,100,864 bp from pter      End:
70,167,051 bp from pter
Size:
66,188 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RUFY2_HUMAN, Q8WXA3 (See protein sequence)
Recommended Name: RUN and FYVE domain-containing protein 2  
Size: 655 amino acids; 75055 Da
Subunit: Interacts with BMX
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=CAI17232.1; Type=Erroneous gene model prediction;
Secondary accessions: B3KXB2 Q5TC48 Q8IW33 Q96P51 Q9P1Z1
Alternative splicing: 4 isoforms:  Q8WXA3-1   Q8WXA3-2   Q8WXA3-3   Q8WXA3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RUFY2: NX_Q8WXA3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WXA3

  • RUFY2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035882.1  NP_060457.4  

    ENSEMBL proteins: 
     ENSP00000433197   ENSP00000265865   ENSP00000341727   ENSP00000373420   ENSP00000382151  
     ENSP00000404986  

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    Uscn Proteins for RUFY2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--


    RUFY2 for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for RUFY2

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    Uscn ELISAs and CLIAs for RUFY2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RUFY2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000306 Znf_FYVE
     IPR017455 Znf_FYVE-rel
     IPR013083 Znf_RING/FYVE/PHD
     IPR004012 Run
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q8WXA3

    ProtoNet protein and cluster: Q8WXA3

    1 Blocks protein family: IPB000306 Zn-finger

    UniProtKB/Swiss-Prot: RUFY2_HUMAN, Q8WXA3
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 RUN domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): RUFY2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUFY2
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    hsa-let-7d hsa-miR-106a hsa-miR-578 hsa-miR-218 hsa-miR-519a hsa-let-7g hsa-let-7a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRUFY2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RUFY2 (see all 3)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUFY2

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--


    RUFY2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RUFY2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for RUFY2 (Q8WXA32, 3 ENSP000003734204) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DUSP23Q9BVJ72, 3MINT-8254732 I2D: score=2 
    SF3B3Q153932, 3, ENSP000003057904MINT-8270308 I2D: score=2 STRING: ENSP00000305790
    BMXP518133, ENSP000003087744I2D: score=2 STRING: ENSP00000308774
    EPHA3P293203, ENSP000003374514I2D: score=1 STRING: ENSP00000337451
    CHIAENSP000003418284STRING: ENSP00000341828
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RUFY2
    Search CenterWatch for drugs/clinical trials and news about RUFY2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RUFY2 gene (2 alternative transcripts): 
    NM_001042417.1  NM_017987.4  

    Unigene Cluster for RUFY2:

    RUN and FYVE domain containing 2
    Hs.653144  [show with all ESTs]
    Unigene Representative Sequence: NM_017987
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466493(uc001jnz.1) ENST00000463210 ENST00000484083 ENST00000466187
    ENST00000265865 ENST00000473398 ENST00000491118 ENST00000472394 ENST00000342616(uc001joe.1)
    ENST00000388768(uc001joa.3 uc001job.3) ENST00000399200(uc001joc.3 uc010qiw.2 uc001jod.1 uc009xpv.1)
    ENST00000454950

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUFY2
    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate RUFY2 (see all 40):
    hsa-let-7d hsa-miR-106a hsa-miR-578 hsa-miR-218 hsa-miR-519a hsa-let-7g hsa-let-7a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRUFY2 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUFY2
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    Additional cDNA sequence: 

    AB040970.1 AF411980.1 AF461266.1 AK055646.1 AK091629.1 AK294211.1 AY528716.1 BC020659.2 
    BC041092.1 BC062660.1 

    14 DOTS entries:

    DT.95263919  DT.100678426  DT.409243  DT.92419375  DT.95155659  DT.99942629  DT.97838276  DT.92008348 
    DT.95230056  DT.40113994  DT.40198251  DT.75109463  DT.75180673  DT.92424344 

    24/87 AceView cDNA sequences (see all 87):

    BQ723438 BC062660 BC041092 AF461266 AB040970 AF411980 AW337129 AI221958 
    AA251609 CA422079 CB995997 NM_017987 BQ776460 BG707400 AU117462 AK055646 
    AK127019 BG681628 BQ776772 AL713231 BC020659 BP353964 BM998747 CA396240 

    GeneLoc Exon Structure


    (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

    RUFY2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCCAGGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RUFY2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RUFY2

    SOURCE GeneReport for Unigene cluster: Hs.653144

    UniProtKB/Swiss-Prot: RUFY2_HUMAN, Q8WXA3
    Tissue specificity: Expressed in brain, lung and testis

        SABiosciences Custom PCR Arrays for RUFY2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUFY2

    (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 animals.

    Orthologs for RUFY2 gene from 4/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RUFY21 RUN and FYVE domain containing 2 81.68(n)
    89.6(a)
      423687  XM_421568.3  XP_421568.2 
    lizard
    (Anolis carolinensis)
    Reptilia RUFY26
    --
    81(a)
    1 ↔ 1
    GL343215.1(1526247-1551938)
    zebrafish
    (Danio rerio)
    Actinopterygii rufy21 RUN and FYVE domain containing 2 71.58(n)
    79.23(a)
      569096  NM_001105681.1  NP_001099151.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG310641 CG31064 51.26(n)
    46.75(a)
      43277  NM_170324.2  NP_733203.1 


    ENSEMBL Gene Tree for RUFY2 (if available)
    TreeFam Gene Tree for RUFY2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RUFY2 gene
    RUNDC3A2  RUNDC3B2  RUFY32  RUFY12  
    3 SIMAP similar genes for RUFY2 using alignment to 6 protein entries:     RUFY2_HUMAN (see all proteins):
    RUFY3    RUFY1    RUNDC3A

    RUFY2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1096 NCBI SNPs in RUFY2 are shown (see all 1096    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs172974391,2
    C,F,H,--70103461(+) ATCACG/AAAATA 1 -- ut3121Minor allele frequency- A:0.10NA NS EA WA 2482
    rs1848425451,2
    --70103477(+) TGTTAA/GAAGTC 1 -- ut310--------
    rs1904177441,2
    --70103497(+) AAAAAC/TCCAAA 1 -- ut310--------
    rs1484363431,2
    C,--70103501(+) TCCAA-/AGTT  
            
    AGTTA
    1 -- ut310--------
    rs1482160391,2
    --70103508(+) GTTAGA/TATAGT 1 -- ut310--------
    rs1397899201,2
    C,--70103564(+) CTGCC-/TTAAAA 1 -- ut310--------
    rs11627551,2
    C,F,A,H,,--70103566(-) TTTTTA/TAGGCA 1 -- ut315Minor allele frequency- T:0.17NA WA 12
    rs348117011,2
    F--70103590(+) AAAAAG/AGCAAG 1 -- ut311Minor allele frequency- A:0.50NA 4
    rs11627541,2
    C,F,H,--70103597(-) TGACTT/GACTTG 1 -- ut3116Minor allele frequency- G:0.01MN NS EA NA WA CSA 957
    rs1412182571,2
    --70103616(+) ACATGA/GGTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RUFY2 (70100864 - 70167051 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RUFY2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RUFY2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RUFY2 for disorders           About GeneDecksing

    OMIM gene information: 610328    OMIM disorders: --

    2 diseases for RUFY2:    About MalaCards
    alzheimer's disease    malaria

    Human Genome Epidemiology (HuGE) Navigator: RUFY2 (1 document)

    Export disorders for RUFY2 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 RUFY2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with RUFY2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction between tyrosine kinase Etk and a RUN-domain and FYVE- domain containing protein RUFY1. A possible role of Etk in regulation of vesicle trafficking. (PubMed id 11877430)1, 2, 3 Yang J.... Qiu Y. (2002)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (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: 55680 HGNC: 19761 AceView: RUFY2 Ensembl:ENSG00000204130 euGenes: HUgn55680
    ECgene: RUFY2 H-InvDB: RUFY2

    (According to HUGE)
    About This Section
    HUGE: KIAA1537

    (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 RUFY2 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 RUFY2 gene:
    Search GeneIP for patents involving RUFY2

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     RUFY2 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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