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

MRPS6 Gene

protein-coding   GIFtS: 49
GCID: GC21P035458

mitochondrial ribosomal protein S6

(Previous name: chromosome 21 open reading frame 101 )
(Previous symbol: C21orf101)
 Explore 2 diseases affiliated with
MRPS6 via our new
 Human Malady Compendium 
Biological research products
for MRPS6
    

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

Aliases
Mitochondrial Ribosomal Protein S61 2     S6mt2 3
C21orf1011 2 3     Chromosome 21 Open Reading Frame 1011
MRP-S61 2 3     28S Ribosomal Protein S6, Mitochondrial2
RPMS61 2 3     

External Ids:    HGNC: 140511   Entrez Gene: 649682   Ensembl: ENSG000002439277   OMIM: 6119735   UniProtKB: P829323   

Export aliases for MRPS6 gene to outside databases

Previous GC identifers: GC21P032023 GC21P034366 GC21P034367 GC21P035446 GC21P035448 GC21P020976 GC21P035450 GC21P035452 GC21P035454 GC21P035456


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

Entrez Gene summary for MRPS6:
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the
mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They
have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed.
Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA.
Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in
biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein
that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p
and 12q. (provided by RefSeq, Jul 2008)

Gene Wiki entry for MRPS6


(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_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPS6 gene promoter:
         ISGF-3   GCNF   FOXO3   LCR-F1   FOXO3b   GATA-1   PPAR-gamma1   FOXO3a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPS6 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPS6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPS6


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.11

MRPS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPS6 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P035458:  view genomic region     (about GC identifiers)

Start:
35,445,524 bp from pter      End:
35,515,334 bp from pter
Size:
69,811 bases      Orientation:
plus 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: RT06_HUMAN, P82932 (See protein sequence)
Recommended Name: 28S ribosomal protein S6, mitochondrial  
Size: 125 amino acids; 14227 Da
Subunit: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct
proteins
Subcellular location: Mitochondrion
Sequence caution: Sequence=BAB40995.1; Type=Erroneous initiation;
Secondary accessions: B2R573 Q96Q64 Q9BSK8 Q9BW89

Explore the universe of human proteins at neXtProt for MRPS6: NX_P82932

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P82932

  • MRPS6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115865.1  
    ENSEMBL proteins: 
     ENSP00000382250  

    Human Recombinant Protein Products: 
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    Uscn Proteins for MRPS6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0015935small ribosomal subunit NAS11279123


    MRPS6 for ontologies           About GeneDecksing



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

    MRPS6 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000529 Ribosomal_S6
     IPR014717 Transl_elong_EF1B/ribosomal_S6

    Graphical View of Domain Structure for InterPro Entry P82932

    ProtoNet protein and cluster: P82932

    1 Blocks protein family: IPB000529 Ribosomal protein S6

    UniProtKB/Swiss-Prot: RT06_HUMAN, P82932
    Similarity: Belongs to the ribosomal protein S6P family


    (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
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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS11279123
    GO:0019843rRNA binding IEA--


    MRPS6 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 MRPS6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/240 Interacting proteins for MRPS6 (P829322, 3 ENSP000003822504) via UniProtKB, MINT, STRING, and/or I2D (see all 240)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1377Q9P2H02, 3MINT-64013 I2D: score=5 
    LRIF1Q5T3J32, 3MINT-64012 I2D: score=4 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SRRM2Q9UQ353, ENSP000003017404I2D: score=1 STRING: ENSP00000301740
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation NAS11279123


    MRPS6 for ontologies           About GeneDecksing



    (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 MRPS6
    Search CenterWatch for drugs/clinical trials and news about MRPS6 / RT06 

    (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 MRPS6 gene: 
    NM_032476.3  

    Unigene Cluster for MRPS6:

    Mitochondrial ribosomal protein S6
    Hs.302742  [show with all ESTs]
    Unigene Representative Sequence: NM_006933
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488492 ENST00000399312(uc002ytp.2) ENST00000477091 ENST00000483977
    ENST00000482679

    miRNA
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    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPS6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPS6

    Additional cDNA sequence: 

    AB049942.1 AB074183.1 AK024896.1 AK026169.1 AK055913.1 AK092248.1 AK312084.1 AY061855.1 
    BC000547.2 BC004976.1 BC010076.2 BC051302.1 X83558.1 

    14 DOTS entries:

    DT.316613  DT.100780612  DT.117552  DT.443049  DT.121141792  DT.97844388  DT.100028351  DT.100028352 
    DT.95127516  DT.100740703  DT.92452025  DT.121141816  DT.100688983  DT.121141815 

    24/460 AceView cDNA sequences (see all 460):

    AA029258 BM830659 N79574 BQ771747 AI332649 BM831419 AW241378 AI871766 
    AI280479 AI375330 CF128254 BI493912 AA570382 BE384048 C00620 BM713560 
    BQ071658 BX282240 BC042752 AI422744 BM563952 BU622555 AI014757 BQ232870 

    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

    MRPS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGAAATAAA

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

    About this image

    MRPS6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MRPS6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPS6

    SOURCE GeneReport for Unigene cluster: Hs.302742
        SABiosciences Custom PCR Arrays for MRPS6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPS6

    (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 MRPS6 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrps61 , 5 mitochondrial ribosomal protein S61, 5 84(n)1
    85.6(a)1
      16 (53.44 cM)5
    1210221  NM_080456.11  NP_536704.11 
     920582705 
    chicken
    (Gallus gallus)
    Aves MRPS61 mitochondrial ribosomal protein S6 68.87(n)
    66.94(a)
      427978  NM_001031486.1  NP_001026657.1 
    lizard
    (Anolis carolinensis)
    Reptilia MRPS66
    --
    58(a)
    1 ↔ 1
    3(142660756-142670773)
    zebrafish
    (Danio rerio)
    Actinopterygii mrps61 mitochondrial ribosomal protein S6 55.56(n)
    54.63(a)
      751746  NM_001045456.1  NP_001038921.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpS61 mitochondrial ribosomal protein S6 50.18(n)
    44.21(a)
      38535  NM_079201.4  NP_523925.1 


    ENSEMBL Gene Tree for MRPS6 (if available)
    TreeFam Gene Tree for MRPS6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MRPS6 gene

    MRPS6 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for MRPS6
    PGOHUM00000239884 PGOHUM00000243940 PGOHUM00000244714


    (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

    10/662 NCBI SNPs in MRPS6 are shown (see all 662    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124834011,2
    C,F,H,--35443829(+) GTTAAT/CTGACA 1 -- us2k15Minor allele frequency- C:0.01NS EA NA 418
    rs775485981,2
    C,--35479198(+) CTACTT/ACTTGG 1 -- int12Minor allele frequency- A:0.04WA 120
    rs622121221,2
    F,--35479240(+) TTTGGC/TGGTGG 1 -- int13Minor allele frequency- T:0.06WA NA EA 358
    rs801865811,2
    C--35479242(+) TGGCGC/GTGGAG 1 -- int10--------
    rs750975301,2
    C--35479244(+) GCGGTA/GGAGGG 1 -- int10--------
    rs790584671,2
    C--35479245(+) CGGTGG/TAGGGG 1 -- int10--------
    rs1408351761,2
    --35479265(+) TTGCTC/GTGTCG 1 -- int10--------
    rs1859634741,2
    --35479269(+) TCTGTC/TGCCCA 1 -- int10--------
    rs288293761,2
    C,--35479327(+) CTGAGT/GTCAAG 1 -- int12Minor allele frequency- G:0.10CSA WA 119
    rs1899505711,2
    C,--35479340(+) ATTCTC/TGTGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for MRPS6 (35445524 - 35515334 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MRPS6
         2 CNVs: 2006 73629

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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

    MRPS6 for disorders           About GeneDecksing

    OMIM gene information: 611973    OMIM disorders: --

    2 diseases for MRPS6:    About MalaCards
    myocardial infarction    gigantism

    Human Genome Epidemiology (HuGE) Navigator: MRPS6 (6 documents)

    Export disorders for MRPS6 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 MRPS6 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with MRPS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Nineteen additional unpredicted transcripts from human chromosome 21. (PubMed id 12036297)1, 2 Reymond A....Antonarakis S.E. (2002)
    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 2 Kenmochi N....Tanaka T. (2001)
    5. Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28S small subunit. (PubMed id 11402041)1, 2 Suzuki T....Watanabe K. (2001)
    6. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. (PubMed id 11279123)1, 2 Koc E.C.... Spremulli L.L. (2001)
    7. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    8. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1 Schunkert H....Samani N.J. (2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (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: 64968 HGNC: 14051 AceView: SLC5A3 Ensembl:ENSG00000243927 euGenes: HUgn64968
    ECgene: MRPS6 H-InvDB: MRPS6

    (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 MRPS6 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 MRPS6 gene:
    Search GeneIP for patents involving MRPS6

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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     MRPS6 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with MRPS6: PureStem ES-210, Ecto-ntu Progenitor
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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