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

KLHL6 Gene

protein-coding   GIFtS: 49
GCID: GC03M183205

kelch-like family member 6

(Previous name: kelch-like 6 (Drosophila) )
 Explore 2 diseases affiliated with
KLHL6 via our new
 Human Malady Compendium 
Biological research products
for KLHL6
    

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

Aliases
Kelch-Like Family Member 61 2
FLJ000291
Kelch-Like 6 (Drosophila)1
Kelch-Like 62
Kelch-Like Protein 62
Kelch-Like Protein KLHL62

External Ids:    HGNC: 186531   Entrez Gene: 898572   Ensembl: ENSG000001725787   OMIM: 6142145   UniProtKB: Q8WZ603   

Export aliases for KLHL6 gene to outside databases

Previous GC identifers: GC03M179980 GC03M184061 GC03M184607 GC03M184526 GC03M184688 GC03M180611


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

UniProtKB/Swiss-Prot: KLHL6_HUMAN, Q8WZ60
Function: Involved in B-lymphocyte antigen receptor signaling and germinal center formation (By similarity)




(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_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL6 gene promoter:
         C/EBPbeta   AML1a   MyoD   c-Ets-1   C/EBPalpha   Evi-1   Meis-1b   Meis-1a   ATF6   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL6 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL6


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

Entrez Gene cytogenetic band: 3q27.3   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27.3

KLHL6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL6 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M183205:  view genomic region     (about GC identifiers)

Start:
183,205,319 bp from pter      End:
183,273,499 bp from pter
Size:
68,181 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: KLHL6_HUMAN, Q8WZ60 (See protein sequence)
Recommended Name: Kelch-like protein 6  
Size: 621 amino acids; 70359 Da
Sequence caution: Sequence=AAH32348.1; Type=Erroneous initiation; Sequence=AAL35594.1; Type=Erroneous initiation;
Sequence=BAG37078.1; Type=Erroneous initiation;
Secondary accessions: B2RB31 D3DNS8 Q8N5I1 Q8N892

Explore the universe of human proteins at neXtProt for KLHL6: NX_Q8WZ60

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WZ60

  • KLHL6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_569713.2  
    ENSEMBL proteins: 
     ENSP00000341342   ENSP00000433734  

    Human Recombinant Protein Products: 
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    Novus Biologicals KLHL6 Lysate
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    Uscn Proteins for KLHL6


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    Uscn ELISAs and CLIAs for KLHL6


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

    KLHL6 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q8WZ60

    ProtoNet protein and cluster: Q8WZ60

    2 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLHL6_HUMAN, Q8WZ60
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: KLHL6_HUMAN, Q8WZ60
    Function: Involved in B-lymphocyte antigen receptor signaling and germinal center formation (By similarity)

    miRNA
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    hsa-miR-3164 hsa-miR-596 hsa-miR-330-5p hsa-let-7d hsa-miR-3167 hsa-let-7g hsa-let-7a hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL6

    1 GenomeRNAi human phenotype for KLHL6:
     Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Klhl6tm1Sato for KLHL6
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Klhl6):
     cellular  hematopoietic system  immune system 

    KLHL6 for phenotypes           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 KLHL6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KLHL6 (Q8WZ603 ENSP000003413424) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002467germinal center formation IEA--
    GO:0050853B cell receptor signaling pathway IEA--


    KLHL6 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 KLHL6
    Search CenterWatch for drugs/clinical trials and news about KLHL6 

    (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 KLHL6 gene: 
    NM_130446.2  

    Unigene Cluster for KLHL6:

    Kelch-like 6 (Drosophila)
    Hs.659147  [show with all ESTs]
    Unigene Representative Sequence: NM_130446
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341319(uc003flr.3 uc003fls.1) ENST00000468734(uc010hxk.1)
    ENST00000489245(uc003flt.1) ENST00000487643

    miRNA
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    OriGene 3'-UTR Clone: KLHL6
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL6
    8/52 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL6 (see all 52):
    hsa-miR-3164 hsa-miR-596 hsa-miR-330-5p hsa-let-7d hsa-miR-3167 hsa-let-7g hsa-let-7a hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL6

    Additional cDNA sequence: 

    AF441792.1 AK024439.2 AK097976.1 AK314473.1 AL833667.1 BC032348.1 BC037989.1 

    5 DOTS entries:

    DT.108073  DT.97778456  DT.97801336  DT.97775263  DT.40197824 

    24/80 AceView cDNA sequences (see all 80):

    AI248969 BM473670 AA259058 AK024439 AA702797 BC032348 AA811674 CF136392 
    BQ029126 BG106861 AL833667 AI769833 AF441792 AW402936 AK097125 NM_130446 
    AW574734 AW402769 AW407684 AW574798 CA308792 BC037989 AW593652 N25077 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL6 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
    SP1:                    -           -                                   -                           
    SP2:                    -           -                 -     -                                       
    SP3:                                                                    -                 -         
    SP4:                                                                                                
    SP5:        -     -     -           -                                                               


    ECgene alternative splicing isoforms for KLHL6

    (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

    KLHL6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTTGAACT

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

    About this image

    KLHL6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumCardiac FibroblastsEpicardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KLHL6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL6

    SOURCE GeneReport for Unigene cluster: Hs.659147

    UniProtKB/Swiss-Prot: KLHL6_HUMAN, Q8WZ60
    Tissue specificity: Found in germinal center B-cells

        SABiosciences Custom PCR Arrays for KLHL6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL6

    (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 chordates.

    Orthologs for KLHL6 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KLHL61 kelch-like 6 (Drosophila) 77.38(n)
    84.26(a)
      424762  NM_001031303.2  NP_001026474.2 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL66
    --
    81(a)
    1 ↔ 1
    3(37799141-37819959)
    zebrafish
    (Danio rerio)
    Actinopterygii klhl61 kelch-like 6 (Drosophila) 67.98(n)
    71.93(a)
      368818  NM_001005316.1  NP_001005316.1 


    ENSEMBL Gene Tree for KLHL6 (if available)
    TreeFam Gene Tree for KLHL6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL6 gene
    KLHL382  KLHL212  KLHL292  KLHL232  KBTBD32  KLHL112  KLHL242  KLHL252  
    KLHL302  KLHL352  ENC12  CCIN2  
    18/20 SIMAP similar genes for KLHL6 using alignment to 1 protein entry:     KLHL6_HUMAN(see all similar genes):
    FLJ00029    KLHL24    KLHL17    KBTBD3    KLHL32    KLHL20
    KLHL35    KLHL3    ENC1    KLHL12    KLHL21    KLHL29
    KLHL28    KLHL5    KLHL1    KLHL18    KLHL2    KLHL23

    KLHL6 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

    10/1361 NCBI SNPs in KLHL6 are shown (see all 1361    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420577381,2
    --183204864(+) AACAAA/TCTAAA 1 -- ds50010--------
    rs175433401,2
    C,F,H,--183204923(+) TACACG/ATGCCC 1 -- ds500120Minor allele frequency- A:0.09NA EA NS WA 2254
    rs1457298971,2
    --183204925(+) CACGTC/GCCCCA 1 -- ds50010--------
    rs801141631,2
    C,--183204972(+) AACACA/GGGAAC 1 -- ds50012Minor allele frequency- G:0.21CSA WA 120
    rs9067201,2
    C,F,A,H,--183204987(+) GTGGAG/CGCAGG 1 -- ds500116Minor allele frequency- C:0.14EA NS WA NA CSA 657
    rs9067211,2
    C,F,A,H,--183204997(+) GCTAAG/AAGGTC 1 -- ds500131Minor allele frequency- A:0.18NA EA NS WA CSA 2793
    rs9067221,2
    C,F,O,H,--183205100(+) AAAAGC/TTTGCT 1 -- ds500114Minor allele frequency- T:0.13EA NS NA CSA WA 1104
    rs1481349131,2
    --183205109(+) CTCAGC/TGAGGC 1 -- ds50010--------
    rs119263721,2
    C,F,H,--183205161(+) TTCTAT/GAAATC 1 -- ds500119Minor allele frequency- G:0.15EA NS NA WA 2114
    rs1869451051,2
    --183205167(+) AAATCA/TAACCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KLHL6 (183205319 - 183273499 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KLHL6: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLHL6
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL6

    (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

    KLHL6 for disorders           About GeneDecksing

    OMIM gene information: 614214    OMIM disorders: --

    2 diseases for KLHL6:    About MalaCards
    fanconi's anemia    anemia


    Export disorders for KLHL6 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 KLHL6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Specific over-expression of deltex and a new Kelch-like protein in human germinal center B cells. (PubMed id 12617994)1, 2, 3, 9 Gupta-Rossi N....Dahan A. (2003)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 3 Hattori A.... Ohara O. (2000)
    5. 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)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (2009)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 89857 HGNC: 18653 AceView: KLHL6 Ensembl:ENSG00000172578 euGenes: HUgn89857
    ECgene: KLHL6 H-InvDB: KLHL6

    (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 KLHL6 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 KLHL6 gene:
    Search GeneIP for patents involving KLHL6

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



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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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