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

FRMD3 Gene

protein-coding   GIFtS: 45
GCID: GC09M085857

FERM domain containing 3

 Explore 2 diseases affiliated with
FRMD3 via our new
 Human Malady Compendium 
Biological research products
for FRMD3
    

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

Aliases
FERM Domain Containing 31 2     MGC205531
EPB41L4O1 2 3     P4102
Band 4.1-Like Protein 4O2 3     Band 4.1-Like Protein 42
Ovary Type Protein 4.12 3     FERM Domain-Containing Protein 32
4.1O2 3     Protein 4.1O2
EPB41LO2 5     

External Ids:    HGNC: 241251   Entrez Gene: 2570192   Ensembl: ENSG000001721597   OMIM: 6076195   UniProtKB: A2A2Y43   

Export aliases for FRMD3 gene to outside databases

Previous GC identifers: GC09M081315 GC09M083087 GC09M085047 GC09M055687


(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 FRMD3:
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in
erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been
determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in
this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: FRMD3_HUMAN, A2A2Y4
Function: Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer




(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FRMD3 gene promoter:
         USF1   Spz1   ATF-2   CREB   CRE-BP1   HEN1   E2F-1   E2F   USF-1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRMD3 promoter sequence
   Search SABiosciences Chromatin IP Primers for FRMD3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMD3


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

Entrez Gene cytogenetic band: 9q21.32   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q21.33

FRMD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMD3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M085857:  view genomic region     (about GC identifiers)

Start:
85,857,905 bp from pter      End:
86,153,461 bp from pter
Size:
295,557 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: FRMD3_HUMAN, A2A2Y4 (See protein sequence)
Recommended Name: FERM domain-containing protein 3  
Size: 597 amino acids; 68772 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Developmental stage: Expressed in skeletal muscle, lower levels in thymus and brain
Sequence caution: Sequence=BAC04321.1; Type=Erroneous initiation; Sequence=EAW62650.1; Type=Erroneous initiation;
Secondary accessions: A8MQB0 B4DN14 Q53EP2 Q5JV59 Q5VZA1 Q86WP8 Q8IZ44 Q8N3Y5 Q8N9L2
Alternative splicing: 5 isoforms:  A2A2Y4-1   A2A2Y4-2   A2A2Y4-3   A2A2Y4-4   A2A2Y4-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FRMD3: NX_A2A2Y4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A2A2Y4

  • FRMD3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001231888.1  NP_001231889.1  NP_001231890.1  NP_001231891.1  NP_777598.3  

    ENSEMBL proteins: 
     ENSP00000365621   ENSP00000365617   ENSP00000328615   ENSP00000303508   ENSP00000412719  

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    Uscn Proteins for FRMD3

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0016021integral to membrane IEA--
    GO:0019898extrinsic to membrane IEA--


    FRMD3 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

    FRMD3 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR019748 FERM_central
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin
     IPR019747 FERM_CS
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry A2A2Y4

    ProtoNet protein and cluster: A2A2Y4

    UniProtKB/Swiss-Prot: FRMD3_HUMAN, A2A2Y4
    Similarity: Contains 1 FERM 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

    Function Summary:

         UniProtKB/Swiss-Prot: FRMD3_HUMAN, A2A2Y4
    Function: Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008092cytoskeletal protein binding IEA--


    FRMD3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FRMD3:
     Increased TP53 protein express 


    (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 FRMD3

    (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 FRMD3
    Search CenterWatch for drugs/clinical trials and news about FRMD3 

    (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 FRMD3 gene (5 alternative transcripts): 
    NM_001244959.1  NM_001244960.1  NM_001244961.1  NM_001244962.1  NM_174938.5  

    Unigene Clusters for FRMD3:

    FERM domain containing 3
    Hs.127535  [show with all ESTs], Hs.743606  [show with all ESTs]
    Unigene Representative Sequences: NM_174938, BC023560
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376438(uc004amr.1) ENST00000376434(uc022biz.1) ENST00000328788(uc004amq.1)
    ENST00000304195(uc022bja.1 uc004ams.2) ENST00000465485 ENST00000431299


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    hsa-miR-3651 hsa-miR-129-3p hsa-miR-938 hsa-miR-129* hsa-miR-548c-3p hsa-miR-1256
    SwitchGear 3'UTR luciferase reporter plasmidFRMD3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: BC023560.1 

    8 DOTS entries:

    DT.99996872  DT.75180596  DT.433205  DT.100018807  DT.100018809  DT.121144399  DT.97837252  DT.75104450 

    24/83 AceView cDNA sequences (see all 83):

    BM666832 BX089823 BM873990 AI984360 BM715647 BM874423 AA402220 BU189443 
    BF110588 BE221726 W32094 BI827685 BM674088 BC023560 AW162166 BC037253 
    AK094281 AI015267 AI624361 BU618212 AI540628 AW160536 BX390381 AI492565 

    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

    FRMD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTACATTGGA

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

    About this image

    FRMD3 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)
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium

    See FRMD3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRMD3

    SOURCE GeneReport for Unigene clusters: Hs.127535 Hs.743606

    UniProtKB/Swiss-Prot: FRMD3_HUMAN, A2A2Y4
    Tissue specificity: Ovary-specific

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD3

    (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 FRMD3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FRMD31 FERM domain containing 3 81.05(n)
    84.58(a)
      427452  XM_003643038.1  XP_003643086.1 
    lizard
    (Anolis carolinensis)
    Reptilia FRMD36
    --
    80(a)
    1 ↔ 1
    2(42809720-42879825)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003312561 erythrocyte protein band 4.1-like 1-like 65.81(n)
    64.73(a)
      100331256  XM_002663231.1  XP_002663277.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50221 CG5022 48.5(n)
    41.85(a)
      34398  NM_135540.1  NP_609384.1 
    worm
    (Caenorhabditis elegans)
    Secernentea frm-46
    FERM domain (protein4.1-ezrin-radixin-moesin) fami...
    19(a)
    1 → many
    I(5402898-5408462)


    ENSEMBL Gene Tree for FRMD3 (if available)
    TreeFam Gene Tree for FRMD3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRMD3 gene
    EPB412  EPB41L52  EPB41L12  EPB41L4B2  FARP12  FRMD52  MYLIP2  EPB41L32  
    FRMD72  EPB41L4A2  FARP22  EPB41L22  
    11 SIMAP similar genes for FRMD3 using alignment to 2 protein entries:     FRMD3_HUMAN (see all proteins):
    FRMD5    EPB41L1    PTPN4    EPB41    EPB41L4A    EPB41L4B
    EPB41L2    EPB41L5    EPB41L3    FARP2    FARP1

    FRMD3 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

    10/5456 NCBI SNPs in FRMD3 are shown (see all 5456    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1863862171,2
    --85857429(+) GTCTCC/TGTGGA 3 -- ds50010--------
    rs1412314631,2
    --85857517(+) ATTTGC/TAAGCC 3 -- ds50010--------
    rs70460381,2
    C,F,H,--85857590(+) AACATT/GGAAAA 3 -- ds50014Minor allele frequency- G:0.03NS EA 418
    rs1469759871,2
    --85857684(+) CTTCTA/GTTCTT 3 -- ds50010--------
    rs78578221,2
    C,F,A,H,--85857703(+) ATAACG/AGATAA 3 -- ds50015Minor allele frequency- A:0.23NS EA WA 536
    rs1441731941,2
    --85857712(+) AAGCTC/GTCTCA 3 -- ds50010--------
    rs70305341,2
    C,H--85857971(+) GCAAGG/TTTCCT 3 -- ut31 ese33Minor allele frequency- T:0.00NS EA 298
    rs583532291,2
    F,--85858003(+) GCTGCC/TGAGCC 3 -- ut311Minor allele frequency- T:0.14WA 118
    rs736485181,2
    C,--85858026(+) CCCACC/TGAACT 3 -- ut312Minor allele frequency- T:0.14WA 120
    rs1501746901,2
    --85858201(+) AGTAAA/GCAGCG 3 -- int10--------

    HapMap Linkage Disequilibrium report for FRMD3 (85857905 - 86107905 bp, first 250kb of FRMD3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FRMD3: --

    SABiosciences Cancer Mutation PCR Assays
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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

    FRMD3 for disorders           About GeneDecksing

    OMIM gene information: 607619    OMIM disorders: --

    2 diseases for FRMD3:    About MalaCards
    nephropathy    lung cancer

    Human Genome Epidemiology (HuGE) Navigator: FRMD3 (5 documents)

    Export disorders for FRMD3 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 FRMD3 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FRMD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary. (PubMed id 12601556)1, 2, 3, 9 Ni X....Mao Y. (2003)
    2. FRMD3, a novel putative tumour suppressor in NSCLC. (PubMed id 17260017)1, 2 Haase D.... Angel P. (2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans. (PubMed id 21698141)1 Freedman B.I....Bowden D.W. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Replication study for the association between four Lo ci identified by a genome-wide association study on European american subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese sub jects with type 2 diabetes. (PubMed id 20460425)1 Maeda S....Nakamura Y. (2010)
    7. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. (PubMed id 19252134)1 Pezzolesi M.G....Krolewski A.S. (2009)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 257019 HGNC: 24125 AceView: FRMD3 Ensembl:ENSG00000172159 euGenes: HUgn257019
    ECgene: FRMD3 H-InvDB: FRMD3

    (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 FRMD3 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 FRMD3 gene:
    Search GeneIP for patents involving FRMD3

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



    (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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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