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

NXF5 Gene

protein-coding   GIFtS: 51
GCID: GC0XM101087

nuclear RNA export factor 5

 Explore 6 diseases affiliated with
NXF5 via our new
 Human Malady Compendium 
Biological research products
for NXF5
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nuclear RNA Export Factor 51 2
TAPL-12 3
TAP-Like Protein 12 3
TAPL13

External Ids:    HGNC: 80751   Entrez Gene: 559982   Ensembl: ENSG000001269527   OMIM: 3003195   UniProtKB: Q9H1B43   
ORGUL members:         
NONCODE:n408139    

Export aliases for NXF5 gene to outside databases

Previous GC identifers: GC0XM096378 GC0XM098028 GC0XM099122 GC0XM099858 GC0XM100893 GC0XM100973 GC0XM090894


(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 NXF5:
This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is
implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other
family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced
transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express
proteins in vivo. (provided by RefSeq, Jul 2009)

UniProtKB/Swiss-Prot: NXF5_HUMAN, Q9H1B4
Function: Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in
polarized cytoplasmic transport and localization of mRNA in neurons




(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_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NXF5
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNXF5 promoter sequence
   Search SABiosciences Chromatin IP Primers for NXF5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NXF5


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

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22

NXF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NXF5 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM101087:  view genomic region     (about GC identifiers)

Start:
101,087,085 bp from pter      End:
101,112,549 bp from pter
Size:
25,465 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: NXF5_HUMAN, Q9H1B4 (See protein sequence)
Recommended Name: Nuclear RNA export factor 5  
Size: 397 amino acids; 45628 Da
Subunit: Interacts with NXT1 and NXT2
Subcellular location: Cytoplasm. Nucleus. Note=Mainly localized in the cytoplasm of cells and more particularly in the
cell body and neurites of hippocampal neurons. Although nuclear localization is also observed. Not detected at nuclear
rim
Secondary accessions: A2RRM0 B1AV82 B1AV83 B1AV84 B1AV85 Q9H1B0 Q9H1B1 Q9H1B2 Q9H1B3
Alternative splicing: 6 isoforms:  Q9H1B4-1   Q9H1B4-2   Q9H1B4-3   Q9H1B4-4   Q9H1B4-5   Q9H1B4-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for NXF5: NX_Q9H1B4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H1B4

  • NXF5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_116564.2  
    ENSEMBL proteins: 
     ENSP00000263032   ENSP00000361889   ENSP00000422976   ENSP00000354539   ENSP00000331535  
     ENSP00000426978   ENSP00000442401   ENSP00000355286  

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    Uscn Proteins for NXF5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0015629actin cytoskeleton IDA--


    NXF5 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

    NXF5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015245 Tap_RNA-bd
     IPR001611 Leu-rich_rpt
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q9H1B4

    ProtoNet protein and cluster: Q9H1B4

    1 Blocks protein family: IPB002075 Nuclear transport factor 2 (NTF2)

    UniProtKB/Swiss-Prot: NXF5_HUMAN, Q9H1B4
    Domain: The NTF2 domain heterodimerizes with NXT1 and NXT2 (By similarity)
    Domain: The RNA-binding domain is a non-canonical RNP-type domain
    Similarity: Belongs to the NXF family
    Similarity: Contains 4 LRR (leucine-rich) repeats
    Similarity: Contains 1 NTF2 domain
    Similarity: Contains 1 RRM (RNA recognition motif) 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: NXF5_HUMAN, Q9H1B4
    Function: Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in
    polarized cytoplasmic transport and localization of mRNA in neurons

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding IDA11566096
    GO:0005515protein binding IPI11566096


    NXF5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NXF5:
     Cell cycle / mitosis defect 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA surveillance pathway
    mRNA surveillance pathway1.00
    2Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes1.00
    3RNA transport
    RNA transport1.00
    4Measles
    Influenza A0.35

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    4         Kegg Pathways  (Kegg details for NXF5):
        Ribosome biogenesis in eukaryotes
    RNA transport
    mRNA surveillance pathway
    Influenza A


    NXF5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NXF5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for NXF5 (ENSP000002630324) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALYREFENSP000003318174STRING: ENSP00000331817
    EIF4A3ENSP000002693494STRING: ENSP00000269349
    NUP98ENSP000003160324STRING: ENSP00000316032
    NUPL2ENSP000002587424STRING: ENSP00000258742
    NXT1ENSP000002549984STRING: ENSP00000254998
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006406mRNA export from nucleus IDA11566096
    GO:0007275multicellular organismal development IEP11566096
    GO:0050658RNA transport IDA11566096


    NXF5 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 NXF5
    Search CenterWatch for drugs/clinical trials and news about NXF5 

    (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,
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    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 NXF5 gene (5 alternative transcripts): 
    NM_032946.2  NM_033152.1  NM_033153.1  NM_033154.1  NM_033155.1  

    Unigene Cluster for NXF5:

    Nuclear RNA export factor 5
    Hs.307077
    Unigene Representative Sequence: AJ277654
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263032(uc004eih.1) ENST00000372803(uc004eij.1) ENST00000493509(uc004eii.1)
    ENST00000361330(uc004eik.1) ENST00000332614(uc004eil.1) ENST00000473265
    ENST00000537026(uc011mrk.1) ENST00000361708

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    Additional cDNA sequence: 

    AJ277654.1 AJ277655.1 AJ277656.1 AJ277657.1 AJ277658.1 BC131708.1 NR_028089.1 

    1 DOTS entry:

    DT.91758145 

    10 AceView cDNA sequences:

    NM_033152 NM_033154 AJ277657 AJ277656 AJ277658 NM_033155 NM_033153 NM_032946 
    AJ277654 AJ277655 

    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

    NXF5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See NXF5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NXF5

    SOURCE GeneReport for Unigene cluster: Hs.307077
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    In Situ
    Assay Products:
     

     
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    (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 NXF5 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    31(a)
    1 → many
    GL343739.1(139249-168794)
    zebrafish
    (Danio rerio)
    Actinopterygii CU468164.26
    nxf16
    (see all 4)
    nuclear RNA export factor 1
    (see all 4)
    45(a)
    26(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    14(9002608-9013043)
    21(26058501-26071321)
    fruit fly
    (Drosophila melanogaster)
    Insecta nxf26
    sbr6
    (see all 3)
    small bristles
    (see all 3)
    9(a)
    15(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    3L(16569959-16573406)
    X(10726785-10741125)
    worm
    (Caenorhabditis elegans)
    Secernentea nxf-26
    nxf-16
    Nuclear RNA export factor 1
    18(a)
    14(a)
    possible ortholog
    possible ortholog
    V(14416100-14417814)
    V(14412390-14415777)


    ENSEMBL Gene Tree for NXF5 (if available)
    TreeFam Gene Tree for NXF5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NXF5 gene
    NXF12  NXF32  NXF2B2  NXF22  
    4 SIMAP similar genes for NXF5 using alignment to 2 protein entries:     NXF5_HUMAN (see all proteins):
    NXF2B    NXF2    NXF1    NXF3

    NXF5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NXF5
    PGOHUM00000241917


    (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

    10/368 NCBI SNPs in NXF5 are shown (see all 368    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904867601,2
    --101086616(+) AATGTC/GAGATT 2 -- ds50010--------
    rs1817991521,2
    --101086667(+) TGAACC/TCCTTC 2 -- ds50010--------
    rs1474580011,2
    --101086750(+) CCCACC/TGCAGG 2 -- ds50010--------
    rs59450791,2
    C,F,A,H,--101086822(+) TGGAAG/CCCCCT 2 -- ds50015Minor allele frequency- C:0.02NS EA NA 410
    rs1405803361,2
    --101086870(+) AGGTCA/GAGCAT 2 -- ds50010--------
    rs1896031401,2
    --101086922(+) GGGCGC/TGTGTC 2 -- ds50010--------
    rs1445316941,2
    --101086976(+) GCCAGA/TTCATT 2 -- ds50010--------
    rs66163051,2
    C,F,A,H,--101087051(+) CTCATG/CGTTGG 2 -- ds50018Minor allele frequency- C:0.10NS EA NA WA 426
    rs1813221251,2
    --101087058(+) TTGGGG/TCAGGG 2 -- ds50010--------
    rs1854552681,2
    --101087082(+) GGGCAC/TACAAC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for NXF5 (101087085 - 101112549 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NXF5: --
    Human Gene Mutation Database (HGMD): NXF5

    Locus Specific Mutation Databases (LSDB): NXF5

    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

    NXF5 for disorders           About GeneDecksing

    OMIM gene information: 300319    OMIM disorders: --

    UniProtKB/Swiss-Prot: NXF5_HUMAN, Q9H1B4
  • Note=A chromosomal aberration involving NXF5 has been observed in one patient with a syndromic form of mental
  • retardation and short stature. Pericentric inversion inv(X)(p21.1;q22) that interrupts NXF5

    6 diseases for NXF5:    About MalaCards
    pelizaeus-merzbacher disease    premature ovarian failure    short stature    intellectual disability
    influenza    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NXF5:
    Premature ovarian failure

    Export disorders for NXF5 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 NXF5 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with NXF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. (PubMed id 11566096)1, 2, 3, 9 Jun L.... Froyen G. (2001)
    2. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    3. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. (PubMed id 12784308)1, 9 Frints S.G....Froyen G. (2003)
    4. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (PubMed id 19377476)1 Tarpey P.S.... Stratton M.R. (2009)
    5. Formation of a Tap/NXF1 Homotypic Complex Is Mediated through the Amino-Terminal Domain of Tap and Enhances Interaction with Nucleoporins. (PubMed id 17978099)1 Matzat L.H....Levesque L. (2008)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    8. 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)
    9. 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)
    10. TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture. (PubMed id 11073998)1 Herold A.... Izaurralde E. (2000)

    (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: 55998 HGNC: 8075 AceView: NXF5 Ensembl:ENSG00000126952 euGenes: HUgn55998
    ECgene: NXF5 Kegg: 55998 H-InvDB: NXF5

    (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 NXF5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NXF5 gene:
    Search GeneIP for patents involving NXF5

    GeneCards and IP:
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