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FAM111B Gene

protein-coding   GIFtS: 47
GCID: GC11P058874

Family With Sequence Similarity 111, Member B

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Family With Sequence Similarity 111, Member B1 2
Cancer-Associated Nucleoprotein2 3
CANP2 3
POIKTMP2 5
Protein FAM111B2

External Ids:    HGNC: 242001   Entrez Gene: 3743932   Ensembl: ENSG000001890577   OMIM: 6155845   UniProtKB: Q6SJ933   

Export aliases for FAM111B gene to outside databases

Previous GC identifers: GC11P058632 GC11P055220


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM111B Gene:
FAM111B (family with sequence similarity 111, member B) is a protein-coding gene. Diseases associated with FAM111B include hereditary sclerosing poikiloderma with tendon and pulmonary involvement. An important paralog of this gene is FAM111A.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM111B gene promoter:
         RORalpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM111B promoter sequence
   Search Chromatin IP Primers for FAM111B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM111B


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

Entrez Gene cytogenetic band: 11q12.1   Ensembl cytogenetic band:  11q12.1   HGNC cytogenetic band: 11q12.1

FAM111B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM111B gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P058874:  view genomic region     (about GC identifiers)

Start:
58,874,658 bp from pter      End:
58,894,888 bp from pter
Size:
20,231 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F111B_HUMAN, Q6SJ93 (See protein sequence)
Recommended Name: Protein FAM111B  
Size: 734 amino acids; 84674 Da
Sequence caution: Sequence=AAH62456.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: B4E2G2 Q6P661
Alternative splicing: 2 isoforms:  Q6SJ93-1   Q6SJ93-2   

Explore the universe of human proteins at neXtProt for FAM111B: NX_Q6SJ93

Explore proteomics data for FAM111B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62, Lys102, Lys382, Lys429
  • Modification sites at PhosphoSitePlus

  • See FAM111B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001136175.1  NP_001136176.1  NP_945185.1  

    ENSEMBL proteins: 
     ENSP00000432875   ENSP00000432143   ENSP00000341565   ENSP00000393855  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry Q6SJ93

    ProtoNet protein and cluster: Q6SJ93

    UniProtKB/Swiss-Prot: F111B_HUMAN, Q6SJ93
    Similarity: Belongs to the FAM111 family


    FAM111B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
         
    FAM111B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM111B
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    miRTarBase miRNAs that target FAM111B:
    hsa-mir-192-5p (MIRT026841)

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM111B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAM111B
    Interactions:

        Search GeneGlobe Interaction Network for FAM111B

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

    1 Interacting protein for FAM111B (ENSP000003415654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM111B (F111B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM111B gene (3 alternative transcripts): 
    NM_001142703.1  NM_001142704.1  NM_198947.3  

    Unigene Cluster for FAM111B:

    Family with sequence similarity 111, member B
    Hs.186579  [show with all ESTs]
    Unigene Representative Sequence: NM_198947
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528234 ENST00000529618 ENST00000534403 ENST00000343597(uc001nnl.3)
    ENST00000411426(uc001nnm.3 uc010rko.2)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidFAM111B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM111B
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM111B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM111B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FAM111B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FAM111B
      QuantiTect SYBR Green Assays in human, mouse, rat FAM111B
      QuantiFast Probe-based Assays in human, mouse, rat FAM111B

    Additional mRNA sequence: 

    AK303520.1 AK304258.1 AY457926.1 BC005998.1 BC062456.1 BC130513.1 BC130539.1 BC144078.1 

    3 DOTS entries:

    DT.40214968  DT.91751392  DT.409512 

    Selected AceView cDNA sequences (see all 29):

    BM716746 NM_198947 BQ014206 AI806359 AW500244 AA278964 BX279565 AY457926 
    AA278305 AA768088 BG393116 BM674379 BC005998 BG613098 BU431348 BF980482 
    BF207688 AA960844 AW014033 BC062456 BG390686 N87918 AW845973 BF028721 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FAM111B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTCTTAAA
    FAM111B Expression
    About this image

    FAM111B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM111B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.186579
        Custom PCR Arrays for FAM111B
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM111B
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    QuantiFast Probe-based Assays in human, mouse, rat FAM111B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM111B

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FAM111B gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia FAM111B1 family with sequence similarity 111, member B 77.79(n)
    61.97(a)
      609897  XM_847246.2  XP_852339.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    34(a)
    1 → many
    1(91216226-91227509)
    zebrafish
    (Danio rerio)
    Actinopterygii CR450726.16
    FP102192.16
    Uncharacterized protein
    23(a)
    21(a)
    many ↔ many
    many ↔ many
    5(7947916-7950134) ENSDARG00000067528
    5(8033742-8035457) ENSDARG00000089782


    ENSEMBL Gene Tree for FAM111B (if available)
    TreeFam Gene Tree for FAM111B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM111B gene
    FAM111A2  
    1 SIMAP similar gene for FAM111B using alignment to 2 protein entries:     F111B_HUMAN (see all proteins):
    FAM111A

    FAM111B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FAM111B
    PGOHUM00000244292


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FAM111B (see all 506)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs672749401,2
    C--58872664(+) TTTTA-/AC    
       
    /ACAC
    CACAC
    3 -- us2k10--------
    rs574547731,2
    C--58872685(+) CACAC-/AC    
       
    /ACAC
    CCCAC
    3 -- us2k11NA 2
    rs1919225361,2
    C--58872734(+) ATCCTC/TCTAGT 3 -- us2k10--------
    rs108969191,2
    C,F,A,H--58872960(+) GTCCTA/CCCAGA 3 -- us2k116Minor allele frequency- C:0.30NS EA NA WA CSA 676
    rs1851531841,2
    --58872964(+) TCCCAG/TAGTCT 3 -- us2k10--------
    rs1903448451,2
    --58872965(+) CCCAGA/GGTCTT 3 -- us2k10--------
    rs1820317641,2
    --58873073(+) ATAGCA/CAAATC 3 -- us2k10--------
    rs1874627691,2
    --58873124(+) GGAATC/GTGCAG 3 -- us2k10--------
    rs1881643371,2
    --58873341(+) GATGAC/TTCAAG 3 -- us2k10--------
    rs1808815421,2
    C--58873373(+) CTGTCA/GTTAAG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM111B (58874658 - 58894888 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM111B (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744562CNV Deletion23290073
    dgv158e201CNV Deletion23290073
    nsv331CNV Insertion18451855
    nsv428258CNV Loss18775914
    nsv468578CNV Loss19166990
    nsv471671CNV Gain15918152
    dgv14n68CNV Gain17160897
    nsv469559CNV Complex16826518
    dgv386e1CNV Complex17122850
    dgv387e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): FAM111B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM111B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM111B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615584   
    OMIM disorders: 615704  
    1 disease for FAM111B:    About MalaCards
    hereditary sclerosing poikiloderma with tendon and pulmonary involvement


    FAM111B for disorders           About GeneDecksing


    Export disorders for FAM111B 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)
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    PubMed articles for FAM111B gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with FAM111B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (PubMed id 24268661)1, 3 Mercier S....Mayosi B.M. (Am. J. Hum. Genet. 2013)
    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. (Genome Res. 2004)
    3. Identification of novel ATP13A2 interactors and their role in I+-synuclein misfolding and toxicity. (PubMed id 22645275)1 Usenovic M....Krainc D. (Hum. Mol. Genet. 2012)
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    5. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 374393 HGNC: 24200 AceView: CANP Ensembl:ENSG00000189057 euGenes: HUgn374393
    ECgene: FAM111B H-InvDB: FAM111B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FAM111B 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 FAM111B gene:
    Search GeneIP for patents involving FAM111B

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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