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

FNIP2 Gene

protein-coding   GIFtS: 47
GCID: GC04P159690

Folliculin Interacting Protein 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Folliculin Interacting Protein 21 2     O6-Methylguanine-Induced Apoptosis 1 Protein2 3
FNIPL2 3 5     KIAA14503 5
MAPO12 3     O6-Methylguanine-Induced Apoptosis 11
FNIP1-Like Protein2 3     Folliculin-Interacting Protein 22

External Ids:    HGNC: 292801   Entrez Gene: 576002   Ensembl: ENSG000000527957   OMIM: 6127685   UniProtKB: Q9P2783   

Export aliases for FNIP2 gene to outside databases

Previous GC identifers: GC04P159911 GC04P155440


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

GeneCards Summary for FNIP2 Gene: 
FNIP2 (folliculin interacting protein 2) is a protein-coding gene. Diseases associated with FNIP2 include oxyphilic adenoma, and pneumothorax. GO annotations related to this gene include protein binding. An important paralog of this gene is FNIP1.

UniProtKB/Swiss-Prot: FNIP2_HUMAN, Q9P278
Function: May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired
lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling
pathways. May regulate phosphorylation of RPS6KB1




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FNIP2 gene promoter:
         SREBP-1c   NF-E2 p45   HNF-3beta   LCR-F1   SREBP-1b   PPAR-gamma1   SREBP-1a   HFH-1   PPAR-gamma2   NF-E2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FNIP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FNIP2


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

Entrez Gene cytogenetic band: 4q32.1   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q32.1

FNIP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FNIP2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P159690:  view genomic region     (about GC identifiers)

Start:
159,690,182 bp from pter      End:
159,829,201 bp from pter
Size:
139,020 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FNIP2_HUMAN, Q9P278 (See protein sequence)
Recommended Name: Folliculin-interacting protein 2  
Size: 1114 amino acids; 122115 Da
Subunit: Forms homomultimers and heteromultimers with FNIP1. Interacts (via C-terminus) with FLCN (via
C-terminus). Phosphorylated FLCN is preferentially bound. Interacts with PRKAA1, PRKAB1 and PRKAG1 subunits of
5'-AMP-activated protein kinase
Subcellular location: Cytoplasm. Note=Co-localizes with FLCN in the cytoplasm
Miscellaneous: Elevated expression levels in histologic variants of renal tumors
Sequence caution: Sequence=AAH07861.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH16638.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=BAA95974.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB14338.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q05DC3 Q96I31 Q9H994
Alternative splicing: 2 isoforms:  Q9P278-1   Q9P278-2   

Explore the universe of human proteins at neXtProt for FNIP2: NX_Q9P278

Explore proteomics data for FNIP2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by AMPK
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P278

  • FNIP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FNIP2 Protein Expression
    REFSEQ proteins: NP_065891.1  
    ENSEMBL proteins: 
     ENSP00000264433   ENSP00000421488   ENSP00000420841   ENSP00000368651  

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    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:0005886plasma membrane IDA--

    FNIP2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026156 FNIP_fam

    Graphical View of Domain Structure for InterPro Entry Q9P278

    ProtoNet protein and cluster: Q9P278

    UniProtKB/Swiss-Prot: FNIP2_HUMAN, Q9P278
    Similarity: Belongs to the FNIP family


    FNIP2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FNIP2_HUMAN, Q9P278
    Function: May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired
    lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling
    pathways. May regulate phosphorylation of RPS6KB1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18403135
         
    FNIP2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FNIP2

    2 Interacting proteins for FNIP2 (Q9P2782, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLI2P100703I2D: score=2 
    --Q76JQ22MINT-7298229
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0001932regulation of protein phosphorylation IDA18663353
    GO:0006468protein phosphorylation IDA18663353
    GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage ISS--
    GO:0033138positive regulation of peptidyl-serine phosphorylation IDA19914239

    FNIP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FNIP2

    Search CenterWatch for drugs/clinical trials and news about FNIP2

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for FNIP2 gene: 
    NM_020840.1  

    Unigene Clusters for FNIP2:

    Folliculin interacting protein 2
    Hs.652441  [show with all ESTs], Hs.731810  [show with all ESTs]
    Unigene Representative Sequences: AK057981, NM_020840
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264433(uc003iqe.4) ENST00000504704(uc003iqd.2) ENST00000505445
    ENST00000512986 ENST00000504715 ENST00000505130 ENST00000379346
    miRNA
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    Additional mRNA sequence: 

    AB040883.1 AK022968.1 BC007861.1 BC016638.1 BC047069.1 

    7 DOTS entries:

    DT.214307  DT.91958645  DT.100790618  DT.95089673  DT.95309261  DT.95368336  DT.97791168 

    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

    FNIP2 expression in normal human tissues (normalized intensities)      FNIP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATACTTCCA
    FNIP2 Expression
    About this image


    FNIP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells I Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen

    See FNIP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FNIP2

    SOURCE GeneReport for Unigene clusters: Hs.652441 Hs.731810

    UniProtKB/Swiss-Prot: FNIP2_HUMAN, Q9P278
    Tissue specificity: Widely expressed with highest levels in muscle, nasal mucosa, salivary gland, uvula, fat,
    liver, heart, placenta and pancreas. Moderately expressed in the lung, small intestine, kidney and brain. Lower
    levels detected in renal cell carcinoma than in normal kidney tissue. Higher levels detected in oncocytoma than
    in normal kidney

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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 FNIP2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fnip21 , 5 folliculin interacting protein 21, 5 80.96(n)1
    79.56(a)1
      3 (34.91 cM)5
    3296791  NM_001162999.21  NP_001156471.11 
     794559745 
    chicken
    (Gallus gallus)
    Aves FNIP21 folliculin interacting protein 2 68.64(n)
    70.07(a)
      422417  XM_420386.3  XP_420386.2 
    lizard
    (Anolis carolinensis)
    Reptilia FNIP26
    folliculin interacting protein 2
    62(a)
    1 ↔ 1
    5(128288547-128345520)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-42i9.81 si:ch211-42i9.8 64.02(n)
    66.35(a)
      797213  NM_001145618.1  NP_001139090.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37646
    --
    14(a)
    1 → many
    3L(16987817-17005665)
    worm
    (Caenorhabditis elegans)
    Secernentea T04C4.16
    Protein T04C4.1, isoform a
    13(a)
    1 → many
    IV(2222828-2235711)


    ENSEMBL Gene Tree for FNIP2 (if available)
    TreeFam Gene Tree for FNIP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FNIP2 gene
    FNIP12  
    2 SIMAP similar genes for FNIP2 using alignment to 3 protein entries:     FNIP2_HUMAN (see all proteins):
    DKFZp686E18167    FNIP1

    FNIP2 for paralogs           About GeneDecksing



    (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) 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

    10/2014 SNPs in FNIP2 are shown (see all 2014)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348950701,2
    C--159606111(+) TTTTT-/T/TT  
            
    GACAG
    1 -- int11NA 2
    rs1498613951,2
    --159688239(+) ACCAGA/GATGAG 1 -- us2k10--------
    rs42349231,2
    C,F,A,H--159688477(+) CTGAAC/AGAGTC 1 -- us2k122Minor allele frequency- A:0.43NS EA NA WA CSA 2344
    rs1448294831,2
    --159688592(+) AAAGGA/TCATTT 1 -- us2k10--------
    rs1884293691,2
    --159688677(+) ACAACC/GTATAA 1 -- us2k10--------
    rs1807494241,2
    --159688684(+) ATAAAC/GCCAAT 1 -- us2k10--------
    rs1419565181,2
    C--159688828(+) TAAAC-/ACTT  
            
    AATCC
    1 -- us2k10--------
    rs46915191,2
    C--159688858(+) AAGTCT/CGAAGG 1 -- us2k112Minor allele frequency- C:0.02NA WA CSA EA 374
    rs1401100011,2
    --159689057(+) TGAGTA/CTCCAA 1 -- us2k10--------
    rs1866588301,2
    --159689063(+) TCCAAA/GAGTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FNIP2 (159690182 - 159829201 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for FNIP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2728614CNV Deletion23290073
    esv2607605CNV Deletion19546169
    esv2728615CNV Deletion23290073
    esv2675186CNV Deletion23128226
    nsv4570CNV Loss18451855
    esv23058CNV Loss19812545
    nsv830127CNV Loss17160897
    esv22076CNV Loss19812545
    nsv830128CNV Gain17160897
    nsv830125CNV Gain17160897

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    (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.)
    About This Section
    OMIM gene information: 612768    OMIM disorders: --

    4 diseases for FNIP2:    About MalaCards
    oxyphilic adenoma    pneumothorax    adenoma    renal cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for FNIP2:
    Pneumothorax

    FNIP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FNIP2
    Human Genome Epidemiology (HuGE) Navigator: FNIP2 (1 document)

    Export disorders for FNIP2 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 FNIP2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FNIP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel folliculin-interacting protein FNIP2. (PubMed id 18403135)1, 2, 3 Hasumi H.... Schmidt L.S. (2008)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. (PubMed id 18663353)1, 2 Takagi Y....Hino O. (2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
    6. Stabilization of MAPO1 by specific binding with follic ulin and AMP-activated protein kinase in O^6-methylguanine-induced apoptosis. (PubMed id 23201403)1 Sano S....Hidaka M. (2013)
    7. Serine 62 is a phosphorylation site in folliculin, th e Birt-Hogg-DubAc gene product. (PubMed id 19914239)1 Wang L....Hino O. (2010)
    8. A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. (PubMed id 19137017)2 Komori K....Hidaka M. (2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (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: 57600 HGNC: 29280 Ensembl:ENSG00000052795 euGenes: HUgn57600 ECgene: FNIP2
    H-InvDB: FNIP2

    (According to HUGE)
    About This Section
    HUGE: KIAA1450

    (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 FNIP2 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 FNIP2 gene:
    Search GeneIP for patents involving FNIP2

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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