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

CNTLN Gene

protein-coding   GIFtS: 50
GCID: GC09P017124

Centlein, Centrosomal Protein

(Previous names: chromosome 9 open reading frame 101, chromosome 9 open reading...)
(Previous symbols: C9orf101, C9orf39)
  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
Centlein, Centrosomal Protein1 2     Chromosome 9 Open Reading Frame 391
C9orf1011 2 3 5     RP11-340N12.12
C9orf391 2 3 5     bA340N12.12
Centrosomal Protein2 3     centlein2
Chromosome 9 Open Reading Frame 1011     

External Ids:    HGNC: 234321   Entrez Gene: 548752   Ensembl: ENSG000000444597   OMIM: 6118705   UniProtKB: Q9NXG03   

Export aliases for CNTLN gene to outside databases


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

GeneCards Summary for CNTLN Gene: 
CNTLN (centlein, centrosomal protein) is a protein-coding gene. Diseases associated with CNTLN include seckel syndrome, and senior-loken syndrome. GO annotations related to this gene include phosphorelay sensor kinase activity.


(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_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNTLN gene promoter:
         Elk-1   FOXF2   ATF-2   FOXD3   FOXO1a   Nkx2-5   c-Ets-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTLN promoter sequence
   Search SABiosciences Chromatin IP Primers for CNTLN

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


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

Entrez Gene cytogenetic band: 9p22.2   Ensembl cytogenetic band:  9p22.2   HGNC cytogenetic band: 9p22.2-p22.1

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P017124:  view genomic region     (about GC identifiers)

Start:
17,134,980 bp from pter      End:
17,503,921 bp from pter
Size:
368,942 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: CNTLN_HUMAN, Q9NXG0 (See protein sequence)
Recommended Name: Centlein  
Size: 1405 amino acids; 161603 Da
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole.
Note=Colocalizes with gamma-tubulin during interphase and mitosis. Appears to associated with the mother
centriole during G1 phase and with daughter centrioles towards G1/S phase (By similarity)
Sequence caution: Sequence=BAA91052.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB13850.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A5Z2X6 Q5VYJ0 Q8N1G9 Q9HAJ5
Alternative splicing: 3 isoforms:  Q9NXG0-1   Q9NXG0-2   Q9NXG0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNTLN: NX_Q9NXG0

Explore proteomics data for CNTLN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NXG0

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

    CNTLN Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001107867.1  NP_060208.2  

    ENSEMBL proteins: 
     ENSP00000370021   ENSP00000370015   ENSP00000392798   ENSP00000262360  

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    Cloud-Clone Corp. Proteins for CNTLN 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IEA--
    GO:0016020membrane IEA--

    CNTLN 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:
     IPR003661 Sig_transdc_His_kin_sub1_dim/P

    Graphical View of Domain Structure for InterPro Entry Q9NXG0

    ProtoNet protein and cluster: Q9NXG0

    1 Blocks protein domain: IPB003661 Histidine kinase A


    CNTLN 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155phosphorelay sensor kinase activity IEA--
         
    CNTLN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNTLN:
     Increased HPV18 LCR reporter a 

    Animal Models:
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    hsa-miR-548j hsa-miR-579 hsa-miR-4291 hsa-miR-4307 hsa-miR-640 hsa-miR-136 hsa-miR-4328 hsa-miR-485-3p
    SwitchGear 3'UTR luciferase reporter plasmidCNTLN 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTLN


    (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:

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

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

    1 Interacting protein for CNTLN (Q9NXG03 ENSP000003700214) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (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 CNTLN

    Search CenterWatch for drugs/clinical trials and news about CNTLN

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CNTLN gene (2 alternative transcripts): 
    NM_001114395.1  NM_017738.2  

    Unigene Cluster for CNTLN:

    Centlein, centrosomal protein
    Hs.435381  [show with all ESTs]
    Unigene Representative Sequence: BX647069
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484374(uc003zmw.2) ENST00000380647(uc003zmz.2 uc003zmy.3 uc010mio.3)
    ENST00000380641(uc003zmx.4) ENST00000461247 ENST00000425824 ENST00000262360

    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate CNTLN (see all 39):
    hsa-miR-548j hsa-miR-579 hsa-miR-4291 hsa-miR-4307 hsa-miR-640 hsa-miR-136 hsa-miR-4328 hsa-miR-485-3p
    SwitchGear 3'UTR luciferase reporter plasmidCNTLN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional mRNA sequence: 

    AK000283.1 AK021596.1 AK098502.1 AK303973.1 AK308837.1 BX647069.1 

    9 DOTS entries:

    DT.109718  DT.121154456  DT.65288655  DT.40194604  DT.40221609  DT.100641615  DT.100726098  DT.91718288 
    DT.40256500 

    24/65 AceView cDNA sequences (see all 65):

    AA481757 CR623494 CA390168 AA828123 N68372 BP352672 AI699339 AW628606 
    AI745309 AA481021 CA419838 BG209351 AA492222 AI792421 AA496789 BM479689 
    BG166427 AA329577 AW118219 AI816866 BQ001648 CA428767 BF448783 AA599746 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CNTLN    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                                                                                                                                                      
    SP2:                                                                                                                                                      
    SP3:                    -                                                                                                                                 
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for CNTLN

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.435381
        SABiosciences Custom PCR Arrays for CNTLN
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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 chordates.

    Orthologs for CNTLN gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntln1 , 5 centlein, centrosomal protein1, 5 82.27(n)1
    77.92(a)1
      4 (40.20 cM)5
    3383491  NM_175275.31  NP_780484.21 
     848843095 
    chicken
    (Gallus gallus)
    Aves CNTLN1 centlein, centrosomal protein 67.57(n)
    55.75(a)
      769413  XM_001232684.2  XP_001232685.2 
    lizard
    (Anolis carolinensis)
    Reptilia CNTLN6
    centlein, centrosomal protein
    55(a)
    1 ↔ 1
    2(36095150-36340460)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.46942 Xenopus laevis transcribed sequence with weak similarity more 79.36(n)    CA973550.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-9c8.11 si:dkeyp-9c8.1 55.19(n)
    45.35(a)
      560250  XM_683644.4  XP_688736.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CNTLN gene
    4 SIMAP similar genes for CNTLN using alignment to 3 protein entries:     CNTLN_HUMAN (see all proteins):
    EEF1E1    DPP9    RBP7    TNNT1

    CNTLN 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

    10/9756 SNPs in CNTLN are shown (see all 9756)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424293101,2
    --17133145(+) ACCAGC/GCTCGG 2 -- us2k10--------
    rs1876191501,2
    --17133176(+) GCAGTC/TGTGAG 2 -- us2k10--------
    rs1512719771,2
    --17133188(+) TACCAC/TGCCTG 2 -- us2k10--------
    rs1911817461,2
    --17133250(+) ATTTTA/GTGTAT 2 -- us2k10--------
    rs1829041461,2
    --17133337(+) ATACAC/TATTTA 2 -- us2k10--------
    rs1871545281,2
    --17133454(+) AAACAC/TGTAAC 2 -- us2k10--------
    rs3985271,2
    C,F,H--17133559(+) GTAGCG/AATCAA 2 -- us2k1 tfbs311Minor allele frequency- A:0.15NS EA NA WA 1212
    rs1919560581,2
    --17133563(+) CGATCA/GAAGTA 2 -- us2k10--------
    rs4219111,2
    H--17133627(+) taccaG/Cacatg 2 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 404
    rs1844212901,2
    --17133656(+) AGTAAA/CCTTGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CNTLN (17134980 - 17384980 bp, first 250kb of CNTLN)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for CNTLN (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738244CNV Deletion23290073
    esv2661216CNV Deletion23128226
    esv2666854CNV Deletion23128226
    esv2422265CNV Duplication17116639
    esv268392CNV Insertion20981092
    nsv892665CNV Loss21882294
    nsv892668CNV Loss21882294
    nsv466270CNV Loss19166990
    nsv466273CNV Loss19166990
    nsv892664CNV Loss21882294

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611870    OMIM disorders: --

    7 diseases for CNTLN:    About MalaCards
    seckel syndrome    senior-loken syndrome    cystic kidney    leber congenital amaurosis
    microcephaly    fanconi's anemia    anemia

    3 diseases from the University of Copenhagen DISEASES database for CNTLN:
    Seckel syndrome     Microcephaly     Leber congenital amaurosis

    CNTLN for disorders           About GeneDecksing

    Genetic Association Database (GAD): CNTLN
    Human Genome Epidemiology (HuGE) Navigator: CNTLN (4 documents)

    Export disorders for CNTLN 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 CNTLN gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with CNTLN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (2012)
    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. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. A genome-wide association study identifies a new ovar ian cancer susceptibility locus on 9p22.2. (PubMed id 19648919)1, 4 Song H....Ziogas A. (2009)
    5. Identification and characterization of the novel centrosomal protein centlein. (PubMed id 18086554)1, 3 Makino K....Nakanishi H. (2008)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. A regulatory circuit that involves HR23B and HDAC6 gov erns the biological response to HDAC inhibitors. (PubMed id 23703321)1 New M....La Thangue N.B. (2013)
    9. Genome-wide association study of d-amphetamine respons e in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PubMed id 22952603)1 Hart A.B....Palmer A.A. (2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

    (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: 54875 HGNC: 23432 AceView: C9orf39 Ensembl:ENSG00000044459 euGenes: HUgn54875
    ECgene: CNTLN H-InvDB: CNTLN

    (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 CNTLN 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 CNTLN gene:
    Search GeneIP for patents involving CNTLN

    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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