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C17orf80 Gene

protein-coding   GIFtS: 44
GCID: GC17P071228

Chromosome 17 Open Reading Frame 80

  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)
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Aliases
Chromosome 17 Open Reading Frame 801 2     Migration-Inducing Protein 31
Sperm-Expressed Protein 11 2     MIG32
Cell Migration-Inducing Gene 3 Protein2 3     SPEP12
Human Lung Cancer Oncogene 8 Protein2 3     Lung Cancer-Related Protein 82
HLC-82 3     Uncharacterized Protein C17orf802

External Ids:    HGNC: 296011   Entrez Gene: 550282   Ensembl: ENSG000001412197   UniProtKB: Q9BSJ53   

Export aliases for C17orf80 gene to outside databases

Previous GC identifers: GC17P068741 GC17P066637


(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 C17orf80 Gene:
C17orf80 (chromosome 17 open reading frame 80) is a protein-coding gene. Diseases associated with C17orf80 include postpoliomyelitis syndrome, and poliomyelitis.


(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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf80 gene promoter:
         AML1a   MEF-2   STAT1beta   MyoD   Nkx2-5   C/EBPalpha   GATA-2   MEF-2A   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC17orf80 promoter sequence
   Search Chromatin IP Primers for C17orf80

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf80


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

C17orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf80 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P071228:  view genomic region     (about GC identifiers)

Start:
71,228,372 bp from pter      End:
71,245,098 bp from pter
Size:
16,727 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CQ080_HUMAN, Q9BSJ5 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf80  
Size: 609 amino acids; 67315 Da
Sequence caution: Sequence=AAP72185.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91344.1; Type=Frameshift; Positions=121; Sequence=BAB15680.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: A8K9X3 Q5JB45 Q6YAU3 Q9H0L9 Q9H5E6 Q9NWN5
Alternative splicing: 3 isoforms:  Q9BSJ5-1   Q9BSJ5-2   Q9BSJ5-3   

Explore the universe of human proteins at neXtProt for C17orf80: NX_Q9BSJ5

Explore proteomics data for C17orf80 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C17orf80 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001094091.1  NP_001094092.1  NP_001275699.1  NP_001275700.1  NP_060411.2  

    ENSEMBL proteins: 
     ENSP00000255557   ENSP00000464132   ENSP00000462818   ENSP00000268942   ENSP00000396970  
     ENSP00000463019   ENSP00000440551   ENSP00000463718   ENSP00000351937  

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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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    ProtoNet protein and cluster: Q9BSJ5


    (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:0003674molecular_function ND--
         
    C17orf80 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C17orf80:
     Increased cell number in G2M,  

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target C17orf80:
    hsa-mir-125b-5p (MIRT046098), hsa-mir-16-5p (MIRT004375), hsa-mir-125a-5p (MIRT045779), hsa-mir-155-5p (MIRT020493), hsa-mir-15a-5p (MIRT003881)

    Block miRNA regulation of human, mouse, rat C17orf80 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate C17orf80:
    hsa-miR-19b hsa-miR-590-3p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidC17orf80 3' UTR sequence
    Inhib. RNA
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    (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 UniProtKB/Swiss-Prot
    CQ080_HUMAN, Q9BSJ5: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    C17orf80 for ontologies           About GeneDecksing


    (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 C17orf80
    Interactions:

        Search GeneGlobe Interaction Network for C17orf80

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    C17orf80 for ontologies           About GeneDecksing



    (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 C17orf80 (CQ080)



    (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,
    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 C17orf80 gene (5 alternative transcripts): 
    NM_001100621.2  NM_001100622.2  NM_001288770.1  NM_001288771.1  NM_017941.5  

    Unigene Cluster for C17orf80:

    Chromosome 17 open reading frame 80
    Hs.12929  [show with all ESTs]
    Unigene Representative Sequence: NM_017941
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255557(uc010wqu.1) ENST00000577615 ENST00000585109 ENST00000268942
    ENST00000426147(uc002jjk.1) ENST00000582391 ENST00000535032 ENST00000582793
    ENST00000359042(uc010dfj.3 uc002jjm.4 uc002jjl.4)
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate C17orf80:
    hsa-miR-19b hsa-miR-590-3p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidC17orf80 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C17orf80
    Predesigned siRNA for gene silencing in human, mouse, rat C17orf80
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C17orf80
    Primer
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    OriGene qPCR primer pairs and template standards for C17orf80
    OriGene qSTAR qPCR primer pairs in human, mouse for C17orf80
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C17orf80
      QuantiTect SYBR Green Assays in human, mouse, rat C17orf80
      QuantiFast Probe-based Assays in human, mouse, rat C17orf80

    Additional mRNA sequence: 

    AK000728.1 AK027166.1 AK292838.1 AK301905.1 AL136740.1 AY163812.1 AY239293.1 BC005005.2 

    11 DOTS entries:

    DT.100751259  DT.95269182  DT.100754745  DT.95287897  DT.102825595  DT.120979055  DT.120979096  DT.423629 
    DT.443604  DT.95226482  DT.95269183 

    Selected AceView cDNA sequences (see all 143):

    H84336 F09792 AI910475 BE328463 NM_017941 AA308552 BQ018309 AA722641 
    AW576319 AA908931 BU736238 BM475559 BU194891 AA400677 BU788930 AI277508 
    BC005005 CR612666 AW473463 AA295241 CB134766 BM770527 BX097211 BE880514 

    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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    C17orf80 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGAATACC
    C17orf80 Expression
    About this image

    C17orf80 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C17orf80 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12929
        Custom PCR Arrays for C17orf80
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf80

    (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 human and mouse.

    Orthologs for C17orf80 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D11Wsu47e1 , 5 DNA segment, Chr 11, Wayne State University 47, expressed1, 5 65.38(n)1
    49.45(a)1
      11 (79.15 cM)5
    2768521  NM_177777.51  NP_808445.21 
     1136844125 


    ENSEMBL Gene Tree for C17orf80 (if available)
    TreeFam Gene Tree for C17orf80 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C17orf80 gene

    C17orf80 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C17orf80
    PGOHUM00000240409


    (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 C17orf80 (see all 467)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1154584421,2
    F--71230542(+) AAACTA/GTAAGT 3 -- int11Minor allele frequency- G:0.01WA 118
    rs1828778441,2
    C--71230569(+) CTCACA/GCCTGT 3 -- int10--------
    rs711549821,2
    C--71230598(-) CGCCT-/TCGGCC 3 -- int11Minor allele frequency- T:0.00NA 2
    rs346090961,2
    C,F--71230680(+) CAAAAG/ATTAGC 3 -- int14Minor allele frequency- A:0.50NA WA 8
    rs348127801,2
    C--71230820(+) TCTCA-/AAAAAAA 3 -- int10--------
    rs1877304651,2
    --71230846(+) ATAAGC/TGAAAA 3 -- int10--------
    rs1385075611,2
    --71230904(+) ATTTTA/GTGTAT 3 -- int10--------
    rs1480119661,2
    C--71230912(+) ATATC-/TGTGTGT
    GTGTGTGTG
    TGTGT
    3 -- int10--------
    rs719767231,2
    C--71230913(+) TATCT-/TG/TGTGTG
    TGTGTGTGTGTG
    GTGTG
    6 -- int1 cds10--------
    rs1168288901,2
    F--71230930(+) TGTGTG/ATATAT 3 -- int11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for C17orf80 (71228372 - 71245098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C17orf80:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2138CNV Insertion18451855
    nsv833534CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C17orf80
    DNA2.0 Custom Variant and Variant Library Synthesis for C17orf80

    (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.)
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    4 diseases for C17orf80:    
    About MalaCards
    postpoliomyelitis syndrome    poliomyelitis    lung cancer    parkinson's disease

    1 disease from the University of Copenhagen DISEASES database for C17orf80:
    Poliomyelitis

    C17orf80 for disorders           About GeneDecksing


    Export disorders for C17orf80 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 C17orf80 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with C17orf80)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    6. Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M.... Kim N.S. (DNA Res. 2006)
    7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    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. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 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: 55028 HGNC: 29601 AceView: HLC-8 Ensembl:ENSG00000141219 euGenes: HUgn55028
    ECgene: C17orf80 H-InvDB: C17orf80

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for C17orf80 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 C17orf80 gene:
    Search GeneIP for patents involving C17orf80

    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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