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SPAG17 Gene

protein-coding   GIFtS: 44
GCID: GC01M118496

Sperm Associated Antigen 17

  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
Sperm Associated Antigen 171 2
Projection Protein PF6 Homolog2 3
CT1432
PF62
Sperm-Associated Antigen 172

External Ids:    HGNC: 266201   Entrez Gene: 2001622   Ensembl: ENSG000001557617   UniProtKB: Q6Q7593   

Export aliases for SPAG17 gene to outside databases

Previous GC identifers: GC01M118209 GC01M118297 GC01M116352


(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 SPAG17 Gene:
SPAG17 (sperm associated antigen 17) is a protein-coding gene. Diseases associated with SPAG17 include thyroid cancer, and crohn's disease.

UniProtKB/Swiss-Prot: SPG17_HUMAN, Q6Q759
Function: Seems to be important for the structural integrity of the central apparatus of the sperm axoneme (By
similarity)




(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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPAG17 gene promoter:
         TBP   Pbx1a   NCX/Ncx   Nkx2-5   HNF-3beta   Cdc5   Meis-1b   Roaz   S8   Meis-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG17 promoter sequence
   Search Chromatin IP Primers for SPAG17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPAG17


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

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

SPAG17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG17 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M118496:  view genomic region     (about GC identifiers)

Start:
118,496,288 bp from pter      End:
118,727,848 bp from pter
Size:
231,561 bases      Orientation:
minus 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: SPG17_HUMAN, Q6Q759 (See protein sequence)
Recommended Name: Sperm-associated antigen 17  
Size: 2223 amino acids; 251742 Da
Subunit: Interacts (via the C-terminus) with SPAG6; the interaction probably occurs on polymerized microtubules
(By similarity)
Secondary accessions: Q8NAZ1 Q9NT21

Explore the universe of human proteins at neXtProt for SPAG17: NX_Q6Q759

Explore proteomics data for SPAG17 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPAG17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_996879.1  
    ENSEMBL proteins: 
     ENSP00000337804   ENSP00000402749  

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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:
     IPR026173 SPAG17

    Graphical View of Domain Structure for InterPro Entry Q6Q759

    ProtoNet protein and cluster: Q6Q759


    SPAG17 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPG17_HUMAN, Q6Q759
    Function: Seems to be important for the structural integrity of the central apparatus of the sperm axoneme (By
    similarity)

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPAG17
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPAG17
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    Predesigned siRNA for gene silencing in human, mouse, rat SPAG17

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAG17


    (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
    SPG17_HUMAN, Q6Q759: Cytoplasm (By similarity). Cytoplasm, cytoskeleton, flagellum axoneme (By similarity).
    Note=Detected in the cytoplasm of round spermatids and in condensing spermatids. Localized to the central pair of
    the sperm flagellar axoneme. Colocalizes with SPAG6 on microtubules (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytoskeleton3
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005874microtubule IEA--
    GO:0036126sperm flagellum IEA--

    SPAG17 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 SPAG17
    Interactions:

        GeneGlobe Interaction Network for SPAG17

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SPAG17 (Q6Q7593 ENSP000003378044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPAG6O756023, ENSP000003658114I2D: score=1 STRING: ENSP00000365811
    KPNA6ENSP000003627284STRING: ENSP00000362728
    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 SPAG17 (SPG17)



    (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 SPAG17 gene: 
    NM_206996.2  

    Unigene Cluster for SPAG17:

    Sperm associated antigen 17
    Hs.528821  [show with all ESTs]
    Unigene Representative Sequence: NM_206996
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466857 ENST00000478697 ENST00000336338(uc021oss.1 uc001ehk.2)
    ENST00000469128 ENST00000437255(uc021osr.1) ENST00000492438 ENST00000483383
    ENST00000470550 ENST00000486589 ENST00000477444 ENST00000473472 ENST00000463628
    ENST00000465053
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SPAG17
      QuantiFast Probe-based Assays in human, mouse, rat SPAG17

    Additional mRNA sequence: 

    AK055194.1 AK091816.1 AK126319.1 AK126327.1 AL137581.1 AL833485.1 AY555274.1 BC043251.1 
    BX648110.1 HM370394.1 

    9 DOTS entries:

    DT.206431  DT.40117863  DT.95260087  DT.423063  DT.75167734  DT.40299735  DT.99996169  DT.121463804 
    DT.40122681 

    Selected AceView cDNA sequences (see all 46):

    AI871833 AW104397 AI806349 AW976069 AI635670 BU101789 NM_206996 AI791173 
    BQ013718 AA669516 BM983923 BX282623 AI015914 AA970955 BX282504 AW628528 
    AA608775 AY555274 AK126319 AL137581 BG195042 AK126327 BX282121 AL042513 

    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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    SPAG17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCGTAAAG
    SPAG17 Expression
    About this image


    SPAG17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    SPAG17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPAG17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528821

    UniProtKB/Swiss-Prot: SPG17_HUMAN, Q6Q759
    Tissue specificity: Highly expressed in testis. Expressed in organs that contain cilia-bearing cells including
    brain, oviduct, lung, and uterus

        Custom PCR Arrays for SPAG17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAG17

    (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 SPAG17 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spag171 , 5 sperm associated antigen 171, 5 78.87(n)1
    73.3(a)1
      3 (43.25 cM)5
    743621  NM_028892.41  NP_083168.31 
     998854065 
    chicken
    (Gallus gallus)
    Aves SPAG171 sperm associated antigen 17 60.1(n)
    50.94(a)
      418315  XM_416538.4  XP_416538.4 
    lizard
    (Anolis carolinensis)
    Reptilia SPAG176
    sperm associated antigen 17
    47(a)
    1 ↔ 1
    GL343218.1(775082-872424)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1001705021 uncharacterized LOC100170502 54.56(n)
    47.43(a)
      100170502  NM_001130282.1  NP_001123754.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-208b23.51 si:dkey-208b23.5 51.5(n)
    41.14(a)
      561115  XM_684518.5  XP_689610.5 


    ENSEMBL Gene Tree for SPAG17 (if available)
    TreeFam Gene Tree for SPAG17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 SPAG17 (see all 4093)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0428674
    A colorectal cancer sample4--see VAR_0428672 D E mis40--------
    rs1872837421,2
    --118503557(+) TTTTTA/CATCTG 1 -- int10--------
    rs726975561,2
    C,F--118503584(+) TTCAGA/GTCTCC 1 -- int11Minor allele frequency- G:0.03NA 120
    rs1465136281,2
    C--118503766(+) CTGGGC/TGTGGT 1 -- int10--------
    rs1901287621,2
    --118503777(+) GGCAGA/GCGCTT 1 -- int10--------
    rs781293911,2
    C--118503821(+) GAATCG/ACTTGA 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs75227391,2
    C,F--118503830(+) gaaccC/Tggcag 1 -- int11Minor allele frequency- T:0.50WA 2
    rs774834011,2
    C,F--118503837(+) GCAGGC/TGGAGA 1 -- int12Minor allele frequency- T:0.07WA 120
    rs1118995091,2
    C,F--118503860(+) AAGACA/GGTGCC 1 -- int12Minor allele frequency- G:0.07CSA WA 120
    rs1511854961,2
    --118503912(+) CAAAAC/TAATAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPAG17 (118496288 - 118727848 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPAG17:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2608205CNV Deletion19546169
    esv2716696CNV Deletion23290073
    esv2716707CNV Deletion23290073
    esv34191CNV Loss18971310
    nsv528470CNV Loss19592680
    nsv872167CNV Loss21882294
    esv5742CNV Gain19470904

    Human Gene Mutation Database (HGMD): SPAG17
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPAG17
    DNA2.0 Custom Variant and Variant Library Synthesis for SPAG17

    (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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    6 diseases for SPAG17:    
    About MalaCards
    thyroid cancer    crohn's disease    breast and colorectal cancer    thyroiditis
    obesity    colorectal cancer


    SPAG17 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPAG17
    Human Genome Epidemiology (HuGE) Navigator: SPAG17 (6 documents)

    Export disorders for SPAG17 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 SPAG17 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with SPAG17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    2. Identification of 15 loci influencing height in a Korean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (J. Hum. Genet. 2010)
    3. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)1, 4 Lee J.J....Hirschhorn J. (Ann. Hum. Genet. 2010)
    4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (PLoS Genet. 2009)
    5. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (Nat. Genet. 2008)
    6. Strong association of chromosome 1p12 loci with thyroid cancer susceptibility. (PubMed id 18559567)1, 4 Baida A....VelA!zquez A. (amp 2008)
    7. Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16. (PubMed id 15827353)1, 2 Zhang Z.... Strauss J.F. III (Mol. Cell. Proteomics 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    10. A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. (PubMed id 23708190)1 Hu Z....Shen H. (Nat. Genet. 2013)

    (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: 200162 HGNC: 26620 AceView: PF6 Ensembl:ENSG00000155761 euGenes: HUgn200162
    ECgene: SPAG17 H-InvDB: SPAG17

    (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 SPAG17 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 SPAG17 gene:
    Search GeneIP for patents involving SPAG17

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SPAG17  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
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     Block miRNA regulation of human, mouse, rat SPAG17 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SPAG17
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPAG17 Predesigned siRNA for gene silencing in human, mouse, rat SPAG17
     QuantiFast Probe-based Assays in human, mouse, rat SPAG17 QuantiTect SYBR Green Assays in human, mouse, rat SPAG17
     Custom PCR Arrays for SPAG17 Search Chromatin IP Primers for SPAG17
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     Search Tocris compounds for SPAG17 (SPG17)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for SPAG17
     Gene Synthesis
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     Search ThermoFisher Antibodies for SPAG17
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPAG17
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPAG17
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