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

SNX8 Gene

protein-coding   GIFtS: 52
GCID: GC07M002261

Sorting Nexin 8

  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)
About This Section

Aliases
Sorting Nexin 81 2
Mvp12
Sorting Nexin-82

External Ids:    HGNC: 149721   Entrez Gene: 298862   Ensembl: ENSG000001062667   OMIM: 6149055   UniProtKB: Q9Y5X23   

Export aliases for SNX8 gene to outside databases

Previous GC identifers: GC07M001939 GC07M002039 GC07M002040 GC07M002068


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

GeneCards Summary for SNX8 Gene: 
SNX8 (sorting nexin 8) is a protein-coding gene. Diseases associated with SNX8 include tetralogy of fallot. GO annotations related to this gene include protein binding and phosphatidylinositol binding.

UniProtKB/Swiss-Prot: SNX8_HUMAN, Q9Y5X2
Function: May be involved in several stages of intracellular trafficking. May play a role in intracellular protein
transport from early endosomes to the trans-Golgi network




(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_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNX8 gene promoter:
         STAT1   STAT1beta   STAT1alpha   Egr-4   CREB   Pax-3   deltaCREB   Meis-1a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): SNX8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNX8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNX8


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

Entrez Gene cytogenetic band: 7p22.3   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

SNX8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX8 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M002261:  view genomic region     (about GC identifiers)

Start:
2,291,405 bp from pter      End:
2,393,953 bp from pter
Size:
102,549 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 2,340,080-2,402,509     

(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: SNX8_HUMAN, Q9Y5X2 (See protein sequence)
Recommended Name: Sorting nexin-8  
Size: 465 amino acids; 52569 Da
Subcellular location: Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes
with retromer components
Secondary accessions: A4D207 Q96I67

Explore the universe of human proteins at neXtProt for SNX8: NX_Q9Y5X2

Explore proteomics data for SNX8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5X2

  • SNX8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNX8 Protein Expression
    REFSEQ proteins: NP_037453.1  
    ENSEMBL proteins: 
     ENSP00000222990   ENSP00000392437   ENSP00000406954   ENSP00000406212   ENSP00000403608  
     ENSP00000399127  

    Human Recombinant Protein Products for SNX8: 
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    Novus Biologicals SNX8 Proteins
    Novus Biologicals SNX8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SNX8 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030904colocalizes with retromer complex IDA19782049
    GO:0031901early endosome membrane IDA19782049

    SNX8 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
    HGNC Gene Families: 
    SNX: Sorting nexins

    1 InterPro protein domain:
     IPR001683 Phox

    Graphical View of Domain Structure for InterPro Entry Q9Y5X2

    ProtoNet protein and cluster: Q9Y5X2

    1 Blocks protein domain: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: SNX8_HUMAN, Q9Y5X2
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 PX (phox homology) domain


    SNX8 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: SNX8_HUMAN, Q9Y5X2
    Function: May be involved in several stages of intracellular trafficking. May play a role in intracellular protein
    transport from early endosomes to the trans-Golgi network

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0035091phosphatidylinositol binding IMP19782049
         
    SNX8 for ontologies           About GeneDecksing


    Animal Models:
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNX8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for SNX8 (Q9Y5X21, 2, 3 ENSP000002229904) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1752557,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IMP19782049
    GO:0007154cell communication IEA--
    GO:0034498early endosome to Golgi transport IMP19782049

    SNX8 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 SNX8

    Search CenterWatch for drugs/clinical trials and news about SNX8

    (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 SNX8 gene: 
    NM_013321.2  

    Unigene Cluster for SNX8:

    Sorting nexin 8
    Hs.584900  [show with all ESTs]
    Unigene Representative Sequence: NM_013321
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222990(uc003slw.3) ENST00000480807 ENST00000479689 ENST00000435060
    ENST00000457286 ENST00000435336 ENST00000494722 ENST00000447136 ENST00000419693

    miRNA
    Products:
         
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate SNX8 (see all 30):
    hsa-miR-30c hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-302e hsa-miR-583
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNX8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNX8
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                         Customized lentivirus expression plasmids for stable overexpression of SNX8 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNX8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNX8

    Additional mRNA sequence: 

    AF121858.1 AK074544.1 AK315670.1 AL713633.1 BC007785.2 BC014395.1 BC021565.1 

    9 DOTS entries:

    DT.444568  DT.100779975  DT.40200625  DT.100779974  DT.121124385  DT.91797117  DT.95072563  DT.95360001 
    DT.75126385 

    24/208 AceView cDNA sequences (see all 208):

    BG761296 BG425549 BQ057267 BU521269 BE464306 C00868 CB124021 CB132058 
    BU527816 BI762303 CF242839 BM846608 BQ706931 BQ897850 AW249686 BM811303 
    AI122675 BQ222866 BI826664 BQ053737 AI126793 CB140898 BX104001 BQ652527 

    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

    SNX8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGGGCGT
    SNX8 Expression
    About this image


    See SNX8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNX8

    SOURCE GeneReport for Unigene cluster: Hs.584900
        SABiosciences Custom PCR Arrays for SNX8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX8

    (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 and fungi.

    Orthologs for SNX8 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx81 , 5 sorting nexin 81, 5 85.62(n)1
    89.54(a)1
      5 (78.95 cM)5
    2318341  NM_172277.21  NP_758481.11 
     1403403035 
    chicken
    (Gallus gallus)
    Aves SNX81 sorting nexin 8 77.52(n)
    86.05(a)
      416468  XM_414774.3  XP_414774.3 
    lizard
    (Anolis carolinensis)
    Reptilia SNX86
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343340.1(12381-26345)
    zebrafish
    (Danio rerio)
    Actinopterygii CF924902.12   -- 72.99(n)   387289  CF924902.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0120121 AGAP012012-PA 45.04(n)
    32.44(a)
      1280658  XM_320519.4  XP_320519.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MVP1(YMR004W)4
    MVP11
    Protein required for sorting proteins to the vacuole; more4
    Mvp1p1
    37.49(n)1
    26.14(a)1
      13(274017-275552)4
    8550161, 4  NP_013717.11, 4 


    ENSEMBL Gene Tree for SNX8 (if available)
    TreeFam Gene Tree for SNX8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/1708 SNPs in SNX8 are shown (see all 1708)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362594
    A colorectal cancer sample4--see VAR_0362592 A G mis40--------
    rs1929156011,2
    --2291336(+) GCTCTA/GGGCTA 1 -- int10--------
    rs22700521,2
    C,F,A,H--2291399(+) TACACG/ATTTAA 1 -- int121Minor allele frequency- A:0.39EA NS NA CSA WA 3513
    rs1385659461,2
    --2291454(+) AGGTCA/CTGTGT 1 -- ut310--------
    rs765062041,2
    --2291558(+) GCCTCA/CGATGC 1 -- ut310--------
    rs1142761171,2
    C,F--2291678(+) GCACGG/ATGACC 1 -- ut311Minor allele frequency- A:0.03WA 118
    rs785185741,2
    F--2291701(+) GACACG/AGACCA 1 -- ut311Minor allele frequency- A:0.03WA 118
    rs715503361,2
    C,F--2291779(+) CACAACCCCCCTC
    CCACGG
    /-
    CCCCG
    2 -- ut312Minor allele frequency- -:0.50NA CSA 4
    rs1489285501,2
    C--2291779(+) CACAA-/CCCCCC
    TCCCACGG
    GCCCC
    1 -- ut310--------
    rs2016573061,2
    C--2291792(-) CGGGGC/TCGTGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SNX8 (2291405 - 2393953 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SNX8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1000840CNV Deletion20482838
    nsv887278CNV Loss21882294
    nsv887277CNV Loss21882294
    nsv830886CNV Loss17160897
    nsv887280CNV Loss21882294
    nsv887274CNV Loss21882294
    dgv7110n71CNV Loss21882294
    nsv887279CNV Loss21882294
    nsv823980CNV Gain20364138


    Human Gene Mutation Database (HGMD): SNX8
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SNX8
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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: 614905    OMIM disorders: --

    2 diseases for SNX8:    About MalaCards
    tetralogy of fallot    

    1 disease from the University of Copenhagen DISEASES database for SNX8:
    Tetralogy of Fallot

    SNX8 for disorders           About GeneDecksing


    Export disorders for SNX8 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 SNX8 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SNX8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sorting nexin 8 regulates endosome-to-Golgi transport . (PubMed id 19782049)1, 2, 9 Dyve A.B....Sandvig K. (2009)
    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. (2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    4. A large family of endosome-localized proteins related to sorting nexin 1. (PubMed id 11485546)1, 2 Teasdale R.D.... Gleeson P.A. (2001)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. SNX-BAR-mediated endosome tubulation is co-ordinated w ith endosome maturation. (PubMed id 21973056)1 van Weering J.R....Cullen P.J. (2012)
    7. 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. (2012)
    8. Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared wit h bipolar disorder. (PubMed id 22688191)1 Bergen S.E....Sullivan P.F. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29886 HGNC: 14972 AceView: SNX8 Ensembl:ENSG00000106266 euGenes: HUgn29886
    ECgene: SNX8 H-InvDB: SNX8

    (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 SNX8 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 SNX8 gene:
    Search GeneIP for patents involving SNX8

    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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