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TMEM17 Gene

protein-coding   GIFtS: 43
GCID: GC02M062727

Transmembrane Protein 17

  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)
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Aliases
Transmembrane Protein 171 2

External Ids:    HGNC: 266231   Entrez Gene: 2007282   Ensembl: ENSG000001868897   OMIM: 6149505   UniProtKB: Q86X193   

Export aliases for TMEM17 gene to outside databases

Previous GC identifers: GC02M062702 GC02M062639 GC02M062581 GC02M062465


(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 TMEM17 Gene:
TMEM17 (transmembrane protein 17) is a protein-coding gene. Diseases associated with TMEM17 include crohn's disease.

UniProtKB/Swiss-Prot: TMM17_HUMAN, Q86X19
Function: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of
primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and
plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (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_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM17 gene promoter:
         MEF-2A   FOXJ2 (long isoform)   FOXD3   Nkx2-5   aMEF-2   FOXJ2   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM17 promoter sequence
   Search Chromatin IP Primers for TMEM17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM17


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

Entrez Gene cytogenetic band: 2p15   Ensembl cytogenetic band:  2p15   HGNC cytogenetic band: 2p15

TMEM17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM17 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M062727:  view genomic region     (about GC identifiers)

Start:
62,727,356 bp from pter      End:
62,739,029 bp from pter
Size:
11,674 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: TMM17_HUMAN, Q86X19 (See protein sequence)
Recommended Name: Transmembrane protein 17  
Size: 198 amino acids; 23046 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)
Secondary accessions: Q53QP7 Q53R98

Explore the universe of human proteins at neXtProt for TMEM17: NX_Q86X19

Explore proteomics data for TMEM17 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn13, Asn23

  • See TMEM17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_938017.2  
    ENSEMBL proteins: 
     ENSP00000335094  

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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:
     IPR019184 Uncharacterised_TM-17

    Graphical View of Domain Structure for InterPro Entry Q86X19

    ProtoNet protein and cluster: Q86X19

    UniProtKB/Swiss-Prot: TMM17_HUMAN, Q86X19
    Similarity: Belongs to the TMEM17 family


    TMEM17 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: TMM17_HUMAN, Q86X19
    Function: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of
    primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and
    plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TMEM17 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TMEM17:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM17
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    hsa-mir-192-5p (MIRT026578)

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    7 qRT-PCR Assays for microRNAs that regulate TMEM17:
    hsa-miR-200c hsa-miR-429 hsa-miR-205* hsa-miR-200b hsa-miR-296-3p hsa-miR-3647-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidTMEM17 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
    TMM17_HUMAN, Q86X19: Cell projection, cilium membrane; Multi-pass membrane protein (By similarity).
    Note=Localizes to the transition zone of primary cilia (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0035869ciliary transition zone ISS--
    GO:0036038TCTN-B9D complex ISS--
    GO:0060170ciliary membrane ISS--

    TMEM17 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 TMEM17
    Interactions:

        Search GeneGlobe Interaction Network for TMEM17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for TMEM17 (ENSP000003350944) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CC2D2BENSP000003602414STRING: ENSP00000360241 STRING: ENSP00000343747
    AHI1ENSP000003567744STRING: ENSP00000356774
    CEP290ENSP000003080214STRING: ENSP00000308021
    MKS1ENSP000003768274STRING: ENSP00000376827
    TCTN1ENSP000003807794STRING: ENSP00000380779
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway ISS--
    GO:0042384cilium assembly ISS--

    TMEM17 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 TMEM17 (TMM17)



    (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 TMEM17 gene: 
    NM_198276.2  

    Unigene Cluster for TMEM17:

    Transmembrane protein 17
    Hs.308028  [show with all ESTs]
    Unigene Representative Sequence: AK091902
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335390(uc002sbt.2) ENST00000479763(uc002sbv.1) ENST00000494919(uc002sbu.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TMEM17 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate TMEM17:
    hsa-miR-200c hsa-miR-429 hsa-miR-205* hsa-miR-200b hsa-miR-296-3p hsa-miR-3647-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidTMEM17 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TMEM17
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM17
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): TMEM17 (NM_001101311)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM17
    Primer
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    OriGene qPCR primer pairs and template standards for TMEM17
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM17
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM17
      QuantiFast Probe-based Assays in human, mouse, rat TMEM17

    Additional mRNA sequence: 

    AK091902.1 AK124081.1 BC047439.1 

    5 DOTS entries:

    DT.40261238  DT.101980853  DT.100745267  DT.75100457  DT.99984913 

    Selected AceView cDNA sequences (see all 30):

    BX105045 AI821451 BQ269162 AI732286 BU949759 AI820820 CB104980 AK124081 
    AX747245 BU952614 AI820709 AK091902 AI922002 BQ268895 NM_198276 AA084725 
    R70171 BU951178 AI126611 BC047439 AW895489 BG255056 BI598556 CB112933 

    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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    TMEM17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM17 Expression
    About this image

    TMEM17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.308028
        Custom PCR Arrays for TMEM17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM17

    (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 TMEM17 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem171 , 5 transmembrane protein 171, 5 82.83(n)1
    79.8(a)1
      11 (14.17 cM)5
    1037651  NM_153596.31  NP_705824.11 
     225120885 
    chicken
    (Gallus gallus)
    Aves TMEM171 transmembrane protein 17 72.28(n)
    67.39(a)
      421284  NM_001276388.1  NP_001263317.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM176
    transmembrane protein 17
    60(a)
    1 ↔ 1
    AAWZ02037189(1217-11436)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmem171 transmembrane protein 17 59.73(n)
    56.65(a)
      548354  NM_001015683.1  NP_001015683.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.276162 Transcribed sequences 72.42(n)    57053329 


    ENSEMBL Gene Tree for TMEM17 (if available)
    TreeFam Gene Tree for TMEM17 (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 TMEM17 (see all 190)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1479394741,2
    C--62726883(+) ACTGTA/CCCTCA 1 -- ds50010--------
    rs728055861,2
    C--62726887(+) TCCCTC/TAGTAA 1 -- ds50013Minor allele frequency- T:0.12NA WA 240
    rs111259241,2
    C,F,A,H--62727036(+) CCTAAA/GATAGA 1 -- ds500128Minor allele frequency- G:0.23NS EA NA CSA WA 3129
    rs101980141,2
    C,F,H--62727129(+) GAGGCG/ACTCTG 1 -- ds50016Minor allele frequency- A:0.05NS EA WA 536
    rs75828821,2
    C,F,A,H--62727154(+) CCTCAC/TGTGAA 1 -- ds500120Minor allele frequency- T:0.20NA NS EA WA 2476
    rs746435511,2
    C--62727170(+) TGGGTA/GTGAAG 1 -- ds50013Minor allele frequency- G:0.06NA WA 240
    rs116783401,2
    C,F,A,H--62727363(+) TGCTGA/CTACCT 1 -- ut3114Minor allele frequency- C:0.09NS EA NA CSA WA 1152
    rs1888312371,2
    --62727430(+) AATATA/GGTTTT 1 -- ut310--------
    rs75834001,2
    C,F,H--62727445(+) AAGTTA/GTAATT 1 -- ut3111Minor allele frequency- G:0.20NA WA CSA EA 372
    rs582278311,2
    C--62727747(+) CTAAT-/TTTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TMEM17 (62727356 - 62739029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TMEM17:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2751CNV Loss18451855
    nsv7313OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM17
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM17

    (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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    OMIM gene information: 614950    OMIM disorders: --

    1 disease for TMEM17:    
    About MalaCards
    crohn's disease


    TMEM17 for disorders           About GeneDecksing


    Export disorders for TMEM17 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 TMEM17 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    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. (Genome Res. 2004)
    3. 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)
    4. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (PLoS Genet. 2012)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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: 200728 HGNC: 26623 AceView: TMEM17 Ensembl:ENSG00000186889 euGenes: HUgn200728
    ECgene: TMEM17 H-InvDB: TMEM17

    (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 TMEM17 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 TMEM17 gene:
    Search GeneIP for patents involving TMEM17

    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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