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MPL Gene

protein-coding   GIFtS: 69
GCID: GC01P043803

Myeloproliferative Leukemia Virus Oncogene

  See MPL-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
Myeloproliferative Leukemia Virus Oncogene1 2     THCYT22 5
TPOR2 3 5     C-MPL2
Myeloproliferative Leukemia Protein2 3     CD1102
Proto-Oncogene C-Mpl2 3     Thrombopoietin Receptor2
TPO-R2 3     CD110 Antigen3
MPLV2 5     

External Ids:    HGNC: 72171   Entrez Gene: 43522   Ensembl: ENSG000001174007   OMIM: 1595305   UniProtKB: P402383   

Export aliases for MPL gene to outside databases

Previous GC identifers: GC01P043746 GC01P042803 GC01P043233 GC01P043216 GC01P043472 GC01P043576 GC01P041923


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MPL Gene:
In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of
immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl,
was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the
hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte
colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the
major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is
a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular
cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important
role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is
dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the
adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. (provided by RefSeq, Jul 2008)

GeneCards Summary for MPL Gene:
MPL (myeloproliferative leukemia virus oncogene) is a protein-coding gene. Diseases associated with MPL include thrombocythemia 2, and congenital amegakaryocytic thrombocytopenia. GO annotations related to this gene include cytokine receptor activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238
Function: Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune
responses

Gene Wiki entry for MPL (Thrombopoietin receptor) Gene


(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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPL gene promoter:
         AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPL promoter sequence
   Search Chromatin IP Primers for MPL

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


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P043803:  view genomic region     (about GC identifiers)

Start:
43,803,475 bp from pter      End:
43,820,135 bp from pter
Size:
16,661 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: TPOR_HUMAN, P40238 (See protein sequence)
Recommended Name: Thrombopoietin receptor precursor  
Size: 635 amino acids; 71245 Da
Subunit: Interacts with ATXN2L
Caution: It is uncertain whether Met-1 or Met-8 is the initiator
Secondary accessions: Q5JUZ0
Alternative splicing: 2 isoforms:  P40238-1   P40238-2   

Explore the universe of human proteins at neXtProt for MPL: NX_P40238

Explore proteomics data for MPL at MOPED

Post-translational modifications: 

  • Ubiquitination at Lys-553 and Lys-573 targets MPL for degradation by both the lysosomal and proteasomal pathways.
    The E3 ubiquitin-protein ligase CBL significantly contributes to this ubiquitination1
  • Ubiquitination2 at Lys553, Lys573
  • Glycosylation2 at Asn117, Asn178, Asn298, Asn358
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_005364.1  
    ENSEMBL proteins: 
     ENSP00000361548   ENSP00000414004  
    Reactome Protein details: P40238

    MPL Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for MPL (Thrombopoietin R/Tpo R)
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MPL
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    Novus Biologicals MPL Proteins
    Novus Biologicals MPL Lysate
    Sino Biological Recombinant Protein for MPL
    Sino Biological Cell Lysate for MPL
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MPL

     
    Search eBioscience for Proteins for MPL 

    MPL Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MPL
    R&D Systems Antibodies for MPL (Thrombopoietin R/Tpo R)
    Cell Signaling Technology (CST) Antibodies for MPL 
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    Novus Biologicals MPL Antibodies
    Abcam antibodies for MPL
    Cloud-Clone Corp. Antibodies for MPL
    ThermoFisher Antibody for MPL
    LSBio Antibodies in human, mouse, rat for MPL

    MPL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MPL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MPL
    Cloud-Clone Corp. CLIAs for MPL
    Search eBioscience for ELISAs for MPL 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Thrombopoietin receptor
    Prolactin receptor family

    4 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR015152 Growth/epo_recpt_lig-bind
     IPR003528 Long_hematopoietin_rcpt_CS

    Graphical View of Domain Structure for InterPro Entry P40238

    ProtoNet protein and cluster: P40238

    UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 1 subfamily
    Similarity: Contains 2 fibronectin type-III domains


    Find genes that share domains with MPL           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPOR_HUMAN, P40238
    Function: Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune
    responses

         Genatlas biochemistry entry for MPL:
    myeloproliferative leukemia virus oncogene homolog,hematopoietic growth factor receptor superfamily

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS8020956
    GO:0004896cytokine receptor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with MPL           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MPL:
     Decreased viability  Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mpl):
     cellular  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging 

    Find genes that share phenotypes with MPL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MPL: Mpltm1Mwm Mpltm1Fjs Mpltm1Wsa

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MPL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPL

    miRNA
    Products:
        
    miRTarBase miRNAs that target MPL:
    hsa-let-7f-5p (MIRT006407), hsa-let-7a-5p (MIRT006405), hsa-let-7e-5p (MIRT006404), hsa-let-7c-5p (MIRT006403), hsa-let-7d-5p (MIRT006406), hsa-mir-151a-5p (MIRT006409), hsa-mir-708-3p (MIRT006410), hsa-mir-98-5p (MIRT006408), hsa-mir-28-5p (MIRT006402)

    Block miRNA regulation of human, mouse, rat MPL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPL (see all 16):
    hsa-miR-30c hsa-miR-767-5p hsa-miR-501-3p hsa-miR-30d hsa-miR-502-3p hsa-miR-30a hsa-miR-28-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidMPL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MPL
    Predesigned siRNA for gene silencing in human, mouse, rat MPL

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MPL (NM_005373)
    Sino Biological Human cDNA Clone for MPL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPL

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPL


    (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
    TPOR_HUMAN, P40238: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3
    cytosol2
    cytoskeleton1
    lysosome1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8020956
    GO:0016020membrane ----

    Find genes that share ontologies with MPL           About GenesLikeMe


    (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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    SuperPaths for MPL About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Jak/Stat Pathway
    Development Thrombopoetin signaling via JAK STAT pathway0.32
    Jak/Stat Pathway0.32
    2Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    3Integrin alphaIIb beta3 signaling
    Platelet Aggregation (Plug Formation)0.73
    4TGF-Beta Pathway
    JAK-STAT Pathway0.57
    5ErbB4 Pathway
    Thrombopoietin Pathway0.51


    Find genes that share SuperPaths with MPL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MPL
        JAK-STAT Pathway
    Thrombopoietin Pathway

    1 Cell Signaling Technology (CST) Pathway for MPL
        Jak/Stat Pathway

    2 GeneGo (Thomson Reuters) Pathways for MPL
        Development Thrombopoietin-regulated cell processes
    Development Thrombopoetin signaling via JAK-STAT pathway


    1 Reactome Pathway for MPL
        Platelet Aggregation (Plug Formation)


    2 Kegg Pathways  (Kegg details for MPL):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MPL: 
              Interferons & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MPL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for MPL (P402383 ENSP000003615484) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRS2Q9Y4H23, ENSP000003650164I2D: score=1 STRING: ENSP00000365016
    PTPN11Q061243, ENSP000003409444I2D: score=1 STRING: ENSP00000340944
    SHC1P293533, ENSP000004013034I2D: score=1 STRING: ENSP00000401303
    THPOP402253, ENSP000002046154I2D: score=1 STRING: ENSP00000204615
    JAK2O606743, ENSP000003710674I2D: score=1 STRING: ENSP00000371067
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway TAS8020956
    GO:0007596blood coagulation TAS--
    GO:0008283cell proliferation TAS8020956
    GO:0030168platelet activation TAS--
    GO:0032642regulation of chemokine production IEA--

    Find genes that share ontologies with MPL           About GenesLikeMe



    (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 MPL (TPOR)

    2 DrugBank Compounds for MPL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Eltrombopag3'-{(2Z)-2-[1-(3,4-dimethylphenyl)-3-methyl-5-oxo-1,5-dihydro-4H-pyrazol-4-ylidene]hydrazino}-2'-hydroxy-3-biphenylcarboxylic acid (see all 3)496775-61-2targetagonist19642221
    Romiplostim -- 267639-76-9targetagonist23250851

    1 IUPHAR Ligand for MPL (Thrombopoietin receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    thrombopoietin
    AgonistAgonist--

    Selected Novoseek inferred chemical compound relationships for MPL gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    megapoietin 85.8 2 9154314 (1), 11012231 (1)
    anagrelide 62 2 16413395 (1), 16810615 (1)
    reticulin 58.5 2 19671919 (1), 16834459 (1)
    tyrosine 52.6 39 10224114 (3), 8555464 (2), 8695851 (2), 9600081 (2) (see all 26)
    gp 130 27.4 6 9685167 (2), 10068651 (2), 9389693 (1)
    adp 27.4 1 15863506 (1)
    polyethylene glycol 19.1 3 11830463 (1), 8948025 (1), 12361196 (1)
    aspirin 15.8 1 8639835 (1)
    thromboxane 11.5 2 8639835 (1)
    phosphatidylinositol 7.97 1 11418622 (1)



    Find genes that share compounds with MPL           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MPL gene: 
    NM_005373.2  

    Unigene Cluster for MPL:

    Myeloproliferative leukemia virus oncogene
    Hs.82906  [show with all ESTs]
    Unigene Representative Sequence: NM_005373
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372470(uc001ciw.3 uc009vwr.3) ENST00000413998(uc001civ.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MPL (see all 16):
    hsa-miR-30c hsa-miR-767-5p hsa-miR-501-3p hsa-miR-30d hsa-miR-502-3p hsa-miR-30a hsa-miR-28-5p hsa-miR-1252
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    GenScript: all cDNA clones in your preferred vector: MPL (NM_005373)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPL
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPL
      QuantiTect SYBR Green Assays in human, mouse, rat MPL
      QuantiFast Probe-based Assays in human, mouse, rat MPL

    Additional mRNA sequence: 

    DQ234353.1 M90102.1 M90103.1 

    2 DOTS entries:

    DT.95203663  DT.407014 

    4 AceView cDNA sequences:

    M90102 NM_005373 BV196940 M90103 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MPL    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
    SP1:                                                                    -               
    SP2:        -                                                           -               
    SP3:                                                                                    


    ECgene alternative splicing isoforms for MPL

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


    MPL 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
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             Megakaryocytes Hematopoietic Bone Marrow
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Liver Bud
     
     NULL (Uncategorized)
             Blast colony cells
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    MPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.82906

    UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238
    Tissue specificity: Expressed at a low level in a large number of cells of hematopoietic origin. Isoform 1 and
    isoform 2 are always found to be coexpressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MPL: 
              Interferons & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MPL
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    QuantiFast Probe-based Assays in human, mouse, rat MPL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPL

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for MPL gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpl1 , 5 myeloproliferative leukemia virus oncogene1, 5 85.15(n)1
    81.52(a)1
      4 (54.61 cM)5
    174801  NM_001122949.21  NP_001116421.11 
     1184424155 
    chicken
    (Gallus gallus)
    Aves MPL1 myeloproliferative leukemia virus oncogene 52.94(n)
    42.1(a)
      414804  NM_001001782.1  NP_001001782.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPL6
    myeloproliferative leukemia virus oncogene
    30(a)
    1 ↔ 1
    4(107230248-107252996)
    zebrafish
    (Danio rerio)
    Actinopterygii mpl1 myeloproliferative leukemia virus oncogene 41.17(n)
    28.35(a)
      445381  NM_001003858.1  NP_001003858.1 


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

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

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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 MPL (see all 434)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675604
    Myelofibrosis with myeloid metaplasia (MMM)4--see VAR_0675602 W K mis40--------
    rs289289071,2
    C,Fpathogenic143882885(+) AGTGCG/CTCTCT 2 /P /R mis1 ese32Minor allele frequency- C:0.00NA EU 5875
    rs289289081,2
    Cpathogenic143884347(+) CCCTCA/CCTGTG 2 T P mis10--------
    rs172926501,2,,4
    C,F,Hother143882387(+) CTGAAG/TTGTTT 2 K N mis1 ese315Minor allele frequency- T:0.02NS EA NA WA EU 7357
    rs679704771,2
    C--43801964(+) TGAAT-/T/T   
       T
    /TTT
    TTTTT
    2 -- us2k1 cds10--------
    rs1380458421,2
    --43880200(+) CTAAAC/GACAAA 1 -- us2k10--------
    rs1918590431,2
    --43880252(+) ACTAAC/GACTTC 1 -- us2k10--------
    rs1425231491,2
    --43880285(+) ATCTCC/TTCCTT 1 -- us2k10--------
    rs1459712651,2
    --43880369(+) GTTGAA/TGTGGC 1 -- us2k10--------
    rs1846234931,2
    --43880405(+) CCTGTC/TCCCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MPL (43803475 - 43820135 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MPL: --
    Human Gene Mutation Database (HGMD): MPL
    Locus Specific Mutation Databases (LSDB): MPL

    Selected Site Specific Mutation Identification with PCR Assays for MPL (see all 7):
    Cosmic IdAA Change
    27290p.A519T
    19193p.W515K
    86964p.V501A
    27289p.W515A
    27286p.S505N
    3 Site Specific Cancer Mutation PCR Panels containing MPL:
    Hematopoietic Neoplasms
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    SeqTarget long-range PCR primers for resequencing MPL
    DNA2.0 Custom Variant and Variant Library Synthesis for MPL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 159530   
    OMIM disorders: 604498  601977  254450  
    UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238
  • Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]: Disease characterized by isolated
    thrombocytopenia and megakaryocytopenia with no physical anomalies. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Thrombocythemia 2 (THCYT2) [MIM:601977]: A myeloproliferative disorder characterized by excessive
    platelet production, resulting in increased numbers of circulating platelets. It can be associated with
    spontaneous hemorrhages and thrombotic episodes. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]: A chronic myeloproliferative disorder
    characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia,
    leukoerythroblastosis and hepatosplenomegaly. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for MPL (see all 21):    
    About MalaCards
    thrombocythemia 2    congenital amegakaryocytic thrombocytopenia    hereditary aplastic anemia    myelofibrosis with myeloid metaplasia, somatic
    myelofibrosis    chronic myeloproliferative disease    thrombocytosis    polycythemia vera
    splenomegaly    pancytopenia    essential thrombocythemia    myelofibrosis, somatic
    autoimmune thrombocytopenic purpura    thrombocythemia 1    polycythemia    leukemia
    hepatoblastoma    myelodysplastic syndromes    purpura    myeloproliferative disorder

    8 diseases from the University of Copenhagen DISEASES database for MPL:
    Thrombocytopenia     Thrombocytosis     Myelofibrosis     Polycythemia
    Autoimmune thrombocytopenic purpura     Chronic myeloproliferative disease     Leukemia     Anemia

    Find genes that share disorders with MPL           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MPL gene (see all 53)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amegakaryocytic thrombocytopenia, congenital 96.3 28 19302922 (3), 16413394 (1), 19252138 (1), 10077649 (1) (see all 19)
    thrombocythemia essential 87.1 19 12010817 (2), 15390356 (2), 19483125 (2), 20113333 (2) (see all 13)
    thrombocytosis 87 51 19036112 (4), 10520034 (2), 15269348 (2), 17920755 (2) (see all 30)
    polycythemia vera 85.3 21 10887148 (2), 9475764 (2), 17956691 (2), 10515857 (2) (see all 11)
    primary myelofibrosis 85.3 4 20113333 (2), 8589367 (1), 19194467 (1)
    myeloproliferative disorders 83.7 32 15095485 (3), 8589367 (2), 17693582 (2), 15899890 (1) (see all 19)
    megakaryocytic hypoplasia 82.2 5 12209520 (2), 12794833 (1)
    thrombocytopenia 81.1 81 10049050 (2), 12209520 (2), 12794833 (2), 9209831 (2) (see all 49)
    idiopathic myelofibrosis 77 4 9864154 (1), 17920755 (1), 15095485 (1), 19194467 (1)
    myelofibrosis 76.1 6 11012187 (1), 9592015 (1), 17920755 (1), 17408465 (1) (see all 6)

    Genetic Association Database (GAD): MPL
    Human Genome Epidemiology (HuGE) Navigator: MPL (28 documents)
    Tumor Gene Database (TGDB): MPL

    Export disorders for MPL 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 MPL gene, integrated from 10 sources (see all 481):
    (articles sorted by number of sources associating them with MPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. (PubMed id 15269348)1, 2, 4, 9 Moliterno A.R.... Spivak J.L. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    2. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. (PubMed id 16868251)1, 2, 4 Pardanani A.D.... Tefferi A. (Blood 2006)
    3. Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily. (PubMed id 1608974)1, 2, 3 Vigon I.... Souyri M. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    4. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. (PubMed id 19483125)1, 2, 9 Ding J.... Ueda R. (Blood 2009)
    5. Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count. (PubMed id 15307100)1, 4, 9 Zeng S.M....Yankowitz J. (Am. J. Hematol. 2004)
    6. Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets. (PubMed id 20113333)1, 4, 9 Glembotsky A.C....Heller P.G. (Eur. J. Haematol. 2010)
    7. Structure and transcription of the human c-mpl gene (MPL). (PubMed id 8020956)1, 2, 9 Mignotte V.... Chretien S. (Genomics 1994)
    8. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. (PubMed id 16834459)1, 2, 9 Pikman Y.... Levine R.L. (PLoS Med. 2006)
    9. JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. (PubMed id 19643476)1, 4, 9 Siemiatkowska A....Limon J. (Leuk. Res. 2010)
    10. MPLW515L mutation in acute megakaryoblastic leukaemia. (PubMed id 19194467)1, 4, 9 Hussein K....Kreipe H. (Leukemia 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4352 HGNC: 7217 AceView: MPL Ensembl:ENSG00000117400 euGenes: HUgn4352
    ECgene: MPL Kegg: 4352 H-InvDB: MPL

    (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 MPL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MPL Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MPL[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPL gene:
    Search GeneIP for patents involving MPL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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