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THPO Gene

protein-coding   GIFtS: 65
GCID: GC03M184089

Thrombopoietin


(Previous symbol: MGDF)
Microbiology & Infectious Diseases Congress
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(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
thrombopoietin1 2     prepro-thrombopoietin1 2
MGDF1 2 3 5     ML2 3
C-Mpl Ligand1 2 3     MPLLG2 5
Megakaryocyte Colony-Stimulating Factor1 2 3     THCYT12 5
Megakaryocyte Growth And Development Factor1 2 3     TPO2 5
Myeloproliferative Leukemia Virus Oncogene Ligand1 2 3     Thrombopoietin Nirs Variant 11
Megakaryocyte Stimulating Factor1 2     MKCSF2
MPL Ligand1 2     

External Ids:    HGNC: 117951   Entrez Gene: 70662   Ensembl: ENSG000000905347   OMIM: 6000445   UniProtKB: P402253   

Export aliases for THPO gene to outside databases

Previous GC identifers: GC03P180507 GC03M185083 GC03M185491 GC03M185410 GC03M185572 GC03M181496


(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 THPO Gene:
Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional
protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and
maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of
myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1.
Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5'
UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified,
and these upstream AUGs inhibit translation of the main ORF at different extent. (provided by RefSeq, Feb 2014)

GeneCards Summary for THPO Gene:
THPO (thrombopoietin) is a protein-coding gene. Diseases associated with THPO include essential thrombocythemia, and thrombocythemia 1. GO annotations related to this gene include hormone activity and cytokine activity.

UniProtKB/Swiss-Prot: TPO_HUMAN, P40225
Function: Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their
committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major
physiological regulator of circulating platelets

Gene Wiki entry for THPO (Thrombopoietin) 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:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the THPO gene promoter:
         AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): THPO promoter sequence
   Search Chromatin IP Primers for THPO

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


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

Entrez Gene cytogenetic band: 3q27   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M184089:  view genomic region     (about GC identifiers)

Start:
184,089,723 bp from pter      End:
184,095,932 bp from pter
Size:
6,210 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TPO_HUMAN, P40225 (See protein sequence)
Recommended Name: Thrombopoietin precursor  
Size: 353 amino acids; 37823 Da
2 PDB 3D structures from and Proteopedia for THPO:
1V7M (3D)        1V7N (3D)    
Secondary accessions: A1L3Y0 B7ZLR8 B9EGA8 Q13020 Q15790 Q15791 Q15792
Alternative splicing: 3 isoforms:  P40225-1   P40225-2   P40225-3   

Explore the universe of human proteins at neXtProt for THPO: NX_P40225

Explore proteomics data for THPO at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser22, Thr58, Thr131, Thr179, Thr180, Ser184, Asn197, Asn206, Thr213, Asn234,
                                 Asn255, Ser265, Asn340, Asn348

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

    REFSEQ proteins (10 alternative transcripts): 
    NP_000451.1  NP_001171068.1  NP_001171069.1  NP_001276926.1  NP_001276927.1  NP_001276932.1  NP_001276951.1  NP_001276955.1  
    NP_001276956.1  NP_001276957.1  

    ENSEMBL proteins: 
     ENSP00000204615   ENSP00000410763   ENSP00000411704  
    Reactome Protein details: P40225

    THPO Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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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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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    5 InterPro protein domains:
     IPR009079 4_helix_cytokine-like_core
     IPR012351 4_helix_cytokine_core
     IPR019767 EPO/TPO_CS
     IPR001323 EPO_TPO
     IPR003978 Thrombopoeitin

    Graphical View of Domain Structure for InterPro Entry P40225

    ProtoNet protein and cluster: P40225

    1 Blocks protein domain: IPB003978 Thrombopoietin signature

    UniProtKB/Swiss-Prot: TPO_HUMAN, P40225
    Domain: Two-domain structure with an erythropoietin-like N-terminal and a Ser/Pro/Thr-rich C-terminal
    Similarity: Belongs to the EPO/TPO family


    THPO 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: TPO_HUMAN, P40225
    Function: Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their
    committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major
    physiological regulator of circulating platelets

         Genatlas biochemistry entry for THPO:
    thrombopoietin,hematopoietic growth factor (MPL ligand),with two alternatively spliced forms expressed in fetal
    liver and spleen

         Summary: 
    During embryonic development, THPO as signaling molecule affects the following cells:
    Blood: Megakaryocytes (Hematopoietic Bone Marrow)

    THPO as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
                fully expand
    Blood: ADAtransduced hematopoietic stem cells , Megakaryocytes-like cells      fully expand to see all 6 cells
    Primitive Streak: Embryoid bodies, Embryoid bodies

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005179hormone activity IEA--
    GO:0008083growth factor activity TAS8202159
         
    THPO for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for THPO:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Thpo):
     hematopoietic system  immune system 

    THPO for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Thpotm1Mwm for THPO

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

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

    miRNA
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    miRTarBase miRNAs that target THPO:
    hsa-mir-124-3p (MIRT022813)

    Block miRNA regulation of human, mouse, rat THPO using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate THPO:
    hsa-miR-22
    SwitchGear 3'UTR luciferase reporter plasmidTHPO 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat THPO

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    GenScript: all cDNA clones in your preferred vector (see all 3): THPO (NM_000460)
    Sino Biological Human cDNA Clone for THPO
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for THPO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THPO

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for THPO 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THPO


    (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
    TPO_HUMAN, P40225: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--

    THPO 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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    SuperPaths for THPO About   (see all 17)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for THPO (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

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


    1 Reactome Pathway for THPO
        Platelet Aggregation (Plug Formation)


    1 Kegg Pathway  (Kegg details for THPO):
        Hematopoietic cell lineage


    THPO for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including THPO: 
              Growth Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Cytokines & Chemokines in human mouse rat
              Common Cytokines in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for THPO

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

    Selected Interacting proteins for THPO (P402253 ENSP000002046154) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPLP402383, ENSP000003615484I2D: score=1 STRING: ENSP00000361548
    SIRPB1ENSP000002794774STRING: ENSP00000279477
    APH1AENSP000003581054STRING: ENSP00000358105
    EP300ENSP000002632534STRING: ENSP00000263253
    NUMBLENSP000002528914STRING: ENSP00000252891
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0007275multicellular organismal development TAS8202159
    GO:0007596blood coagulation TAS--
    GO:0008283cell proliferation IEA--
    GO:0030099myeloid cell differentiation IEA--

    THPO 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 THPO (TPO)

    Selected Novoseek inferred chemical compound relationships for THPO gene (see all 97)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thpo 85 53 9425899 (4), 18433726 (4), 16251900 (3), 10492640 (2) (see all 13)
    megapoietin 77.1 7 9154314 (1), 11012231 (1), 8881104 (1)
    methylcellulose 66.4 8 10866098 (1), 9606619 (1), 9029014 (1), 11552999 (1) (see all 5)
    anagrelide 64.2 13 18414650 (4), 16413395 (2), 14767209 (1), 9154321 (1) (see all 6)
    pixy321 56.7 3 8692093 (1), 11551032 (1)
    nabu 56.7 4 15903240 (1), 18164778 (1), 16169764 (1), 17892962 (1)
    tyrosine 48.5 154 9108397 (6), 8695851 (6), 8843545 (5), 7589510 (4) (see all 69)
    filgrastim 45.9 5 10785263 (1), 18829110 (1), 18031136 (1)
    pyronin y 45.1 1 12461294 (1)
    gp 130 41.8 7 11756162 (2), 9685167 (1), 9389693 (1), 10194431 (1)



    THPO for compounds           About GeneDecksing



    (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,
    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 THPO gene (12 alternative transcripts): 
    NM_000460.3  NM_001177597.2  NM_001177598.2  NM_001289997.1  NM_001289998.1  NM_001290003.1  NM_001290022.1  NM_001290026.1  
    NM_001290027.1  NM_001290028.1  NM_199228.1  NM_199356.1  

    Unigene Cluster for THPO:

    Thrombopoietin
    Hs.1166  [show with all ESTs]
    Unigene Representative Sequence: NM_000460
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000204615(uc003fom.2 uc003fol.1 uc021xii.1 uc003fon.3 uc011brq.2 uc003fot.1)
    ENST00000445696(uc011bro.2 uc003fop.3 uc011brp.2 uc003fou.1)
    ENST00000421442(uc003for.1 uc003fos.1) ENST00000477594
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    1 qRT-PCR Assays for microRNA that regulate THPO:
    hsa-miR-22
    SwitchGear 3'UTR luciferase reporter plasmidTHPO 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): THPO (NM_000460)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THPO
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat THPO

    Additional mRNA sequence: 

    AB014681.1 AB102890.1 AB102892.1 AB102894.1 AK311002.1 BC130322.1 BC136338.1 BC143982.1 
    L33410.1 L36052.1 U11025.1 U42977.1 U59493.1 U59494.1 U59495.1 

    3 DOTS entries:

    DT.95158227  DT.95158226  DT.120890330 

    19 AceView cDNA sequences:

    NM_000460 AA480029 NM_199228 AB014683 BX108191 AA479058 AB014682 L36052 
    AB014681 NM_199356 L33410 BQ003135 C21276 U11025 U59495 U59494 
    U59493 D32047 U42977 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for THPO    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d
    SP1:                          -                                       
    SP2:                          -     -                                 
    SP3:                          -                                       
    SP4:                                                                  


    ECgene alternative splicing isoforms for THPO

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


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

    THPO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1166
        Pathway & Disease-focused RT2 Profiler PCR Arrays including THPO: 
              Growth Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Cytokines & Chemokines in human mouse rat
              Common Cytokines in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THPO

    (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 THPO gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thpo1 , 5 thrombopoietin1, 5 80.59(n)1
    71.31(a)1
      16 (12.51 cM)5
    218321  NM_009379.31  NP_033405.11 
     207251585 
    chicken
    (Gallus gallus)
    Aves TPO6
    Gallus gallus thrombopoietin (THPO), mRNA.
    31(a)
    1 ↔ 1
    9(15419502-15421617)
    lizard
    (Anolis carolinensis)
    Reptilia THPO6
    thrombopoietin
    29(a)
    1 ↔ 1
    GL343504.1(331686-335196)


    ENSEMBL Gene Tree for THPO (if available)
    TreeFam Gene Tree for THPO (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 THPO (see all 186)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs19201281,2
    C,A--181504223(-) GGCTCT/GGGGCC 3 -- us2k13Minor allele frequency- G:0.32NA EA 242
    rs1438110871,2
    C--181504459(+) GGGGCA/GGCACA 3 -- us2k10--------
    rs1161386891,2
    C,F--184089406(+) TGGGAA/CATGAG 3 -- ds50011Minor allele frequency- C:0.02WA 118
    rs1466223751,2
    --184089439(+) TACTTA/GTTCTC 3 -- ds50010--------
    rs1452297441,2
    --184089509(+) CACAGA/GAGGGA 3 -- ds50010--------
    rs9529821,2
    C,F,H--184089572(-) CTGAGA/CAAACA 3 -- ds500119Minor allele frequency- T:0.00EA NA NS 1796
    rs1464375841,2
    --184089607(+) ACTGAA/GCTGTC 3 -- ds50010--------
    rs38046181,2
    C,F,H--184089819(-) AATGAA/TTAAGC 3 -- ut3116Minor allele frequency- T:0.12EA NS NA WA 2744
    rs1883187631,2
    --184089911(+) GCCTTG/TAATTT 3 -- ut310--------
    rs563059051,2
    C--184090172(+) CTGTGC/TATCCC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for THPO (184089723 - 184095932 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for THPO:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422400CNV Duplication17116639
    nsv878060CNV Loss21882294
    nsv829813CNV Loss17160897

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600044   
    OMIM disorders: 187950  
    UniProtKB/Swiss-Prot: TPO_HUMAN, P40225
  • Thrombocythemia 1 (THCYT1) [MIM:187950]: 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

  • Selected diseases for THPO (see all 113):    
    About MalaCards
    essential thrombocythemia    thrombocythemia 1    thrombocytosis    hereditary thrombocytosis with transverse limb defect
    cyclic thrombocytopenia    thpo-related essential thrombocythemia    hypersplenism    3q21q26 syndrome
    dengue disease    congenital amegakaryocytic thrombocytopenia    splenic sequestration    pancytopenia
    autoimmune thrombocytopenic purpura    myelofibrosis    purpura    chronic myeloproliferative disease
    hemorrhagic thrombocythemia    osteosclerosis    leukemia    deficiency anemia

    13 diseases from the University of Copenhagen DISEASES database for THPO:
    Thrombocytopenia     Thrombocytosis     Autoimmune thrombocytopenic purpura     Myelofibrosis
    Chronic myeloproliferative disease     Anemia     Polycythemia     Leukemia
    Neutropenia     Splenic sequestration     Hypersplenism     Liver disease
    thrombocytopenia-absent radius syndrome

    THPO for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for THPO gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thrombocytosis 89.8 266 10190944 (6), 9626028 (6), 15300887 (6), 9375739 (6) (see all 97)
    thrombocytopenia 88.8 573 15929762 (6), 10406902 (6), 9657431 (6), 11446655 (5) (see all 99)
    amegakaryocytic thrombocytopenia, congenital 88.7 8 16413394 (1), 17666371 (1), 12799278 (1), 9029014 (1) (see all 5)
    thrombocythemia essential 79.6 54 9626028 (4), 17455310 (3), 10679802 (2), 11877088 (2) (see all 32)
    purpura thrombocytopenic 79 22 8950771 (2), 10759004 (2), 8652398 (2), 9292514 (1) (see all 16)
    myeloproliferative disorders 77.4 24 10776693 (2), 9207394 (2), 15899890 (1), 18414650 (1) (see all 19)
    purpura thrombocytopenic idiopathic 77.4 55 9690802 (2), 11913997 (2), 9829848 (2), 11758228 (2) (see all 30)
    myelofibrosis 69.4 21 9163612 (3), 17374740 (2), 9614574 (2), 16456374 (1) (see all 13)
    polycythemia vera 69.3 11 15085152 (1), 14663167 (1), 10190944 (1), 15477204 (1) (see all 9)
    anemia aplastic 67.5 39 9639498 (2), 8652398 (2), 16915226 (2), 11514400 (2) (see all 27)

    Genatlas disease: THPO
    thrombocythemia,myeloproliferative syndrome due to a sustained proliferation of megakaryocytes,resulting in
    thrombotic or hemorrhagic episodes and a risk of leukemia

    Genetic Association Database (GAD): THPO
    Human Genome Epidemiology (HuGE) Navigator: THPO (13 documents)

    Export disorders for THPO 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 THPO gene, integrated from 10 sources (see all 1182):
    (articles sorted by number of sources associating them with THPO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. (PubMed id 8202154)1, 2, 3 de Sauvage F.J.... Eaton D.L. (Nature 1994)
    2. 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)
    3. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. (PubMed id 9425899)1, 2, 9 Wiestner A.... Skoda R.C. (Nat. Genet. 1998)
    4. Lack of pathogenic mutations in the 5'-untranslated region of the thrombopoietin gene in patients with non-familial essential thrombocythaemia. (PubMed id 11860444)1, 4, 9 Allen A.J....Linch D.C. (Eur. J. Haematol. 2001)
    5. Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin. (PubMed id 7849319)1, 2, 9 Gurney A.L....de Sauvage F.J. (Blood 1995)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    8. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    9. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    10. Structure of the receptor-binding domain of human thrombopoietin determined by complexation with a neutralizing antibody fragment. (PubMed id 14769915)1, 2 Feese M.D.... Kuroki R. (Proc. Natl. Acad. Sci. U.S.A. 2004)

    (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: 7066 HGNC: 11795 AceView: THPO Ensembl:ENSG00000090534 euGenes: HUgn7066
    ECgene: THPO Kegg: 7066 H-InvDB: THPO

    (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 THPO Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for THPO Genetics and Cytogenetics in Oncology and Haematology
    R&D Systems' cytokine source book: Thrombopoietinhttp://www.rndsystems.com/molecule_detail.aspx?m=2168
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TPO[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 THPO gene:
    Search GeneIP for patents involving THPO

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



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