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Aliases for THPO Gene

Aliases for THPO Gene

  • Thrombopoietin 2 3 5
  • Myeloproliferative Leukemia Virus Oncogene Ligand 2 3 4
  • Megakaryocyte Growth And Development Factor 2 3 4
  • Megakaryocyte Colony-Stimulating Factor 2 3 4
  • C-Mpl Ligand 2 3 4
  • Megakaryocyte Stimulating Factor 2 3
  • Prepro-Thrombopoietin 2 3
  • MPL Ligand 2 3
  • MGDF 3 4
  • ML 3 4
  • Thrombopoietin Nirs Variant 1 2
  • THCYT1 3
  • MKCSF 3
  • MPLLG 3
  • TPO 3

External Ids for THPO Gene

Previous HGNC Symbols for THPO Gene

  • MGDF

Previous GeneCards Identifiers for THPO Gene

  • GC03P180507
  • GC03M185083
  • GC03M185491
  • GC03M185410
  • GC03M185572
  • GC03M184089
  • GC03M181496

Summaries for THPO Gene

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 thrombocythemia 1 and hereditary thrombocytosis with transverse limb defect. Among its related pathways are Platelet activation, signaling and aggregation and Metabolism. GO annotations related to this gene include cytokine activity and hormone activity.

UniProtKB/Swiss-Prot for THPO Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THPO Gene

Genomics for THPO Gene

Regulatory Elements for THPO Gene

Promoters for THPO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around THPO on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the THPO gene promoter:

Genomic Location for THPO Gene

Chromosome:
3
Start:
184,371,935 bp from pter
End:
184,379,688 bp from pter
Size:
7,754 bases
Orientation:
Minus strand

Genomic View for THPO Gene

Genes around THPO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THPO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THPO Gene

Proteins for THPO Gene

  • Protein details for THPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40225-TPO_HUMAN
    Recommended name:
    Thrombopoietin
    Protein Accession:
    P40225
    Secondary Accessions:
    • A1L3Y0
    • B7ZLR8
    • B9EGA8
    • Q13020
    • Q15790
    • Q15791
    • Q15792

    Protein attributes for THPO Gene

    Size:
    353 amino acids
    Molecular mass:
    37823 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for THPO Gene

    Alternative splice isoforms for THPO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THPO Gene

Proteomics data for THPO Gene at MOPED

Post-translational modifications for THPO Gene

  • Glycosylation at Ser 22, Thr 58, Thr 131, Thr 179, Thr 180, Ser 184, Asn 197, Asn 206, Thr 213, Asn 234, Asn 255, Ser 265, Asn 340, and Asn 348
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for THPO (Thrombopoietin/Tpo)

Protein Products

No data available for DME Specific Peptides for THPO Gene

Domains & Families for THPO Gene

Gene Families for THPO Gene

Graphical View of Domain Structure for InterPro Entry

P40225

UniProtKB/Swiss-Prot:

TPO_HUMAN :
  • Two-domain structure with an erythropoietin-like N-terminal and a Ser/Pro/Thr-rich C-terminal.
  • Belongs to the EPO/TPO family.
Domain:
  • Two-domain structure with an erythropoietin-like N-terminal and a Ser/Pro/Thr-rich C-terminal.
Family:
  • Belongs to the EPO/TPO family.
genes like me logo Genes that share domains with THPO: view

Function for THPO Gene

Molecular function for THPO Gene

GENATLAS Biochemistry:
thrombopoietin,hematopoietic growth factor (MPL ligand),with two alternatively spliced forms expressed in fetal liver and spleen
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with THPO: view

Human Phenotype Ontology for THPO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for THPO Gene

MGI Knock Outs for THPO:

Animal Model Products

miRNA for THPO Gene

miRTarBase miRNAs that target THPO

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for THPO Gene

Localization for THPO Gene

Subcellular locations from UniProtKB/Swiss-Prot for THPO Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for THPO Gene COMPARTMENTS Subcellular localization image for THPO gene
Compartment Confidence
extracellular 5
cytosol 2
nucleus 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for THPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with THPO: view

Pathways & Interactions for THPO Gene

genes like me logo Genes that share pathways with THPO: view

SIGNOR curated interactions for THPO Gene

Activates:

Gene Ontology (GO) - Biological Process for THPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0007275 multicellular organism development TAS 8202159
GO:0008283 cell proliferation IEA --
GO:0030099 myeloid cell differentiation IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with THPO: view

Drugs & Compounds for THPO Gene

(44) Drugs for THPO Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(53) Additional Compounds for THPO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with THPO: view

Transcripts for THPO Gene

Alternative Splicing Database (ASD) splice patterns (SP) for THPO Gene

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

Relevant External Links for THPO Gene

GeneLoc Exon Structure for
THPO
ECgene alternative splicing isoforms for
THPO

Expression for THPO Gene

mRNA expression in normal human tissues for THPO Gene

mRNA differential expression in normal tissues according to GTEx for THPO Gene

This gene is overexpressed in Liver (x14.7).

SOURCE GeneReport for Unigene cluster for THPO Gene Hs.1166

genes like me logo Genes that share expression patterns with THPO: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for THPO Gene

Orthologs for THPO Gene

This gene was present in the common ancestor of chordates.

Orthologs for THPO Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia THPO 35
  • 86.45 (n)
  • 76.56 (a)
THPO 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia THPO 35
  • 84.92 (n)
  • 75.89 (a)
THPO 36
  • 44 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thpo 35
  • 80.59 (n)
  • 71.31 (a)
Thpo 16
Thpo 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia THPO 35
  • 98.8 (n)
  • 98.2 (a)
THPO 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910397 35
  • 84.16 (n)
  • 77.3 (a)
oppossum
(Monodelphis domestica)
Mammalia THPO 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPO 36
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THPO 36
  • 29 (a)
OneToOne
Species with no ortholog for THPO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for THPO Gene

ENSEMBL:
Gene Tree for THPO (if available)
TreeFam:
Gene Tree for THPO (if available)

Paralogs for THPO Gene

No data available for Paralogs for THPO Gene

Variants for THPO Gene

Sequence variations from dbSNP and Humsavar for THPO Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1042346 - 184,375,988(+) TCTCC(A/C/G/T)AACTG reference, missense
rs1126665 - 184,373,464(-) TTCTG(A/G/T)ACAGG reference, missense
rs6141 -- 184,372,478(-) GTCTC(A/C/G)TGTAC utr-variant-3-prime
rs6142 -- 184,373,361(-) GTCCC(A/C)CTAGA intron-variant
rs952982 -- 184,371,784(-) CTGAG(A/C)AAACA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for THPO Gene

Variant ID Type Subtype PubMed ID
nsv878060 CNV Loss 21882294
nsv829813 CNV Loss 17160897
esv2422400 CNV Duplication 17116639

Variation tolerance for THPO Gene

Residual Variation Intolerance Score: 58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THPO Gene

HapMap Linkage Disequilibrium report
THPO
Human Gene Mutation Database (HGMD)
THPO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THPO Gene

Disorders for THPO Gene

MalaCards: The human disease database

(49) MalaCards diseases for THPO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocythemia 1
  • thrombocythemia, somatic
hereditary thrombocytosis with transverse limb defect
  • familial thrombocytosis with transverse limb defect
thpo-related essential thrombocythemia
  • thpo-related primary thrombocytosis
myelofibrosis
  • agnogenic myeloid metaplasia
hemorrhagic thrombocythemia
  • essential thrombocythaemia
- elite association - COSMIC cancer census association via MalaCards
Search THPO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPO_HUMAN
  • 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.

Genatlas disease for THPO Gene

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

Relevant External Links for THPO

Genetic Association Database (GAD)
THPO
Human Genome Epidemiology (HuGE) Navigator
THPO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THPO
genes like me logo Genes that share disorders with THPO: view

Publications for THPO Gene

  1. Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. (PMID: 8202154) de Sauvage F.J. … Eaton D.L. (Nature 1994) 2 3 4 67
  2. Thrombopoietin and its splicing variants: structure and functions in thrombopoiesis and beyond. (PMID: 18433726) Marcucci R. … Romano M. (Biochim. Biophys. Acta 2008) 3 23
  3. A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family. (PMID: 18367486) Liu K. … Skoda R.C. (Haematologica 2008) 3 23
  4. Human thrombopoietin reduces myocardial infarct size, apoptosis, and stunning following ischaemia/reperfusion in rats. (PMID: 18006466) Baker J.E. … Gross G.J. (Cardiovasc. Res. 2008) 3 23
  5. Complex splicing control of the human Thrombopoietin gene by intronic G runs. (PMID: 17158158) Marcucci R. … Romano M. (Nucleic Acids Res. 2007) 3 23

Products for THPO Gene

Sources for THPO Gene

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