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Aliases for THPO Gene

Aliases for THPO Gene

  • Thrombopoietin 2 3 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 Essential Thrombocythemia. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. 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

Enhancers for THPO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F184523 1.3 Ensembl ENCODE 11.8 -145.5 -145514 2.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 FOS PAF1 SP3 SP5 MAGEF1 LINC02054 CHRD THPO LINC01840 CLCN2 POLR2H EPHB3 FAM131A EIF4G1
GH03F184543 1.2 Ensembl ENCODE 11.6 -164.5 -164528 0.7 SREBF2 ZNF76 SIN3A INSM2 ARID4B NFXL1 FEZF1 ZBTB40 ZNF2 RAD21 CHRD THPO MAGEF1 FAM131A EIF4G1 LINC01840 LINC01839
GH03F184531 1 FANTOM5 12.1 -152.0 -152042 0.2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 DEK SP3 SP5 CHRD THPO LINC01840 EPHB3 LINC02054 EIF4G1 SNORD66 FAM131A HTR3E HTR3D
GH03F184464 1 Ensembl ENCODE 11.3 -86.6 -86579 2.7 HDGF KLF1 SREBF2 TAL1 ZNF644 ZNF335 FOSL1 ZNF197 MIER1 ZBTB11 CHRD LINC02054 THPO LINC01840 MAGEF1 FAM131A EIF4G1 EPHB3 LOC105374252
GH03F184417 0.9 ENCODE 11.5 -38.3 -38340 0.2 ATF1 ZNF76 SIN3A ARID4B ZNF48 RAD21 ZNF121 GLIS2 ZNF143 THAP11 CHRD THPO LINC01840 EPHB3 FAM131A POLR2H CLCN2 EIF4G1 PSMD2 LINC02054
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around THPO on UCSC Golden Path with GeneCards custom track

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

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.

Gene Ontology (GO) - Molecular Function for THPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA --
GO:0005179 hormone activity IEA --
GO:0008083 growth factor activity TAS 8202159
genes like me logo Genes that share ontologies with THPO: view
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THPO gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for THPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space 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:0038163 thrombopoietin-mediated signaling pathway ISS --
genes like me logo Genes that share ontologies with THPO: view

Drugs & Compounds for THPO Gene

(52) Drugs for THPO Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anagrelide HCl Pharma Thrombocytopenic agent 0
Eltrombopag Olamine Pharma C-mpl agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for THPO Gene

Compound Action Cas Number
Anagrelide HCl Thrombocytopenic agent 58579-51-4
Eltrombopag Olamine C-mpl agonist 496775-62-3
genes like me logo Genes that share compounds with THPO: view

Transcripts for THPO Gene

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for THPO Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of THPO Gene:

THPO

SOURCE GeneReport for Unigene cluster for THPO Gene:

Hs.1166
genes like me logo Genes that share expression patterns with THPO: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia THPO 34 35
  • 98.8 (n)
cow
(Bos Taurus)
Mammalia THPO 34 35
  • 86.45 (n)
dog
(Canis familiaris)
Mammalia THPO 34 35
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910397 34
  • 84.16 (n)
mouse
(Mus musculus)
Mammalia Thpo 34 16 35
  • 80.59 (n)
oppossum
(Monodelphis domestica)
Mammalia THPO 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPO 35
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THPO 35
  • 29 (a)
OneToOne
Species where no ortholog for THPO was found in the sources mined by GeneCards:
  • 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
rs143216798 Uncertain significance 184,373,455(+) GGAGA(C/T)GGACC reference, missense
rs35794435 Benign 184,372,545(-) CCTAC(A/G)CCCAC reference, missense, utr-variant-3-prime
rs1042346 -- 184,375,988(-) TCTCC(C/T)AACTG reference, missense
rs1042348 -- 184,372,936(-) AGAAC(A/T)ACTGG reference, synonymous-codon, missense
rs10513797 -- 184,374,693(+) TTTTC(A/G)TAGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829813 CNV loss 17160897
nsv592667 CNV loss 21841781
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

Human Gene Mutation Database (HGMD)
THPO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THPO

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

Disorders for THPO Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
thrombocythemia 1
  • thrombocythemia, somatic
essential thrombocythemia
  • essential thrombocythaemia
hereditary thrombocytosis with transverse limb defect
  • familial thrombocytosis with transverse limb defect
dyskeratosis congenita, autosomal dominant 6
  • dyskeratosis congenita, autosomal recessive 7
thpo-related essential thrombocythemia
  • thpo-related primary thrombocytosis
- 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. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. (PMID: 9425899) Wiestner A. … Skoda R.C. (Nat. Genet. 1998) 3 4 22 64
  2. Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. (PMID: 8202154) de Sauvage F.J. … Eaton D.L. (Nature 1994) 2 3 4 64
  3. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R. … Menon R. (Am. J. Obstet. Gynecol. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PMID: 20673868) Romero R. … Menon R. (Am. J. Obstet. Gynecol. 2010) 3 46 64

Products for THPO Gene

Sources for THPO Gene

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