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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 ERK Signaling and Akt Signaling. Gene Ontology (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

Additional gene information for THPO Gene

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

Genomics for THPO Gene

GeneHancer (GH) Regulatory Elements for THPO Gene

Promoters and enhancers for THPO Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J184377 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +2.8 2766 3.2 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 GLIS2 ZNF263 RXRA THPO CHRD RPS3P3 DVL3 POLR2H EIF2B5 ABCF3
GH03J184376 Promoter 0.6 EPDnew 650.4 +5.8 5764 0.1 STAT1 THPO CHRD POLR2H
GH03J184524 Enhancer 1 Ensembl ENCODE 11.8 -143.7 -143699 1.7 YY1 ZNF335 GLIS2 ZNF366 EGR2 SP3 ZNF398 ZEB2 REST ZNF585B MAGEF1 LINC02054 YEATS2 CHRD THPO LINC01840 CLCN2 POLR2H EPHB3 FAM131A
GH03J184590 Enhancer 1 Ensembl ENCODE dbSUPER 10.6 -211.0 -210963 5 ZFHX2 SP2 KLF17 RCOR1 ZNF398 CHD2 EGR2 ZBTB17 MAGEF1 EPHB3 LINC01840 CHRD THPO FAM131A EIF4G1
GH03J184543 Enhancer 0.9 Ensembl ENCODE 11.6 -162.3 -162254 0.7 CTCF RB1 SIN3A NFXL1 ZNF2 RAD21 HIC1 ZNF207 SMC3 ZNF143 RPS3P3 DVL3 POLR2H CHRD THPO MAGEF1 EIF2B5 FAM131A EIF4G1 LINC01840
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THPO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THPO gene promoter:
  • AP-1
  • STAT3

Genomic Locations for THPO Gene

Genomic Locations for THPO Gene
chr3:184,371,935-184,381,968
(GRCh38/hg38)
Size:
10,034 bases
Orientation:
Minus strand
chr3:184,089,723-184,095,932
(GRCh37/hg19)
Size:
6,210 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 posLast=348348, isoforms=2, 3340, posLast=265265, isoforms=2, 3255, posLast=234234, posLast=213213, isoforms=2, 3206, isoforms=2197, posLast=184184, isoforms=2180, isoforms=2179, isoforms=2, 3131, isoforms=2, 358, and posLast=2222
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TPO_HUMAN (592)

No data available for DME Specific Peptides for THPO Gene

Domains & Families for THPO Gene

Gene Families for THPO Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted secreted proteins

Protein Domains 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

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.
GENATLAS Biochemistry:
thrombopoietin,hematopoietic growth factor (MPL ligand),with two alternatively spliced forms expressed in fetal liver and spleen

Phenotypes From GWAS Catalog for THPO Gene

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:
  • Thpo Thpo<tm1.1(KOMP)Vlcg>
  • Thpo Thpo<tm1Mwm>

Animal Model Products

miRNA for THPO Gene

miRTarBase miRNAs that target THPO

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for THPO Gene

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:0010469 regulation of signaling receptor activity IEA --
GO:0030099 myeloid cell differentiation IDA --
genes like me logo Genes that share ontologies with THPO: view

Drugs & Compounds for THPO Gene

(53) 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

(46) 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

mRNA/cDNA for THPO Gene

(13) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for THPO Gene

Thrombopoietin:
Representative Sequences:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for THPO Gene

  • Liver(4.5)
  • Nervous system(4.2)
  • Blood(3.2)
  • Bone marrow(3.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for THPO Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • skull
Thorax:
  • heart
Abdomen:
  • liver
  • spleen
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with THPO: view

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 33
  • 98.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia THPO 34 33
  • 86.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia THPO 34 33
  • 84.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thpo 33
  • 84.16 (n)
mouse
(Mus musculus)
Mammalia Thpo 16 34 33
  • 80.59 (n)
oppossum
(Monodelphis domestica)
Mammalia THPO 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPO 34
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THPO 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for THPO: view image

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 Variation AA Info Type
rs180680111 uncertain-significance, not specified, Essential thrombocythemia 184,372,495(-) C/T 3_prime_UTR_variant
rs187556243 uncertain-significance, Essential thrombocythemia 184,376,315(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs35794435 benign, likely-benign, not specified, Essential thrombocythemia 184,372,545(-) T/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs3804618 likely-benign, Essential thrombocythemia 184,372,031(-) T/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs530613857 uncertain-significance, Essential thrombocythemia 184,372,686(-) T/A/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2422400 CNV duplication 17116639
nsv592667 CNV loss 21841781
nsv829813 CNV loss 17160897

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)

Additional Variant Information for THPO Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocythemia 1
  • thcyt1
essential thrombocythemia
  • essential thrombocythaemia
thrombocythemia with distal limb defects
  • familial thrombocytosis with transverse limb defect
dyskeratosis congenita, autosomal dominant 6
  • dkca6
acquired thrombocytopenia
  • secondary thrombocytopenia
- 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

Additional Disease Information for THPO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RC (Nature genetics 1998) 3 4 22 58
  2. Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. (PMID: 8202154) de Sauvage FJ … Kuang WJ (Nature 1994) 2 3 4 58
  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 (American journal of obstetrics and gynecology 2010) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  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 (American journal of obstetrics and gynecology 2010) 3 44 58

Products for THPO Gene

Sources for THPO Gene

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