THPO (thrombopoietin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7066
Gene name Thrombopoietin
Gene symbol THPO
Synonyms (NCBI Gene)
CAMT2MGDFMKCSFMLMPLLGTHC9THCYT1TPO
Chromosome 3
Chromosome location -
Summary 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 thromb
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs1042348 A>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, synonymous variant
rs760797899 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1005731602 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT022813 hsa-miR-124-3p Microarray 18668037
MIRT2348708 hsa-miR-1245b-5p CLIP-seq
MIRT2348709 hsa-miR-2467-3p CLIP-seq
MIRT2348710 hsa-miR-3121-5p CLIP-seq
MIRT2348711 hsa-miR-3142 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0001934 Process Positive regulation of protein phosphorylation ISS
GO:0005102 Function Signaling receptor binding IBA
GO:0005125 Function Cytokine activity IDA 7822271
GO:0005125 Function Cytokine activity IEA
GO:0005179 Function Hormone activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600044 11795 ENSG00000090534
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40225
Protein name Thrombopoietin (C-mpl ligand) (ML) (Megakaryocyte colony-stimulating factor) (Megakaryocyte growth and development factor) (MGDF) (Myeloproliferative leukemia virus oncogene ligand)
Protein 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 platel
PDB 1V7M , 1V7N , 8G04
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00758 EPO_TPO 25 → 176 Erythropoietin/thrombopoietin Domain
Sequence 
MELTELLLVVMLLLTARLTLSSPAPPACDLRVLSKLLRDSHVLHSRLSQCPEVHPLPTPV
LLPAVDFSLGEWKTQMEETKAQDILGAVTLLLEGVMAARGQLGPTCLSSLLGQLSGQVRL
LLGALQSLLGTQLPPQGRTTAHKDPNAIFLSFQHLLRGKVRFLMLVGGSTLCVRRAPPTT
AVPSRTSLVLTLNELPNRTSGLLETNFTASARTTGSGLLKWQQGFRAKIPGLLNQTSRSL
DQIPGYLNRIHELLNGTRGLFPGPSRRTLGAPDISSGTSDTGSLPPNLQPGYSPSPTHPP
TGQYTLFPLPPTLPTPVVQLHPLLPDPSAPTPTPTSPLLNTSYTHSQNLSQEG
Sequence length 353
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cytokine-cytokine receptor interaction
Hormone signaling
JAK-STAT signaling pathway
Hematopoietic cell lineage 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amegakaryocytic thrombocytopenia, congenital, 2 Pathogenic; Likely pathogenic rs1412486198, rs1273225808, rs1181555052, rs2474349217, rs760797899 RCV003325579
RCV003325439
RCV003325623
RCV003985945
RCV003325501
Thrombocythemia 1 Likely pathogenic; Pathogenic rs2108623965, rs771269271, rs1714397896, rs1714390786 RCV000010116
RCV000010118
RCV001093614
RCV001252954
Thrombocytopenia Pathogenic; Likely pathogenic rs1412486198, rs2108617673, rs762155929 RCV003314013
RCV002245411
RCV002280964
Thrombocytopenia 9 Likely pathogenic; Pathogenic rs762155929, rs1273225808 RCV003325598
RCV003324718
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Uncertain significance rs776536238 RCV001270510
Acute myeloid leukemia Benign rs16858759 RCV005918409
Macrothrombocytopenia Uncertain significance rs1577354471, rs776536238 RCV000852224
RCV000852174
Malignant tumor of esophagus Benign rs16858759 RCV005918410
Show/Hide Text Mining Associations (71)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Absent radii and thrombocytopenia Associate 21933853
Acute Coronary Syndrome Associate 17161245
Acute Coronary Syndrome Stimulate 34210000
Adenocarcinoma Associate 24299561
Anemia Aplastic Associate 10027723, 24085763, 33586472, 9639498
Angina Unstable Associate 17161245
Atherosclerosis Associate 34210000
Bernard Soulier Syndrome Associate 34333846
Blood Platelet Disorders Associate 8639762
Bone Marrow Failure Disorders Associate 29191945