THPO (thrombopoietin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7066
Gene name Gene Name - the full gene name approved by the HGNC.
Thrombopoietin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THPO
Synonyms (NCBI Gene) Gene synonyms aliases
CAMT2, MGDF, MKCSF, ML, MPLLG, THC9, THCYT1, TPO
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
-
Summary Summary of gene provided in NCBI Entrez 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 thromb
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600044 11795 ENSG00000090534
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Amegakaryocytic Thrombocytopenia Amegakaryocytic thrombocytopenia, congenital, 2 rs760797899 N/A
Thrombocythemia thrombocythemia 1 rs2108623965, rs771269271, rs1714397896 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Macrothrombocytopenia macrothrombocytopenia N/A N/A ClinVar
Thrombocytosis hereditary thrombocytosis with transverse limb defect N/A N/A GenCC
Show/Hide Text Mining Associations (71)
Associations from Text Mining Disease 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