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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amegakaryocytic thrombocytopenia, congenital, 2 Pathogenic; Likely pathogenic rs1412486198, rs1273225808, rs1181555052, rs2474349217, rs760797899 RCV003325579
RCV003325439
RCV003325623
RCV003985945
RCV003325501
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocythemia 1 Likely pathogenic; Pathogenic rs2108623965, rs771269271, rs1714397896, rs1714390786 RCV000010116
RCV000010118
RCV001093614
RCV001252954
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia Pathogenic; Likely pathogenic rs1412486198, rs2108617673, rs762155929 RCV003314013
RCV002245411
RCV002280964
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 9 Likely pathogenic; Pathogenic rs762155929, rs1273225808 RCV003325598
RCV003324718
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (161)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 9529122
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10995006
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 4084458, 9880100
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28962071
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28079612
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 9766506
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 22460221
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 10027723, 24085763, 33586472, 9639498 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Diamond-Blackfan Anemia LHGDN 12041668
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Diamond-Blackfan Anemia BEFREE 15531462
★★★★★
★☆☆☆☆
Found in Text Mining only