AlphaFold predicted structure
MPL · P40238
Mean pLDDT
72.7/ 100
Confident
635 residues
Confidence breakdown
- Very high(≥ 90)32%
- Confident(70–90)35%
- Low(50–70)11%
- Very low(< 50)23%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
MPL
Chr 1p34.2MPL proto-oncogene, thrombopoietin receptor
- Aliases:
- CD110, TPOR, THPOR
- MANE:
- ENST00000372470.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomalThrombocythaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital amegakaryocytic thrombocytopenia 1
0.82thrombocythemia 2
0.77congenital amegakaryocytic thrombocytopenia
0.75Thrombocytopenia
0.72primary myelofibrosis
0.71essential thrombocythemia
0.66autoimmune thrombocytopenic purpura
0.63aplastic anemia
0.54hemorrhage
0.53chronic hepatitis C virus infection
0.50
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Thrombopoietin receptor
Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites for many signaling proteins such as STAT5, SHIP/INPP5D, GRB2, SOS1 and PI3K (PubMed:15899890, PubMed:37633268). In turn, These signaling cascades lead to the proliferation, survival, and differentiation of megakaryocytes, ultimately leading to increased platelet production
Diseases associated with MPL
Curated MONDO disease pages that list MPL among their top associated genes.