THPO Gene - Thrombopoietin
Key regulator of megakaryocyte differentiation and platelet production
Gene Information Card
| Symbol | THPO |
|---|---|
| Full Name | Thrombopoietin |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 7066 ncbi.nlm.nih.gov/gene/7066 |
| Ensembl ID | ENSG00000125657 |
| UniProt ID | P40225 |
| OMIM ID | 600044 |
| HGNC ID | 11795 |
| Aliases | MGDF, MKCSF, ML, MPLLG, THCYT1, TPO |
Description
The THPO gene encodes thrombopoietin, a cytokine that regulates megakaryocyte differentiation and platelet production. It binds to the MPL receptor, activating JAK-STAT signaling. Mutations in THPO can cause thrombocytopenia or thrombocythemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Essential thrombocythemia | Gain-of-function mutations in THPO lead to increased thrombopoietin production and elevated platelet counts. | OMIM 600044; ClinVar |
| Congenital amegakaryocytic thrombocytopenia | Loss-of-function mutations in THPO or its receptor MPL impair megakaryocyte development. | OMIM 604498; ClinVar |
| Thrombocytopenia | Reduced THPO expression or function leads to low platelet counts. | ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 4.3 | Low |
| Bone marrow | 3.1 | Low |
| Spleen | 2.8 | Low |
| Lung | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.7 | Hepatocellular carcinoma |
| HEK 293 | 6.2 | Embryonic kidney |
| K-562 | 4.5 | Chronic myelogenous leukemia |
| MCF7 | 2.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.79C>T (p.Arg27*) | Nonsense | Rare | Loss of function; associated with thrombocytopenia |
| c.13G>A (p.Gly5Arg) | Missense | Rare | Gain of function; associated with essential thrombocythemia |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; reduced protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations reduce or abolish thrombopoietin activity, leading to thrombocytopenia.
Gain of Function (GOF)
Missense mutations such as p.Gly5Arg increase thrombopoietin production, causing essential thrombocythemia.
Dominant Negative (DN)
No dominant-negative mutations reported in THPO.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity (GO:0005125) | • growth factor activity (GO:0008083) |
| • extracellular space (GO:0005615) | • extracellular region (GO:0005576) |
| • megakaryocyte differentiation (GO:0030219) | • platelet formation (GO:0030220) |
| • positive regulation of tyrosine phosphorylation of STAT protein (GO:0042517) | • JAK-STAT cascade (GO:0007259) |
Pathways
• hsa04630 - JAK-STAT signaling pathway
• hsa04640 - Hematopoietic cell lineage
• hsa05221 - Acute myeloid leukemia
Protein Summary
Thrombopoietin is a 353-amino acid glycoprotein hormone primarily produced in the liver and kidneys. It stimulates megakaryocyte proliferation and differentiation via binding to the MPL receptor, activating JAK2 and STAT5. The protein contains an N-terminal receptor-binding domain and a C-terminal domain involved in glycosylation and secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THPO Knockout HEK293 Cell Line | EDJ-KQ540 | Human | 7066 | Details Get a Quote |
| THPO Knockout HeLa Cell Line | EDJ-KQ54656 | Human | 7066 | Details Get a Quote |
| THPO Knockout A-549 Cell Line | EDJ-KQ63137 | Human | 7066 | Details Get a Quote |
| THPO Knockout HCT 116 Cell Line | EDJ-KQ71610 | Human | 7066 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
