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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
THPO
thrombopoietin
Chromosome 3
NCBI Gene: 7066Ensembl: ENSG00000090534.20HGNC: HGNC:11795UniProt: A0A3B3ITS0
152PubMed Papers
23Diseases
0Drugs
17Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of hematopoietic stem cell proliferationpositive regulation of cell population proliferationmegakaryocyte differentiationmegakaryocyte developmentthrombocythemia 1essential thrombocythemiaamegakaryocytic thrombocytopenia, congenital, 2thrombocytopenia 9
✦AI Summary

THPO (thrombopoietin) is an essential cytokine that serves as the primary regulator of platelet production and hematopoietic stem cell (HSC) maintenance 1. The protein functions by binding to its receptor MPL, forming a homodimeric signaling complex that activates multiple downstream pathways including JAK/STAT and ERK/AKT/CREB signaling 1. THPO acts at late stages of megakaryocyte development, promoting both megakaryocyte differentiation and platelet production while simultaneously maintaining HSC pools 1. The gene's transcription is regulated by transcription factors ETS1 and STAT4 binding to its promoter region 2. Disease-associated mutations in THPO cause congenital amegakaryocytic thrombocytopenia type 2 (CAMT2), characterized by severe thrombocytopenia progressing to bone marrow failure 32. Pathogenic variants can affect coding regions, splicing sites, or regulatory sequences, commonly resulting in increased THPO protein production through mechanisms like upstream open reading frame disruption 4. Clinically, THPO deficiency can be treated with THPO receptor agonists, demonstrating the therapeutic importance of understanding this pathway in bone marrow failure disorders 25.

Sources cited
1
THPO is essential for HSC maintenance and megakaryocyte differentiation, binds MPL receptor in homodimeric complex, activates JAK/STAT and ERK/AKT/CREB pathways
PMID: 37633268
2
THPO transcription is regulated by ETS1 and STAT4 transcription factors, mutations can cause CAMT, treatable with THPO receptor agonists
PMID: 36226497
3
THPO mutations cause CAMT2 with thrombocytopenia and bone marrow failure
PMID: 39479124
4
Pathogenic THPO variants increase protein production through upstream ORF disruption mechanisms
PMID: 38548144
5
THPO plays important role in HSC maintenance and CAMT is treatable with THPO receptor agonists
PMID: 29191946
Disease Associationsβ“˜23
thrombocythemia 1Open Targets
0.70Strong
essential thrombocythemiaOpen Targets
0.63Moderate
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.52Moderate
thrombocytopenia 9Open Targets
0.51Moderate
ThrombocytopeniaOpen Targets
0.49Moderate
congenital amegakaryocytic thrombocytopeniaOpen Targets
0.46Moderate
thrombocytopenia 4Open Targets
0.43Moderate
genetic disorderOpen Targets
0.41Moderate
hemorrhagic diseaseOpen Targets
0.40Moderate
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.38Weak
familial thrombocytosisOpen Targets
0.37Weak
hereditary isolated aplastic anemiaOpen Targets
0.37Weak
hereditary thrombocytosis with transverse limb defectOpen Targets
0.37Weak
inherited aplastic anemiaOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
MacrothrombocytopeniaOpen Targets
0.15Weak
Abnormal bleedingOpen Targets
0.11Weak
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.08Suggestive
COVID-19Open Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Amegakaryocytic thrombocytopenia, congenital, 2UniProt
Thrombocythemia 1UniProt
Thrombocytopenia 9UniProt
Pathogenic Variants17
NM_000460.4(THPO):c.469C>T (p.Arg157Ter)Pathogenic
not provided|Thrombocytopenia|Amegakaryocytic thrombocytopenia, congenital, 2
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_000460.4(THPO):c.13+1G>CPathogenic
Thrombocythemia 1|not provided
β˜…β˜…β˜†β˜†2023
NM_000460.4(THPO):c.262_265del (p.Val88fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 88
NM_000460.4(THPO):c.754del (p.Glu252fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 252
NM_000460.4(THPO):c.13+1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_000460.4(THPO):c.530dup (p.Pro178fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 178
NM_000460.4(THPO):c.295C>T (p.Arg99Trp)Pathogenic
not provided|Amegakaryocytic thrombocytopenia, congenital, 2|Thrombocytopenia 9
β˜…β˜†β˜†β˜†2024β†’ Residue 99
NM_000460.4(THPO):c.-64_-63dupLikely pathogenic
Thrombocytopenia 9
β˜…β˜†β˜†β˜†2024
NM_000460.4(THPO):c.355C>T (p.Arg119Cys)Likely pathogenic
not provided|Amegakaryocytic thrombocytopenia, congenital, 2
β˜…β˜†β˜†β˜†2023β†’ Residue 119
NM_000460.4(THPO):c.-31G>TLikely pathogenic
Thrombocythemia 1|not provided
β˜…β˜†β˜†β˜†2022
NM_000460.4(THPO):c.-47delPathogenic
Thrombocythemia 1
β˜…β˜†β˜†β˜†2020
NM_000460.4(THPO):c.112C>T (p.Arg38Cys)Pathogenic
Inborn genetic diseases|Amegakaryocytic thrombocytopenia, congenital, 2
β˜…β˜†β˜†β˜†2019β†’ Residue 38
NM_000460.4(THPO):c.247G>A (p.Asp83Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 83
NM_000460.4(THPO):c.91C>T (p.Arg31Ter)Likely pathogenic
Thrombocytopenia|Thrombocytopenia 9
β˜…β˜†β˜†β˜†β†’ Residue 31
NM_000460.4(THPO):c.-324C>TPathogenic
Amegakaryocytic thrombocytopenia, congenital, 2
β˜…β˜†β˜†β˜†
NM_000460.4(THPO):c.13+2T>CLikely pathogenic
Thrombocythemia 1
β˜†β˜†β˜†β˜†2018
NM_000460.4(THPO):c.825del (p.Ser276fs)Pathogenic
Thrombocytopenia
β˜†β˜†β˜†β˜†β†’ Residue 276
View on ClinVar β†—
Related Genes
JAK2Protein interaction100%PRLRProtein interaction99%CD34Protein interaction98%CSF3Protein interaction98%CSH1Protein interaction98%GH1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
8%
Heart
2%
Lung
1%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
THPOJAK2PRLRCD34CSF3CSH1GH1
PROTEIN STRUCTURE
Preparing viewer…
PDB1V7M Β· 2.51 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.46–1.12]
RankingsWhere THPO stands among ~20K protein-coding genes
  • #2,982of 20,598
    Most Researched152 Β· top quartile
  • #2,327of 5,498
    Most Pathogenic Variants17
  • #11,483of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedTHPO
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
PMID: 33712866
Ann Hematol Β· 2021
1.00
2
Structure of the thrombopoietin-MPL receptor complex is a blueprint for biasing hematopoiesis.
PMID: 37633268
Cell Β· 2023
0.90
3
A Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review.
PMID: 39479124
Cureus Β· 2024
0.80
4
Thrombopoietin participates in platelet activation in COVID-19 patients.
PMID: 36242922
EBioMedicine Β· 2022
0.80
5
A network map of thrombopoietin signaling.
PMID: 30039510
J Cell Commun Signal Β· 2018
0.72