THPO Chromosome 3
Thrombopoietin
Upload your DNA to see your personal genotypes for variants in THPO.
What This Gene Does
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 thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Receptor ligands
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000090534
Associated Conditions (8)
Inborn genetic diseases
THPO-related disorder
Thrombocythemia 1
Thrombocytopenia 9
Amegakaryocytic thrombocytopenia
congenital
2
Thrombocytopenia
Key Variants
RS1042348
Conflicting classifications of pathogenicity
Inborn genetic diseases, THPO-related disorder, Inborn genetic diseases
Health Risk
RS140178375
Conflicting classifications of pathogenicity
THPO-related disorder, THPO-related disorder
Health Risk
RS143216798
Conflicting classifications of pathogenicity
Thrombocythemia 1, Inborn genetic diseases, Thrombocythemia 1
Health Risk
RS180680111
Conflicting classifications of pathogenicity
Thrombocythemia 1, Thrombocythemia 1
Health Risk
RS187556243
Conflicting classifications of pathogenicity
Thrombocythemia 1, Thrombocytopenia 9, Amegakaryocytic thrombocytopenia
Health Risk
RS200191903
Conflicting classifications of pathogenicity
Thrombocythemia 1, Thrombocythemia 1
Health Risk
RS200666378
Conflicting classifications of pathogenicity
Thrombocythemia 1, Thrombocythemia 1
Health Risk
RS202166253
Conflicting classifications of pathogenicity
Thrombocythemia 1, Thrombocythemia 1
Health Risk
RS377138170
Conflicting classifications of pathogenicity
Thrombocythemia 1, THPO-related disorder, Inborn genetic diseases
Health Risk
RS530613857
Conflicting classifications of pathogenicity
Thrombocythemia 1, Inborn genetic diseases, Thrombocytopenia 9
Health Risk
RS577831346
Conflicting classifications of pathogenicity
Health Risk
RS1005731602
Likely pathogenic
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042348 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, THPO-related disorder, Inborn genetic diseases |
| RS140178375 | Health Risk | Conflicting classifications of pathogenicity | THPO-related disorder, THPO-related disorder |
| RS143216798 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Inborn genetic diseases, Thrombocythemia 1 |
| RS180680111 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Thrombocythemia 1 |
| RS187556243 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Thrombocytopenia 9, Amegakaryocytic thrombocytopenia |
| RS200191903 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Thrombocythemia 1 |
| RS200666378 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Thrombocythemia 1 |
| RS202166253 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Thrombocythemia 1 |
| RS377138170 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, THPO-related disorder, Inborn genetic diseases |
| RS530613857 | Health Risk | Conflicting classifications of pathogenicity | Thrombocythemia 1, Inborn genetic diseases, Thrombocytopenia 9 |
| RS577831346 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1005731602 | Health Risk | Likely pathogenic | — |
| RS1181555052 | Health Risk | Likely pathogenic | Amegakaryocytic thrombocytopenia, congenital, 2 |
| RS1714390786 | Health Risk | Likely pathogenic | Thrombocythemia 1, Thrombocythemia 1 |
| RS762155929 | Health Risk | Likely pathogenic | Thrombocytopenia, Thrombocytopenia 9, Thrombocytopenia |
| RS771269271 | Health Risk | Likely pathogenic | Thrombocythemia 1, Thrombocythemia 1 |
| RS1273225808 | Health Risk | Pathogenic | Amegakaryocytic thrombocytopenia, congenital, 2 |
| RS1412486198 | Health Risk | Pathogenic | Thrombocytopenia, Amegakaryocytic thrombocytopenia, congenital |
| RS1714397896 | Health Risk | Pathogenic | Thrombocythemia 1, Thrombocythemia 1 |
| RS2108617673 | Health Risk | Pathogenic | Thrombocytopenia, Thrombocytopenia |
| RS2474349217 | Health Risk | Pathogenic | Amegakaryocytic thrombocytopenia, congenital, 2 |
| RS760797899 | Health Risk | Pathogenic | Inborn genetic diseases, Amegakaryocytic thrombocytopenia, congenital |
| RS2108623965 | Health Risk | Pathogenic/Likely pathogenic | Thrombocythemia 1, Thrombocythemia 1 |