Gene: THPO

Alternate names for this Gene: MGDF|MKCSF|ML|MPLLG|THCYT1|TPO

Gene 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 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: thrombopoietin

Type of Gene: protein-coding

rs6141 in THPO gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs34623301 in THPO gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 27668658 2016 Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

rs6141 in THPO gene and Platelet mean volume determination (procedure) PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.