THPO thrombopoietin
Gene ID: 7066, updated on 13-Apr-2024Gene type: protein coding
Also known as: ML; TPO; MGDF; THC9; CAMT2; MKCSF; MPLLG; THCYT1
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- Go to complete Gene record for THPO
- Go to Variation Viewer for THPO variants
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. [provided by RefSeq, Feb 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amegakaryocytic thrombocytopenia, congenital, 2 | not available |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Thrombocythemia 1 | See labs |
| Thrombocytopenia 9 | not available |
Genomic context
- Location:
- 3q27.1
- Sequence:
- Chromosome: 3; NC_000003.12 (184371935..184379688, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for THPO variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- THPO database
- Variation ViewerRelated Variants
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