MPL

MPL proto-oncogene, thrombopoietin receptor

Summary

In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]

Known Variants599 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7102521:43,803,222G/A—benign
rs7463849231:43,803,507A/C—uncertain significance
rs21539160911:43,803,525C/T—likely benign
rs13167714641:43,803,528C/G—likely benign
rs7521120871:43,803,529T/C—uncertain significance
rs7554102331:43,803,530G/A—pathogenic
rs16470046731:43,803,531G/A—uncertain significance
rs5722084581:43,803,541A/G—uncertain significance
rs13439481191:43,803,546C/T—likely benign
rs21539161091:43,803,561C/T—likely benign
rs16470048691:43,803,568C/T—uncertain significance
rs21539161141:43,803,570T/G—likely benign
rs7527061831:43,803,576C/A—conflicting classifications of pathogenicity
rs21539161261:43,803,588C/A—likely benign
rs16470049581:43,803,599G/T—likely pathogenic
rs1462499641:43,803,600T/Asplice region variantpathogenic
rs21539161351:43,803,605T/C—likely benign
rs13670555581:43,803,606G/C—likely benign
rs13396762121:43,803,607C/T—likely benign
rs25456733881:43,803,608A/C—likely benign
rs13976642901:43,803,613G/A—likely benign
rs5546494621:43,803,614G/T—likely benign
rs7788175031:43,803,615G/A—likely benign
rs13078907471:43,803,616T/C—likely benign
rs25456734011:43,803,617G/A—likely benign
rs7458808891:43,803,618G/A—likely benign
rs7789056571:43,803,751C/T—likely benign
rs25456736171:43,803,753C/T—likely benign
rs13089746551:43,803,755C/T—likely benign
rs13522173871:43,803,759C/A—likely benign
rs21539162061:43,803,761G/T—likely benign
rs21539162071:43,803,763T/C—likely benign
rs25456736311:43,803,779T/A—pathogenic
rs8788547711:43,803,782T/C—uncertain significance
rs7469148311:43,803,784G/A—uncertain significance
rs8860463481:43,803,785C/T—uncertain significance
rs16470064201:43,803,786A/G—likely benign
rs12282278261:43,803,788C/A—likely pathogenic
rs21539162231:43,803,795A/G—likely benign
rs172926501:43,803,807G/Tmissense variantrisk factor
rs7478640271:43,803,810T/C—likely benign
rs1484344851:43,803,817C/Tstop gainedpathogenic
rs7724454861:43,803,821C/T—uncertain significance
rs13982606141:43,803,826G/A—uncertain significance
rs7643337531:43,803,835A/G—uncertain significance
rs25456737331:43,803,837T/C—likely benign
rs16470067571:43,803,840C/T—likely benign
rs21539162501:43,803,844T/C—uncertain significance
rs25456737441:43,803,845G/A—likely pathogenic
rs7539501081:43,803,849T/C—likely benign
rs7619224961:43,803,852G/A—likely benign
rs60871:43,803,863C/T—conflicting classifications of pathogenicity
rs1410774131:43,803,864G/A—likely benign
rs2017279751:43,803,875C/T—uncertain significance
rs13736233831:43,803,879C/A—pathogenic
rs21539162731:43,803,880C/T—pathogenic
rs25456737971:43,803,882G/A—likely benign
rs8860463491:43,803,886C/T—conflicting classifications of pathogenicity
rs16470073081:43,803,888G/A—likely benign
rs14397888421:43,803,895T/C—pathogenic
rs25456738181:43,803,896A/G—uncertain significance
rs21539162831:43,803,897C/T—likely benign
rs617547761:43,803,899C/T—likely benign
rs60861:43,803,900G/A—likely benign
rs3687531171:43,803,902G/A—uncertain significance
rs1425651911:43,803,903G/A—conflicting classifications of pathogenicity
rs12515527281:43,803,910C/T—likely benign
rs25456738821:43,803,912G/A—likely benign
rs25456738921:43,803,919G/T—likely benign
rs3720653351:43,804,193G/C—likely benign
rs7773171101:43,804,201C/T—likely benign
rs21539164161:43,804,206C/T—likely benign
rs16470095471:43,804,207C/T—likely benign
rs8674042621:43,804,212G/A—likely pathogenic
rs14067158631:43,804,214G/T—pathogenic
rs7489578801:43,804,219G/A—likely benign
rs1482766671:43,804,224G/A—uncertain significance
rs7473783681:43,804,231C/T—likely benign
rs25456745271:43,804,234C/T—likely benign
rs7691016401:43,804,237G/C—likely benign
rs21539164421:43,804,242C/T—uncertain significance
rs16470097851:43,804,244C/T—likely pathogenic
rs7486416931:43,804,251T/C—uncertain significance
rs7698030491:43,804,252G/A—uncertain significance
rs15574630661:43,804,255C/T—likely benign
rs5877785161:43,804,263G/A—likely pathogenic
rs16470099701:43,804,264A/T—likely benign
rs7631446791:43,804,268C/T—pathogenic
rs7666388701:43,804,269G/A—uncertain significance
rs7593619041:43,804,273C/A—pathogenic
rs21539164711:43,804,279C/T—likely benign
rs16470101551:43,804,280C/T—likely pathogenic
rs7526828071:43,804,292C/T—pathogenic
rs7635682931:43,804,304C/T—pathogenic
rs289289071:43,804,305G/Amissense variantpathogenic
rs1403549351:43,804,306T/A—likely benign
rs25456746661:43,804,309C/A—likely benign
rs11961616991:43,804,311T/C—likely pathogenic
rs1453138141:43,804,313T/C—uncertain significance
rs21539165071:43,804,315T/C—likely benign

Showing 100 of 599 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.