Mpl gene mpl proto-oncogene, thrombopoietin receptor Normal Function

Other Names for This Gene
•
C-MPL 
•
CD110 
•
MPLV 
•
myeloproliferative leukemia protein 
•
myeloproliferative leukemia virus oncogene 
•
proto-oncogene c-Mpl 
•
thrombopoietin receptor 

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Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/)
3
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thrombopoietin receptor precursor 
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TPO-R 
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TPOR 
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TPOR_HUMAN 
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
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Tests of MPL (https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=4352[geneid]) 
Scientific Articles on PubMed
•
PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=%28%28MPL%5BTIAB%5D%29+
OR+%28myeloproliferative+leukemia+virus+oncogene%5BTIAB%5D%29%29+AND
+%28%28Genes%5BMH%5D%29+OR+%28Genetic+Phenomena%5BMH%5D%29
%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+360+days
%22%5Bdp%5D) 
Catalog of Genes and Diseases from OMIM
•
MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE (https://omim.org/entry/
159530) 
Gene and Variant Databases
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NCBI Gene (https://www.ncbi.nlm.nih.gov/gene/4352) 
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ClinVar (https://www.ncbi.nlm.nih.gov/clinvar?term=MPL[gene]) 
References
•
Chaligné R, Tonetti C, Besancenot R, Roy L, Marty C, Mossuz P, Kiladjian JJ,Socié 
G, Bordessoule D, Le Bousse-Kerdilès MC, Vainchenker W, Giraudier S. 
Newmutations of MPL in primitive myelofibrosis: only the MPL W515 mutations 
promote a G1/S-phase transition. Leukemia. 2008 Aug;22(8):1557-66. doi:10.1038/
leu.2008.137. Epub 2008 Jun 5. Citation on PubMed (https://pubmed.ncbi.nlm.nih.go
v/18528423) 
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Ding J, Komatsu H, Iida S, Yano H, Kusumoto S, Inagaki A, Mori F, Ri M, Ito A,
Wakita A, Ishida T, Nitta M, Ueda R. The Asn505 mutation of the c-MPL gene, 
whichcauses familial essential thrombocythemia, induces autonomous 
homodimerization ofthe c-Mpl protein due to strong amino acid polarity. Blood. 2009 
Oct8;114(15):3325-8. doi: 10.1182/blood-2008-04-149047. Epub 2009 May 29. 

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Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/)
4
Citation on PubMed (https://pubmed.ncbi.nlm.nih.gov/19483125) 
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Germeshausen M, Ballmaier M, Welte K. MPL mutations in 23 patients 
sufferingfrom congenital amegakaryocytic thrombocytopenia: the type of mutation 
predictsthe course of the disease. Hum Mutat. 2006 Mar;27(3):296. Citation on 
PubMed (https://pubmed.ncbi.nlm.nih.gov/16470591) 
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Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, 
Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M,
Gilliland DG, Levine RL. MPLW515L is a novel somatic activating mutation 
inmyelofibrosis with myeloid metaplasia. PLoS Med. 2006 Jul;3(7):e270. Citation on 
PubMed (https://pubmed.ncbi.nlm.nih.gov/16834459) or Free article on PubMed 
Central (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502153/) 
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Tefferi A. Novel mutations and their functional and clinical relevance 
inmyeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.
Leukemia. 2010 Jun;24(6):1128-38. doi: 10.1038/leu.2010.69. Epub 2010 Apr 29.
Review. Citation on PubMed (https://pubmed.ncbi.nlm.nih.gov/20428194) or Free 
article on PubMed Central (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035972/) 
Genomic Location
The MPL gene is found on chromosome 1 (https://medlineplus.gov/genetics/chromosom
e/1/).
Page last updated on 18 August 2020 
Page last reviewed: 1 September 2014