Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4352
Gene name Gene Name - the full gene name approved by the HGNC.
MPL proto-oncogene, thrombopoietin receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MPL
Synonyms (NCBI Gene) Gene synonyms aliases
C-MPL, CD110, MPLV, THCYT2, THPOR, TPOR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
THCYT2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 re
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17292650 G>T Benign, not-provided, likely-benign, risk-factor Coding sequence variant, missense variant
rs28928907 G>A,C Pathogenic, not-provided Coding sequence variant, missense variant
rs28928908 C>A,T Pathogenic Coding sequence variant, missense variant
rs41269541 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign Intron variant
rs121913610 C>A,G,T Pathogenic Stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006402 hsa-miR-28-5p Luciferase reporter assay, qRT-PCR, Western blot 20445018
MIRT006402 hsa-miR-28-5p Luciferase reporter assay, qRT-PCR, Western blot 20445018
MIRT006402 hsa-miR-28-5p Luciferase reporter assay, qRT-PCR, Western blot 20445018
MIRT006403 hsa-let-7c-5p Luciferase reporter assay 20445018
MIRT006404 hsa-let-7e-5p Luciferase reporter assay 20445018
Transcription factors
Transcription factor Regulation Reference
FLI1 Activation 15466856
GATA1 Activation 15466856
RUNX1 Unknown 18687690
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001780 Process Neutrophil homeostasis IEA
GO:0005515 Function Protein binding IPI 24931576
GO:0005794 Component Golgi apparatus IDA 25538044
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
159530 7217 ENSG00000117400
Protein
UniProt ID P40238
Protein name Thrombopoietin receptor (TPO-R) (Myeloproliferative leukemia protein) (Proto-oncogene c-Mpl) (CD antigen CD110)
Protein function Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites fo
PDB 8G04
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09067 EpoR_lig-bind 25 128 Erythropoietin receptor, ligand binding Domain
PF00041 fn3 391 475 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at a low level in a large number of cells of hematopoietic origin. Isoform 1 and isoform 2 are always found to be coexpressed.
Sequence
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPS
GTYQLLYAYPREKPRACPLSSQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTR
TQRVLFVD
SVGLPAPPSIIKAMGGSQPGELQISWEEPAPEISDFLRYELRYGPRDPKNST
GPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVT
CQWQQQDHASSQGFFYHSRARCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDS
IIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWREISSGHLELEWQHPSSWAAQE
TCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWS
SWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLG
QYLRDTAALSPPKATVSDTCEEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLG
TMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP
Sequence length 635
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytokine-cytokine receptor interaction
Hormone signaling
JAK-STAT signaling pathway
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia rs121913610, rs121913611, rs121913612, rs28928907, rs587778514, rs146249964, rs750046020, rs587778515, rs148434485, rs770457041, rs1553128241, rs760797899, rs1343123940, rs754859909, rs755257605
View all (5 more)
28859041, 16470591, 24728327, 19302922, 21489838, 25538044, 11133753, 18240171, 24438083, 27418648, 18422784, 18024606, 19036112, 21659346, 10971406
View all (5 more)
Hemangioma Hemangioma rs121917766
Hypertension Hypertensive disease rs13306026
Unknown
Disease term Disease name Evidence References Source
Budd-chiari syndrome Budd-Chiari Syndrome ClinVar
Myocardial infarction Myocardial Infarction ClinVar
Congenital Amegakaryocytic Thrombocytopenia congenital amegakaryocytic thrombocytopenia 1, congenital amegakaryocytic thrombocytopenia GenCC
Thrombocytosis familial thrombocytosis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Absent radii and thrombocytopenia Associate 10688818, 9827898
Acute erythroleukemia Associate 19097174, 9753066
Anemia Aplastic Associate 16219544, 22180433, 24085763, 27418648
Anemia Hemolytic Associate 17408465
Anemia Refractory Associate 19692701
Anemia Refractory with Excess of Blasts Associate 10089900
Angina Unstable Inhibit 17161245
Ataxia Telangiectasia Associate 20334914
Bernard Soulier Syndrome Associate 34553764
Blood Coagulation Disorders Associate 29215956