MPL Gene (Protein Coding)

MPL Proto-Oncogene, Thrombopoietin Receptor

GC01P043337
GIFtS:
50
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 a... See more...

Aliases for MPL Gene

Aliases for MPL Gene

  • MPL Proto-Oncogene, Thrombopoietin Receptor 2 3 5
  • Myeloproliferative Leukemia Virus Oncogene 2 3
  • Myeloproliferative Leukemia Protein 3 4
  • Thrombopoietin Receptor 3 4
  • Proto-Oncogene C-Mpl 3 4
  • TPO-R 3 4
  • TPOR 3 4
  • CD110 Antigen 4
  • THCYT2 3
  • C-MPL 3
  • CD110 3
  • THPOR 3
  • MPLV 3

External Ids for MPL Gene

Previous GeneCards Identifiers for MPL Gene

  • GC01P043746
  • GC01P042803
  • GC01P043233
  • GC01P043216
  • GC01P043472
  • GC01P043576
  • GC01P043803
  • GC01P041923

Summaries for MPL Gene

Entrez Gene Summary for MPL 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 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]

CIViC Summary for MPL Gene

GeneCards Summary for MPL Gene

MPL (MPL Proto-Oncogene, Thrombopoietin Receptor) is a Protein Coding gene. Diseases associated with MPL include Myelofibrosis and Amegakaryocytic Thrombocytopenia, Congenital. Among its related pathways are JAK-STAT signaling pathway (KEGG) and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and thrombopoietin receptor activity. An important paralog of this gene is EPOR.

UniProtKB/Swiss-Prot Summary for MPL Gene

  • Receptor for thrombopoietin that acts as a primary regulator of megakaryopoiesis and platelet production. May represent a regulatory molecule specific for TPO-R-dependent immune responses.

Gene Wiki entry for MPL Gene

Additional gene information for MPL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPL Gene

Genomics for MPL Gene

GeneHancer (GH) Regulatory Elements for MPL Gene

Promoters and enhancers for MPL Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J043337 Promoter 0.3 EPDnew 500.7 +0.4 395 0.1 MPL ENSG00000287113
GH01J043338 Enhancer 0.2 Ensembl 500.7 +1.0 983 0.8 MPL ENSG00000287113
GH01J043365 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +30.0 30035 4.7 HNRNPK CTCF SIN3A NRF1 POLR2G GTF2E2 PHF8 ZFX ZNF639 ZNF10 ELOVL1 lnc-CDC20-2 lnc-MED8-1 MED8 MPL SZT2 HYI MIR6734
GH01J043452 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +116.9 116934 4.5 USF1 SP1 ZFX ZIC2 POLR2A ZBTB10 ZNF423 ZBTB26 CHD1 NFYB HYI HYI-AS1 lnc-MED8-4 MED8 DMAP1 MPL PTPRF SZT2 ENSG00000229431 KDM4A-AS1
GH01J043283 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.3 -52.1 -52121 3.2 ZNF217 CTCF ZBTB26 HDAC2 SIN3A FOXA2 POLR2A FOS TCF12 GABPB1 C1orf210 CFAP57 SZT2 MPL ENSG00000229431 MED8 ENSG00000234694 CDC20 ELOVL1 TMEM125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPL

Top Transcription factor binding sites by QIAGEN in the MPL gene promoter:
  • AML1a
  • STAT3

Genomic Locations for MPL Gene

Genomic Locations for MPL Gene
chr1:43,337,418-43,354,464
(GRCh38/hg38)
Size:
17,047 bases
Orientation:
Plus strand
chr1:43,803,475-43,820,135
(GRCh37/hg19)
Size:
16,661 bases
Orientation:
Plus strand

Genomic View for MPL Gene

Genes around MPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPL Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MPL Gene

Proteins for MPL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40238-TPOR_HUMAN
    Recommended name:
    Thrombopoietin receptor
    Protein Accession:
    P40238
    Secondary Accessions:
    • Q5JUZ0

    Protein attributes for MPL Gene

    Size:
    635 amino acids
    Molecular mass:
    71245 Da
    Quaternary structure:
    • Homodimer (PubMed:25538044). Interacts with ATXN2L.

    Alternative splice isoforms for MPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPL Gene

Protein Expression for MPL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MPL Gene

  • Ubiquitination at Lys-553 and Lys-573 targets MPL for degradation by both the lysosomal and proteasomal pathways. The E3 ubiquitin-protein ligase CBL significantly contributes to this ubiquitination.
  • Glycosylation at Asn117, Asn178, Asn298, and Asn358
  • Ubiquitination at Lys553 and Lys573
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for MPL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MPL
  • Santa Cruz Biotechnology (SCBT) Antibodies for MPL

No data available for DME Specific Peptides for MPL Gene

Domains & Families for MPL Gene

Gene Families for MPL Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MPL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MPL Gene

GenScript: Design optimal peptide antigens:
  • Proto-oncogene c-Mpl (TPOR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40238

UniProtKB/Swiss-Prot:

TPOR_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 1 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 1 subfamily.
genes like me logo Genes that share domains with MPL: view

Function for MPL Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MPL Gene

UniProtKB/Swiss-Prot Function:
Receptor for thrombopoietin that acts as a primary regulator of megakaryopoiesis and platelet production. May represent a regulatory molecule specific for TPO-R-dependent immune responses.
GENATLAS Biochemistry:
myeloproliferative leukemia virus oncogene homolog,hematopoietic growth factor receptor superfamily

Phenotypes From GWAS Catalog for MPL Gene

Gene Ontology (GO) - Molecular Function for MPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
GO:0005515 protein binding IEA,IPI 24931576
GO:0038164 thrombopoietin receptor activity IMP 25538044
genes like me logo Genes that share ontologies with MPL: view
genes like me logo Genes that share phenotypes with MPL: view

Human Phenotype Ontology for MPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPL Gene

MGI Knock Outs for MPL:
  • Mpl Mpl<tm1Wsa>
  • Mpl Mpl<tm1Mwm>
  • Mpl Mpl<tm1Fjs>
  • Mpl Mpl<tm2.2Wsa>

Animal Model Products

Clone Products

  • Addgene plasmids for MPL

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MPL Gene

Localization for MPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPL Gene

Cell membrane; Single-pass type I membrane protein. Golgi apparatus. Cell surface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPL gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
nucleus 4
extracellular 3
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
mitochondrion 1
endosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,IDA 25538044
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IEA,IDA 25538044
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPL: view

Pathways & Interactions for MPL Gene

genes like me logo Genes that share pathways with MPL: view

Pathways by source for MPL Gene

2 GeneGo (Thomson Reuters) pathways for MPL Gene
  • Development Thrombopoietin-regulated cell processes
  • Development_Thrombopoetin signaling via JAK-STAT pathway
2 Qiagen pathways for MPL Gene
  • JAK-STAT Pathway
  • Thrombopoietin Pathway
1 Cell Signaling Technology pathway for MPL Gene

SIGNOR curated interactions for MPL Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001780 neutrophil homeostasis IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0035702 monocyte homeostasis IEA --
GO:0038163 thrombopoietin-mediated signaling pathway IEA --
GO:0050671 positive regulation of lymphocyte proliferation IEA --
genes like me logo Genes that share ontologies with MPL: view

Drugs & Compounds for MPL Gene

Products:

  1. Drug

(20) Drugs for MPL Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eltrombopag Approved Pharma Target, agonist 0
Romiplostim Approved Pharma Target, agonist, inhibitor 0
avatrombopag Approved, Investigational Pharma Target, agonist 0
lusutrombopag Approved, Investigational Pharma Target, agonist 0
Thrombopoietin Investigational Pharma Agonist, Target, agonist 0

(10) Additional Compounds for MPL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for MPL Gene

Compound Action Cas Number
Eltrombopag 496775-61-2
Eltrombopag Olamine C-mpl agonist 496775-62-3
genes like me logo Genes that share compounds with MPL: view

Drug Products

Transcripts for MPL Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MPL Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for MPL

Alternative Splicing Database (ASD) splice patterns (SP) for MPL Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: -
SP2: - -
SP3:

Relevant External Links for MPL Gene

GeneLoc Exon Structure for
MPL

Expression for MPL Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MPL Gene

mRNA expression in normal human tissues for MPL Gene
mRNA expression by BioGPS for MPL GenemRNA expression by GTEx for MPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MPL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.6), Heart (23.0), and Platelet (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MPL Gene



Protein tissue co-expression partners for MPL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPL

SOURCE GeneReport for Unigene cluster for MPL Gene:

Hs.82906

mRNA Expression by UniProt/SwissProt for MPL Gene:

P40238-TPOR_HUMAN
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.

Evidence on tissue expression from TISSUES for MPL Gene

  • Blood(3)
  • Bone marrow(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MPL: view

No data available for mRNA differential expression in normal tissues for MPL Gene

Orthologs for MPL Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia MPL 31 30
  • 86.78 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mpl 17 31 30
  • 85.15 (n)
rat
(Rattus norvegicus)
 Mammalia Mpl 30
  • 84.38 (n)
dog
(Canis familiaris)
 Mammalia MPL 31
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MPL 31
  • 48 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MPL 31 30
  • 52.94 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MPL 31
  • 30 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii mpl 31 30
  • 41.17 (n)
 OneToOne
Species where no ortholog for MPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPL Gene

ENSEMBL:
Gene Tree for MPL (if available)
TreeFam:
Gene Tree for MPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPL: view image

Paralogs for MPL Gene

Paralogs for MPL Gene

genes like me logo Genes that share paralogs with MPL: view

Variants for MPL Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
14155 Pathogenic: Congenital amegakaryocytic thrombocytopenia 43,349,292(+) CT/C FRAMESHIFT_VARIANT
14160 Pathogenic: Congenital amegakaryocytic thrombocytopenia 43,352,215(+) G/T SPLICE_ACCEPTOR_VARIANT
644406 Pathogenic: essential thrombocytemia; Congenital amegakaryocytic thrombocytopenia 43,338,633(+) C/T MISSENSE_VARIANT
653595 Uncertain Significance: essential thrombocytemia; Congenital amegakaryocytic thrombocytopenia 43,338,640(+) T/C MISSENSE_VARIANT
656664 Pathogenic: essential thrombocytemia; Congenital amegakaryocytic thrombocytopenia 43,348,996(+) G/T NONSENSE

Additional dbSNP identifiers (rs#s) for MPL Gene

Structural Variations from Database of Genomic Variants (DGV) for MPL Gene

Variant ID Type Subtype PubMed ID
esv3585866 CNV loss 21293372
nsv546128 CNV loss 21841781

Variation tolerance for MPL Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPL Gene

Human Gene Mutation Database (HGMD)
MPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPL Gene

Disorders for MPL Gene

MalaCards: The human disease database

(47) MalaCards diseases for MPL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myelofibrosis
  • myelofibrosis with myeloid metaplasia, somatic
amegakaryocytic thrombocytopenia, congenital
  • camt
thrombocythemia 2
  • thcyt2
essential thrombocythemia
  • essential thrombocythaemia
myeloproliferative neoplasm
  • campomelic dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search MPL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPOR_HUMAN
  • Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. {ECO:0000269 PubMed:16470591, ECO:0000269 PubMed:25538044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thrombocythemia 2 (THCYT2) [MIM:601977]: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. {ECO:0000269 PubMed:14764528, ECO:0000269 PubMed:19483125, ECO:0000269 PubMed:23441089, ECO:0000269 PubMed:25538044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]: A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. {ECO:0000269 PubMed:16834459, ECO:0000269 PubMed:16868251}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MPL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPL: view

No data available for Genatlas for MPL Gene

Publications for MPL Gene

  1. Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. (PMID: 15269348) Moliterno AR … Spivak JL (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 23 41 54
  2. Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets. (PMID: 20113333) Glembotsky AC … Heller PG (European journal of haematology 2010) 3 23 41 54
  3. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. (PMID: 19483125) Ding J … Ueda R (Blood 2009) 3 4 23 54
  4. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. (PMID: 16834459) Pikman Y … Levine RL (PLoS medicine 2006) 3 4 23 54
  5. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. (PMID: 16868251) Pardanani AD … Tefferi A (Blood 2006) 3 4 41 54

ExternalLinks

View latest publications for MPL gene in Mastermind

Products for MPL Gene

  • Addgene plasmids for MPL

Sources for MPL Gene