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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
External Ids for MPL Gene
- HGNC: 7217
- Entrez Gene: 4352
- Ensembl: ENSG00000117400
- OMIM: 159530
- UniProtKB: P40238
Previous GeneCards Identifiers for MPL Gene
- GC01P043746
- GC01P042803
- GC01P043233
- GC01P043216
- GC01P043472
- GC01P043576
- GC01P043803
- GC01P041923
Summaries 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]
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 PEDF Induced Signaling and Hematopoietic Stem Cells and Lineage-specific Markers. 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.
Additional gene information for MPL Gene
- HGNC(7217)
- Entrez Gene(4352)
- Ensembl(ENSG00000117400)
- OMIM(159530)
- UniProtKB(P40238)
- Open Targets Platform(ENSG00000117400)
- Monarch Initiative
- Search for MPL at DataMed
- Search for MPL at HumanCyc
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 Pubs
Promoters and enhancers for MPL Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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
- chr1:43,336,875-43,354,466
- (GRCh38/hg38)
- Size:
- 17,592 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:
-
- 1p34.2 by HGNC
- 1p34.2 by Entrez Gene
- 1p34.2 by Ensembl
MPL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MPL Gene
Proteins for MPL Gene
-
Protein details for MPL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P40238-TPOR_HUMAN
- Recommended name:
- Thrombopoietin receptor
- Protein Accession:
- P40238
- Q5JUZ0
Protein attributes for MPL Gene
- Size:
- 635 amino acids
- Molecular mass:
- 71245 Da
- Quaternary structure:
-
- Homodimer (PubMed:25538044). Interacts with ATXN2L.
Protein Expression for MPL Gene
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
- NX_P40238 (NX_P40238-1)
-
Ubiquitination at Lys553 and Lys573
- NX_P40238 (NX_P40238-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- TPOR_HUMAN (1803)
Other Protein References for MPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- HUABIO Anti-MPL Antibody
-
BioLegend
- CD110 Antibody (393704)
- CD110 Antibody (393804)
- CD110 Antibody (393803)
- CD110 Antibody (393703)
- CD110 Antibody (393701)
- CD110 Antibody (393702)
- CD110 Antibody (393801)
- CD110 Antibody (393802)
- CD110 Antibody (393714)
- CD110 Antibody (393713)
- PerCP/Cyanine5.5 CD110 Antibody (393712)
- PerCP/Cyanine5.5 CD110 Antibody (393711)
- CD110 Antibody (393710)
- CD110 Antibody (393810)
- CD110 Antibody (393811)
- CD110 Antibody (393812)
- CD110 Antibody (393806)
- CD110 Antibody (393708)
- CD110 Antibody (393709)
- CD110 Antibody (393705)
- CD110 Antibody (393706)
- CD110 Antibody (393707)
- CD110 Antibody (393809)
- CD110 Antibody (393808)
- CD110 Antibody (393807)
- CD110 Antibody (393805)
-
Custom Antibody ServicesOriGene Antibodies for MPL
- Novus Biologicals Antibodies for MPL
-
Abcam antibodies for MPL
- Invitrogen Antibodies for MPL (AFLGC-MPL)
- antibodies-online: Show 18 available MPL Antibodies ranked by validation data
- Compare Top MPL Antibodies
-
Recommended
- 36 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 6 FACS Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 24 IF (p) Antibodies (anti-mouse)
- 16 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 24 IF (p) Antibodies (anti-rat)
- 8 WB Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
-
Boster Bio Antibodies for MPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for MPL
Protein Products
-
OriGene Purified Proteins for MPL
- Search Origene for MassSpec and Protein Over-expression Lysates for MPL
- Origene Custom Protein Services for MPL
- Novus Biologicals lysates for MPL
- Sino Biological Cell Lysates for MPL
- Sino Biological Recombinant Proteins for MPL
- antibodies-online: Show 15 available MPL Proteins ranked by validation data
- Compare Top MPL Proteins
-
Abcam proteins for MPL
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for MPL
- antibodies-online: Show 6 available MPL Elisa Kits ranked by validation data
- Compare Top MPL Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits 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
P40238UniProtKB/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.
Function for MPL Gene
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
| 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 |
Phenotypes for MPL Gene
- MGI mutant phenotypes for MPL:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for MPL:
-
- no effect
- Dynamic nuclei (hole, folded or small irregular)
- Synthetic lethal with Ras
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased shRNA abundance (Z-score < -2)
Animal Models for MPL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MPL - Select products 50% OFF >
- * MPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for MPL
miRNA for MPL Gene
- miRTarBase miRNAs that target MPL
-
- hsa-miR-28-5p (MIRT006402)
- hsa-let-7c-5p (MIRT006403)
- hsa-let-7e-5p (MIRT006404)
- hsa-let-7a-5p (MIRT006405)
- hsa-let-7d-5p (MIRT006406)
- hsa-let-7f-5p (MIRT006407)
- hsa-miR-98-5p (MIRT006408)
- hsa-miR-151a-5p (MIRT006409)
- hsa-miR-708-3p (MIRT006410)
- hsa-miR-1-3p (MIRT437822)
- hsa-miR-6516-5p (MIRT455831)
- hsa-miR-455-3p (MIRT455832)
- hsa-miR-7847-3p (MIRT455833)
- hsa-miR-6880-5p (MIRT455834)
- hsa-miR-6499-3p (MIRT455835)
- hsa-miR-6086 (MIRT455836)
- hsa-miR-377-5p (MIRT455837)
- hsa-miR-6134 (MIRT455838)
- hsa-miR-4487 (MIRT455839)
- hsa-miR-558 (MIRT455840)
- hsa-miR-3160-3p (MIRT455841)
- hsa-miR-6851-5p (MIRT550700)
- hsa-miR-3689d (MIRT550701)
- hsa-miR-1247-3p (MIRT692901)
- hsa-miR-4257 (MIRT692902)
- hsa-miR-135b-5p (MIRT692903)
- hsa-miR-135a-5p (MIRT692904)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MPL
- Browse OriGene Inhibitory RNA Products For MPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPL
Clone Products
- Applied Biological Materials (abm): Clones for MPL - Select products 50% OFF >
- * MPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MPL
- Addgene plasmids for MPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MPL
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Plasma membrane (3)
- Nuclear membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IEA,IDA | 25538044 |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0009986 | cell surface | IEA,IDA | 25538044 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for MPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 2 | NF-kappaB Signaling | ||
| 3 | PEDF Induced Signaling | ||
| 4 | JAK-STAT signaling pathway | ||
| 5 | Hematopoietic Stem Cells and Lineage-specific Markers | ||
Pathways by source for MPL Gene
3 Reactome pathways for MPL Gene
2 KEGG pathways for MPL Gene
2 GeneGo (Thomson Reuters) pathways for MPL Gene
- Development Thrombopoietin-regulated cell processes
- Development_Thrombopoetin signaling via JAK-STAT pathway
1 R&D Systems pathway for MPL Gene
2 Qiagen pathways for MPL Gene
- JAK-STAT Pathway
- Thrombopoietin Pathway
1 Cell Signaling Technology pathway for MPL Gene
Interacting Proteins for MPL Gene
Selected Interacting proteins:
P40238-TPOR_HUMAN
ENSP00000361548
for MPL Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MPL
| 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 | -- |
Drugs & Compounds for MPL Gene
| 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 |
| 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 |
Transcripts for MPL Gene
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 :
-
- ENST00000372470 3633 nts (view in UCSC)
- ENST00000413998 1887 nts (view in UCSC)
- ENST00000638732 1743 nts (view in UCSC)
- ENST00000643351 530 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MPL - Select products 50% OFF >
- * MPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for MPL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MPL
- Browse OriGene Inhibitory RNA Products For MPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPL
Clone Products
- Applied Biological Materials (abm): Clones for MPL - Select products 50% OFF >
- * MPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MPL
- Addgene plasmids for MPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MPL
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Megakaryocytes Hematopoietic Bone Marrow
- Megakaryocyte-Erythroid Precursor Cells Hematopoietic Bone Marrow
- Hematopoietic Stem Cells Liver Bud
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
- Hematopoietic Stem Cells Liver Bud
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
- Eye (Sensory Organs)
- NULL (Uncategorized)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPL
SOURCE GeneReport for Unigene cluster for MPL Gene:
Hs.82906mRNA 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(3.2)
- Bone marrow(3)
- Spleen(2.3)
- Liver(2.3)
- Kidney(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for MPL
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | MPL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mpl 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mpl 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | MPL 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MPL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MPL 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MPL 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | mpl 30 31 |
|
OneToOne |
- Species where no ortholog for MPL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for MPL Gene
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: Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia | 43,338,633(+) | C/T | MISSENSE_VARIANT | |
| 653595 | Likely Pathogenic: Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia | 43,338,640(+) | T/C | MISSENSE_VARIANT | |
| 656664 | Pathogenic: Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia | 43,348,996(+) | G/T | NONSENSE |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3585866 | CNV | loss | 21293372 |
| nsv546128 | CNV | loss | 21841781 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPL Gene
Disorders for MPL Gene
(48) MalaCards diseases for MPL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myelofibrosis |
|
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| amegakaryocytic thrombocytopenia, congenital |
|
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| thrombocythemia 2 |
|
|
| essential thrombocythemia |
|
|
| myeloproliferative neoplasm |
|
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
- Open Targets Platform
No data available for Genatlas for MPL Gene
Publications for MPL Gene
- 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
- 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
- JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. (PMID: 19643476) Siemiatkowska A … Limon J (Leukemia research 2010) 3 23 41
- 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
- Mutations in the JAK2 and MPL genes and their correlation to clinical parameters in patients with chronic myeloproliferative disease. (PMID: 19372714) Bojko P … Haferlach T (Onkologie 2009) 3 23 41
ExternalLinks
Products for MPL Gene
- View all 8 R&D Systems MPL (Thrombopoietin R/Tpo R) Products
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Sources for MPL Gene
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