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 Response to elevated platelet cytosolic Ca2+ and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and thrombopoietin receptor activity.
UniProtKB/Swiss-Prot for MPL Gene
-
Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune responses.
Additional gene information for MPL Gene
- Monarch Initiative
- Search for MPL at DataMed
- Search for MPL at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPL Gene
Genomics for MPL Gene
GeneHancer (GH) Regulatory Elements for MPL Gene
Promoters and enhancers for MPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MPL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MPL gene promoter:
Regulatory Element Products
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)
Genomic View for MPL Gene
Genes around MPL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p34.2 by Ensembl
- 1p34.2 by Entrez Gene
- 1p34.2 by HGNC
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.
- Ubiquitination at isoforms=553 and isoforms=573
- Glycosylation at Asn117, isoforms=2178, isoforms=2298, and isoforms=2358
- Modification sites at PhosphoSitePlus
Other Protein References for MPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for MPL (Thrombopoietin R/Tpo R)
-
Custom Antibody ServicesOriGene Antibodies for MPL
- Novus Biologicals Antibodies for MPL
-
Abcam antibodies for MPL
-
Cloud-Clone Corp. Antibodies for MPL
- Invitrogen Antibodies for MPL
- antibodies-online: Search results for 66 available MPL Antibodies ranked by validation data
- Compare Top MPL Antibodies
-
Recommended
- 1 FACS Antibody (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 4 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 10 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-human)
- 5 FACS Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 30 WB Antibodies (anti-human)
- 1 FACS Antibody (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 4 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 10 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-human)
- 5 FACS Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 30 WB Antibodies (anti-human)
- Search GeneTex for Antibodies for MPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for MPL
Protein Products
- R&D Systems Proteins and Enzymes for MPL (Thrombopoietin R/Tpo R)
-
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 Recombinant Proteins for MPL
- Sino Biological Cell Lysates for MPL
-
Cloud-Clone Corp. Proteins for MPL
- Search GeneTex for Proteins for MPL
-
Abcam proteins for MPL
Assay Products
-
Cloud-Clone Corp. Assay 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 membrane proteins
Protein Domains for MPL Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MPL Gene
- GenScript: Design optimal peptide antigens:
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
- GENATLAS Biochemistry:
- myeloproliferative leukemia virus oncogene homolog,hematopoietic growth factor receptor superfamily
- UniProtKB/Swiss-Prot Function:
- Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune responses.
Phenotypes From GWAS Catalog for MPL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | TAS | 8020956 |
| GO:0004896 | cytokine receptor activity | IEA | -- |
| GO:0005515 | protein binding | 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:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MPL
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MPL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MPL gene
- Search ViGene Biosciences for MPL
CRISPR Products
-
OriGene CRISPR knockouts for MPL
- genomics-online: gRNA clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
- Applied Biological Materials CRISPR for MPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MPL
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for MPL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MPL
- Browse OriGene Inhibitory RNA Products For MPL
- genomics-online: shRNA clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for MPL gene
Clone Products
- Sino Biological Human cDNA Clone for MPL
- VectorBuilder custom plasmid, inducible vectors for MPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MPL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MPL
- genomics-online: cdna clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
- orf clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
- Applied Biological Materials Clones for MPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for MPL (Thrombopoietin R/Tpo R)
Cell Line Products
-
Horizon Cell Lines for MPL
-
ViGene Biosciences adenoviral particle packaged cDNA for MPL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MPL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MPL gene
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 |
| extracellular | 3 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IEA,IDA | 25538044 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 8020956 |
| GO:0009986 | cell surface | IEA,IDA | 25538044 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MPL Gene
Pathways & Interactions for MPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 2 | PEDF Induced Signaling | ||
| 3 | Jak-STAT signaling pathway (KEGG) | ||
| 4 | NF-kappaB Signaling | ||
| 5 | Hematopoietic Stem Cell Differentiation Pathways 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
1 R&D Systems pathway for MPL Gene
2 Qiagen pathways for MPL Gene
1 Cell Signaling Technology pathway for MPL Gene
Interacting Proteins for MPL Gene
Selected Interacting proteins:
P40238-TPOR_HUMAN
ENSP00000361548
for MPL Gene via
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007166 | cell surface receptor signaling pathway | TAS | 8020956 |
| GO:0008283 | cell proliferation | TAS | 8020956 |
| GO:0019221 | cytokine-mediated signaling pathway | IEA | -- |
| GO:0038163 | thrombopoietin-mediated signaling pathway | 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 | ||
| SB-559448 | Investigational | Pharma | Target, agonist | 0 | ||
| thrombopoietin | Pharma | Agonist, agonist | 0 | |||
| Eltrombopag Olamine | Pharma | C-mpl 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
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (4) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MPL Gene
CRISPR Products
-
OriGene CRISPR knockouts for MPL
- genomics-online: gRNA clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
- Applied Biological Materials CRISPR for MPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MPL
- GenScript: Design CRISPR guide RNA sequences for MPL
miRNA Products
- Search ViGene Biosciences for MPL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MPL
- Browse OriGene Inhibitory RNA Products For MPL
- genomics-online: shRNA clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for MPL gene
Clone Products
- Sino Biological Human cDNA Clone for MPL
- VectorBuilder custom plasmid, inducible vectors for MPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MPL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MPL
- genomics-online: cdna clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
- orf clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
- Applied Biological Materials Clones for MPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for MPL (Thrombopoietin R/Tpo R)
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: |
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
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Hematopoietic Stem Cells Liver Bud
- Megakaryocyte-Erythroid Precursor 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
- NULL (Uncategorized)
- Eye (Sensory Organs)
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, PaxDb, and MOPED for MPL Gene
NURSA nuclear receptor signaling pathways regulating expression of MPL Gene:
MPLSOURCE 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)
- 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
Primer Products
-
OriGene qPCR primer pairs for MPL
- genomics-online: primer clones - Search results for 102 available MPL gene related products
- Overview of 102 available MPL gene related products
-
Recommended
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 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Mpl 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mpl 33 |
|
||
| dog (Canis familiaris) |
Mammalia | MPL 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MPL 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MPL 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | MPL 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | mpl 33 34 |
|
- 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)
Paralogs for MPL Gene
No data available for Paralogs for MPL Gene
Variants for MPL Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1006158872 | amegakaryocytic thrombocytopenia (CAMT) [MIM:604498] | 43,346,931(+) | G/C | coding_sequence_variant, missense_variant | |
| rs1057519752 | uncertain-significance, likely-pathogenic, not specified, Myeloproliferative Neoplasm | 43,349,307(+) | A/C/G/T | coding_sequence_variant, missense_variant | |
| rs115780311 | likely-benign, uncertain-significance, Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia | 43,354,278(+) | G/A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs117166528 | likely-benign, Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia | 43,353,952(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs121913610 | pathogenic, Congenital amegakaryocytic thrombocytopenia | 43,339,435(+) | C/A/G/T | coding_sequence_variant, missense_variant, stop_gained |
| 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
(34) MalaCards diseases for MPL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myelofibrosis |
|
|
| amegakaryocytic thrombocytopenia, congenital |
|
|
| thrombocythemia 2 |
|
|
| polycythemia vera |
|
|
| essential thrombocythemia |
|
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.
- 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.
- 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.
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
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 22 44 58
- 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 22 44 58
- 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 22 58
- MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. (PMID: 16834459) Pikman Y … Levine RL (PLoS medicine 2006) 3 4 22 58
- MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. (PMID: 16868251) Pardanani AD … Tefferi A (Blood 2006) 3 4 44 58
Products for MPL Gene
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- Mammalian expression: PiggyBac
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Sources for MPL Gene
- (1) GeneCards
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