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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MPL Gene

protein-coding GIFtS: 66
GCID: GC01P043803

myeloproliferative leukemia virus oncogene

Explore 49 diseases affiliated with
MPL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myeloproliferative Leukemia Virus Oncogene¹ ²		MPLV² ⁵
TPOR¹ ² ³ ⁵		C-MPL²
CD110¹ ²		THCYT2²
Myeloproliferative Leukemia Protein² ³		Thrombopoietin Receptor²
Proto-Oncogene C-Mpl² ³		CD110 Antigen³
TPO-R² ³

External Ids:	HGNC: 7217¹	Entrez Gene: 4352²	Ensembl: ENSG00000117400⁷	OMIM: 159530⁵	UniProtKB: P40238³

Export aliases for MPL gene to outside databases

Previous GC identifers: GC01P043746 GC01P042803 GC01P043233 GC01P043216 GC01P043472 GC01P043576 GC01P041923

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MPL:

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)

UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238

Function: Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune

responses

Gene Wiki entry for MPL (Thrombopoietin receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MPL gene promoter:
AML1a STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MPL promoter sequence

Search SABiosciences Chromatin IP Primers for MPL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34 Ensembl cytogenetic band: 1p34.2 HGNC cytogenetic band: 1p34

MPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPL gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P043803: view genomic region (about GC identifiers)

Start:	43,803,475 bp from pter	End:	43,820,135 bp from pter
Size:	16,661 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238 (See protein sequence)

Recommended Name: Thrombopoietin receptor precursor

Size: 635 amino acids; 71245 Da

Subunit: Interacts with ATXN2L

Subcellular location: Membrane; Single-pass type I membrane protein

Caution: It is uncertain whether Met-1 or Met-8 is the initiator

Secondary accessions: Q5JUZ0

Alternative splicing: 2 isoforms: P40238-1 P40238-2

Explore the universe of human proteins at neXtProt for MPL: NX_P40238

Post-translational modifications:

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 ubiquitination¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P40238

MPL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005364.1

ENSEMBL proteins:

ENSP00000361548 ENSP00000414004

Reactome Protein details: P40238
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for MPL (Thrombopoietin R/Tpo R)
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: MPL OriGene Custom Protein Services for MPL
	GenScript Custom Purified and Recombinant Proteins Services for MPL
	Novus Biologicals MPL Proteins Novus Biologicals MPL Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MPL

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	8020956
GO:0016020	membrane	--	--

MPL for ontologies About GeneDecksing

MPL Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of MPL
	R&D Systems Antibodies for MPL (Thrombopoietin R/Tpo R)
	OriGene Antibodies: MPL OriGene Custom Antibody Services for MPL
	GenScript Superior Antibodies for MPL
	Novus Biologicals MPL Antibodies
	Abcam antibodies for MPL
	Uscn Antibodies for MPL
	Search ThermoFisher Antibodies for MPL

Assay Products for MPL:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MPL
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MPL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MPL for domains About GeneDecksing

4 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR015152 Growth/epo_recpt_lig-bind

IPR003528 Long_hematopoietin_rcpt_CS

Graphical View of Domain Structure for InterPro Entry P40238

ProtoNet protein and cluster: P40238

UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

Similarity: Belongs to the type I cytokine receptor family. Type 1 subfamily

Similarity: Contains 2 fibronectin type-III domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238

Function: Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune

responses

Genatlas biochemistry entry for MPL:

myeloproliferative leukemia virus oncogene homolog,hematopoietic growth factor receptor superfamily

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPL
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MPL (see all 16):
		hsa-miR-30c hsa-miR-767-5p hsa-miR-501-3p hsa-miR-30d hsa-miR-502-3p hsa-miR-30a hsa-miR-28-5p hsa-miR-1252

		SwitchGear 3'UTR luciferase reporter plasmid: MPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPL (see all 4) OriGene shRNA RFP: MPL OriGene siRNA: MPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MPL

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPL OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MPL (NM_005373)
		Sino Biological Human cDNA Clone for MPL
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MPL
		Search LifeMap BioReagents cell lines for MPL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPL

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004888	transmembrane signaling receptor activity	TAS	8020956
GO:0004896	cytokine receptor activity	IEA	--

MPL for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for MPL:

Decreased viability

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for MPL: Mpl^tm1Mwm Mpl^tm1Fjs Mpl^tm1Wsa
7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Mpl):

cellular	embryogenesis	growth/size	hematopoietic system	homeostasis/metabolism
immune system	mortality/aging

MPL for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Development Thrombopoetin signaling via JAK-STAT pathway

Development Thrombopoetin signaling via JAK-STAT pathway

1.00

Development_Thrombopoetin signaling via JAK-STAT pathway

1.00

IL-9 Signaling Pathways

Development Thrombopoietin-regulated cell processes

0.36

Development_Thrombopoietin-regulated cell processes

0.36

Jak-STAT signaling pathway

Jak-STAT signaling pathway

1.00

Integrin alphaIIb beta3 signaling

Platelet Aggregation (Plug Formation)

0.73

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for MPL

	Development Thrombopoietin-regulated cell processes
	Development Thrombopoetin signaling via JAK-STAT pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MPL

	JAK-STAT Pathway
	Thrombopoietin Pathway

2 GeneGo (Thomson Reuters) Pathways for MPL

	Development Thrombopoietin-regulated cell processes
	Development Thrombopoetin signaling via JAK-STAT pathway

3 Reactome Pathways for MPL

	Hemostasis
	Platelet activation, signaling and aggregation
	Platelet Aggregation (Plug Formation)

2 Kegg Pathways (Kegg details for MPL):

	Cytokine-cytokine receptor interaction
	Jak-STAT signaling pathway

MPL for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MPL

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/24 Interacting proteins for MPL (P40238³ ENSP00000361548⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IRS2	Q9Y4H2³, ENSP00000365016⁴	I2D: score=1 STRING: ENSP00000365016
PTPN11	Q06124³, ENSP00000340944⁴	I2D: score=1 STRING: ENSP00000340944
SHC1	P29353³, ENSP00000401303⁴	I2D: score=1 STRING: ENSP00000401303
THPO	P40225³, ENSP00000204615⁴	I2D: score=1 STRING: ENSP00000204615
JAK2	O60674³, ENSP00000371067⁴	I2D: score=1 STRING: ENSP00000371067

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007166	cell surface receptor signaling pathway	TAS	8020956
GO:0007596	blood coagulation	TAS	--
GO:0008283	cell proliferation	TAS	8020956
GO:0030168	platelet activation	TAS	--
GO:0032642	regulation of chemokine production	IEA	--

MPL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MPL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MPL
10/22 Novoseek chemical compound relationships for MPL gene (see all 22) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
megapoietin	85.8	2	9154314 (1), 11012231 (1)
anagrelide	62	2	16413395 (1), 16810615 (1)
reticulin	58.5	2	19671919 (1), 16834459 (1)
tyrosine	52.6	39	10224114 (3), 8555464 (2), 8695851 (2), 9600081 (2) (see all 26)
gp 130	27.4	6	9685167 (2), 10068651 (2), 9389693 (1)
adp	27.4	1	15863506 (1)
polyethylene glycol	19.1	3	11830463 (1), 8948025 (1), 12361196 (1)
aspirin	15.8	1	8639835 (1)
thromboxane	11.5	2	8639835 (1)
phosphatidylinositol	7.97	1	11418622 (1)

Search CenterWatch for drugs/clinical trials and news about MPL / TPOR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MPL gene:

NM_005373.2

Unigene Cluster for MPL:

Myeloproliferative leukemia virus oncogene

Hs.82906 [show with all ESTs]

Unigene Representative Sequence: NM_005373

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372470(uc001ciw.3 uc009vwr.3) ENST00000413998(uc001civ.3)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPL
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MPL (see all 16):
		hsa-miR-30c hsa-miR-767-5p hsa-miR-501-3p hsa-miR-30d hsa-miR-502-3p hsa-miR-30a hsa-miR-28-5p hsa-miR-1252

		SwitchGear 3'UTR luciferase reporter plasmid: MPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPL (see all 4) OriGene shRNA RFP: MPL OriGene siRNA: MPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPL

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPL OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MPL (NM_005373)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPL

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MPL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPL

Additional cDNA sequence:

DQ234353.1 M90102.1 M90103.1

2 DOTS entries:

DT.95203663 DT.407014

4 AceView cDNA sequences:

M90102 M90103 NM_005373 BV196940

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for MPL About this scheme

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

ECgene alternative splicing isoforms for MPL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MPL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATAGTAGGCC

About this image

MPL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Blood

Peripheral Blood

Megakaryocytes

Selective marker (cell-identifying gene)

Blood

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Blast colony cells (Generation and expan...)

See MPL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MPL

SOURCE GeneReport for Unigene cluster: Hs.82906

UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238

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

SABiosciences Expression via Pathway-Focused PCR Arrays including MPL:

Interferons & Receptors in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MPL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MPL gene from 3/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MPL¹	myeloproliferative leukemia virus oncogene	52.08(n) 41.18(a)		414804 NM_001001782.1 NP_001001782.1
lizard (Anolis carolinensis)	Reptilia	MPL⁶	--	28(a)	1 ↔ 1	4(107230248-107239342)
zebrafish (Danio rerio)	Actinopterygii	mpl¹	myeloproliferative leukemia virus oncogene	41.28(n) 27.64(a)		445381 NM_001003858.1 NP_001003858.1

ENSEMBL Gene Tree for MPL (if available)
TreeFam Gene Tree for MPL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MPL gene

EPOR²

MPL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28928907^1,2	C,F,	pathogenic	43804305(+)	`AGTGCG/CTCTCT`	2	/P /R	mis¹ ese³		4		NA EU	5879
rs121913611^1,2	C	pathogenic	43805713(+)	`AGCTGC/TGCAGC`	2	R C	mis¹		1		NA	4548
rs17292650^1,2	C,F,H,	other	43803807(+)	`CTGAAG/TTGTTT`	2	K N	mis¹ ese³		15		NS EA NA WA EU	7357
rs138045842^1,2		--	43801620(+)	`CTAAAC/GACAAA`	1	--	us2k¹		0	--	--	--	--
rs191859043^1,2		--	43801672(+)	`ACTAAC/GACTTC`	1	--	us2k¹		0	--	--	--	--
rs142523149^1,2		--	43801705(+)	`ATCTCC/TTCCTT`	1	--	us2k¹		0	--	--	--	--
rs145971265^1,2		--	43801789(+)	`GTTGAA/TGTGGC`	1	--	us2k¹		0	--	--	--	--
rs184623493^1,2		--	43801825(+)	`CCTGTC/TCCCAC`	1	--	us2k¹		0	--	--	--	--
rs188211569^1,2		--	43802033(+)	`CAATCC/TTGGGT`	1	--	us2k¹		0	--	--	--	--
rs138590938^1,2		--	43802143(+)	`TTGTAC/TTTTTA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MPL (43803475 - 43820135 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MPL: --
Human Gene Mutation Database (HGMD): MPL

Locus Specific Mutation Databases (LSDB): MPL

5/7 SABiosciences Cancer Mutation PCR Assays for MPL (see all 7):

Cosmic Id	AA Change
27290	p.A519T
19193	p.W515K
86964	p.V501A
27289	p.W515A
27286	p.S505N

3 SABiosciences Cancer Mutation PCR Arrays containing MPL:

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MPL for disorders           About GeneDecksing

OMIM gene information: 159530
OMIM disorders: 604498  187950
UniProtKB/Swiss-Prot: TPOR_HUMAN, P40238

Defects in MPL are a cause of congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]. CAMT is a

disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies

Defects in MPL are the cause of thrombocythemia type 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

Defects in MPL are a cause of 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

20/49 diseases for MPL (see all 49): About MalaCards

leukemia thrombocytopenia-absent radius syndrome ruptured thoracic aortic aneurysm thrombycytosis

congenital amegakaryocytic thrombocytopenia polycythemia vera cavernous sinus thrombosis autoimmune thrombocytopenic purpura

thrombocytopenia chronic myeloproliferative disease myelofibrosis megakaryoblastic leukemia

polycythemia myeloproliferative disorder lupus erythematosus erythrocytosis

pancytopenia essential thrombocythemia acute megakaryoblastic leukemia leukemia/lymphoma

6 diseases from the University of Copenhagen DISEASES database for MPL:

Thrombocytopenia Thrombocytosis Polycythemia Myelofibrosis

Chronic myeloproliferative disease Leukemia

10/53 Novoseek disease relationships for MPL gene (see all 53) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
amegakaryocytic thrombocytopenia, congenital	96.3	28	19302922 (3), 16413394 (1), 19252138 (1), 10077649 (1) (see all 19)
thrombocythemia essential	87.1	19	12010817 (2), 15390356 (2), 19483125 (2), 20113333 (2) (see all 13)
thrombocytosis	87	51	19036112 (4), 10520034 (2), 15269348 (2), 17920755 (2) (see all 30)
polycythemia vera	85.3	21	10887148 (2), 9475764 (2), 17956691 (2), 10515857 (2) (see all 11)
primary myelofibrosis	85.3	4	20113333 (2), 8589367 (1), 19194467 (1)
myeloproliferative disorders	83.7	32	15095485 (3), 8589367 (2), 17693582 (2), 15899890 (1) (see all 19)
megakaryocytic hypoplasia	82.2	5	12209520 (2), 12794833 (1)
thrombocytopenia	81.1	81	10049050 (2), 12209520 (2), 12794833 (2), 9209831 (2) (see all 49)
idiopathic myelofibrosis	77	4	9864154 (1), 17920755 (1), 15095485 (1), 19194467 (1)
myelofibrosis	76.1	6	11012187 (1), 9592015 (1), 17920755 (1), 17408465 (1) (see all 6)

Genetic Association Database (GAD): MPL
Human Genome Epidemiology (HuGE) Navigator: MPL (28 documents)
Tumor Gene Database (TGDB): MPL

Export disorders for MPL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MPL gene, integrated from 9 sources (see all 468):
(articles sorted by number of sources associating them with MPL)

Utopia: connect your pdf to the dynamic
world of online information

Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. (PubMed id 15269348)^{1, 2, 4, 9} Moliterno A.R....Spivak J.L. (2004)
Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily. (PubMed id 1608974)^{1, 2, 3} Vigon I.... Souyri M. (1992)
The Asn505 mutation of the c-MPL gene, which causes f amilial essential thrombocythemia, induces autonomous homodimerization of the c -Mpl protein due to strong amino acid polarity. (PubMed id 19483125)^{1, 2, 9} Ding J....Ueda R. (2009)
Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count. (PubMed id 15307100)^{1, 4, 9} Zeng S.M....Yankowitz J. (2004)
Structure and transcription of the human c-mpl gene (MPL). (PubMed id 8020956)^{1, 2, 9} Mignotte V.... Chretien S. (1994)
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. (PubMed id 16834459)^{1, 2, 9} Pikman Y....Levine R.L. (2006)
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. (PubMed id 14764528)^{1, 2, 9} Ding J....Ueda R. (2004)
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. (PubMed id 16868251)^{1, 2} Pardanani A.D....Tefferi A. (2006)
Cloning and characterization of a family of proteins associated with Mpl. (PubMed id 11784712)^{1, 2} Meunier C.F....Courtois G. (2002)
Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)^{1, 2} Cargill M....Lander E.S. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4352	HGNC: 7217	AceView: MPL	Ensembl:ENSG00000117400	euGenes: HUgn4352
ECgene: MPL	Kegg: 4352	H-InvDB: MPL

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MPL	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MPL	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPL

Intellectual Property for MPL gene
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Patent Information for MPL gene:
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GeneCards and IP:
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myeloproliferative leukemia virus oncogene

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AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
Thrombocytosis
Polycythemia
Myeloid Leukemia
Purpura Thrombocytopenic
Myelofibrosis
ABNORMAL PLATELETS
Leukemia Myelomonocytic Chronic
Erythroleukemia
Autoimmune Thrombocytopenia
Agnogenic Myeloid Metaplasia
Aplasia
aggressiveness
ACUTE LEUKEMIA
Myeloid Leukemia Chronic
Leukemia
Liver diseases
Purpura Thrombocytopenic Idiopathic
Pancytopenia
Cancer
Thrombocytopenia
Hematologic Malignancies
rare disease
Megakaryocytic hypoplasia
Chronic myeloproliferative disease
Splenomegaly
Polycythemia Vera
Myeloproliferative Disorders
cytopenia
HIV Infections
Bleeding
HEMATOLOGIC DISORDERS
Erythrocytosis
iron deficiency
solid tumor
myeloproliferative neoplasm
immunodeficiency
idiopathic myelofibrosis
Neutropenia
primary myelofibrosis
Anemia
Anemia Aplastic
Tumors
Thrombosis
Thrombocythemia Essential
Lymphoblastic Leukemia Acute
mimicry
Necrosis
Liver Cirrhosis
Anemia Refractory
Hepatoblastoma
Myelodysplastic Syndromes
Lupus Erythematosus Systemic

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MPL Gene

myeloproliferative leukemia virus oncogene

Aliasesfor MPL gene

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