MPL (MPL proto-oncogene, thrombopoietin receptor)

2003-02-01  

Identity

HGNC
MPL
LOCATION
1p34.2
LOCUSID
4352
ALIAS
C-MPL,CD110,MPLV,THCYT2,THPOR,TPOR

Other Information

Locus ID:

NCBI: 4352
MIM: 159530
HGNC: 7217
Ensembl: ENSG00000117400

Variants:

dbSNP: 4352
ClinVar: 4352
TCGA: ENSG00000117400
COSMIC: MPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117400ENST00000372470P40238
ENSG00000117400ENST00000413998Q5JUY5
ENSG00000117400ENST00000643351A0A2R8YE13

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Jak-STAT signaling pathwayKEGGko04630
Cytokine-cytokine receptor interactionKEGGhsa04060
Jak-STAT signaling pathwayKEGGhsa04630
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Platelet Aggregation (Plug Formation)REACTOMER-HSA-76009

References

Pubmed IDYearTitleCitations
378837942024PF4 activates the c-Mpl-Jak2 pathway in platelets.2
379398322024Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.0
378837942024PF4 activates the c-Mpl-Jak2 pathway in platelets.2
379398322024Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.0
359244082023Clonal evolution in hereditary thrombocytosis with MPL T487A mutation.0
360314332023Novel modes of MPL activation in triple-negative myeloproliferative neoplasms.0
364760172023Frequency of JAK2V617F, MPL and CALR driver mutations and associated clinical characteristics in a Norwegian patient cohort with myeloproliferative neoplasms.0
373785672023MPL gene mutation is a possible risk factor for thrombosis in patients with essential thrombocythemia in Japan.1
374384902023Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.0
376100302023A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.1
378838142023Assessment of intestinal status in MPL(W515L) mutant myeloproliferative neoplasms mice model.0
381115182023JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.1
359244082023Clonal evolution in hereditary thrombocytosis with MPL T487A mutation.0
360314332023Novel modes of MPL activation in triple-negative myeloproliferative neoplasms.0
364760172023Frequency of JAK2V617F, MPL and CALR driver mutations and associated clinical characteristics in a Norwegian patient cohort with myeloproliferative neoplasms.0

Citation

Dessen P

MPL (MPL proto-oncogene, thrombopoietin receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41419/deep-insight-explorer/css/meetings/