MPL (MPL proto-oncogene, thrombopoietin receptor)

2003-02-01 Affiliation

Identity

HGNC

MPL

LOCATION

1p34.2

LOCUSID

4352

ALIAS

C-MPL,CD110,MPLV,THCYT2,THPOR,TPOR

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000117400	ENST00000372470	P40238
ENSG00000117400	ENST00000413998	Q5JUY5
ENSG00000117400	ENST00000643351	A0A2R8YE13

Expression (GTEx)

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

Pathway	Source	External ID
Cytokine-cytokine receptor interaction	KEGG	ko04060
Jak-STAT signaling pathway	KEGG	ko04630
Cytokine-cytokine receptor interaction	KEGG	hsa04060
Jak-STAT signaling pathway	KEGG	hsa04630
Hemostasis	REACTOME	R-HSA-109582
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Platelet Aggregation (Plug Formation)	REACTOME	R-HSA-76009

References

Pubmed ID	Year	Title	Citations
16834459	2006	MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.	368
16868251	2006	MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.	233
16868251	2006	MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.	233
24402162	2014	CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons.	109
18451306	2008	MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.	88
18451306	2008	MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.	88
20508616	2010	IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis.	85
26668133	2016	Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants.	80
24986690	2014	Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis.	75
14764528	2004	Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.	63

Citation

Dessen P

MPL (MPL proto-oncogene, thrombopoietin receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41419/mpl-(mpl-proto-oncogene-thrombopoietin-receptor)