EPOR (erythropoietin receptor)

2003-12-01  

Identity

HGNC
EPOR
LOCATION
19p13.2
LOCUSID
2057
ALIAS
EPO-R
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2057
MIM: 133171
HGNC: 3416
Ensembl: ENSG00000187266

Variants:

dbSNP: 2057
ClinVar: 2057
TCGA: ENSG00000187266
COSMIC: EPOR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187266ENST00000222139P19235
ENSG00000187266ENST00000586890K7EP50
ENSG00000187266ENST00000588859K7EN47
ENSG00000187266ENST00000591958K7ERB5
ENSG00000187266ENST00000592375P19235

Expression (GTEx)

0
50
100
150
200
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
Hematopoietic cell lineageKEGGko04640
Cytokine-cytokine receptor interactionKEGGhsa04060
Jak-STAT signaling pathwayKEGGhsa04630
Hematopoietic cell lineageKEGGhsa04640
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151

References

Pubmed IDYearTitleCitations
381279132024Hemolysis-driven IFNα production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease.2
385092042024Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease.0
381279132024Hemolysis-driven IFNα production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease.2
385092042024Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease.0
368598412023[Update on the role and mechanism of erythropoietin receptor in acute kidney injury and repair or fibrosis].0
378444852023Erythropoietin receptor is a risk factor for prognosis: A potential biomarker in lung adenocarcinoma.0
368598412023[Update on the role and mechanism of erythropoietin receptor in acute kidney injury and repair or fibrosis].0
378444852023Erythropoietin receptor is a risk factor for prognosis: A potential biomarker in lung adenocarcinoma.0
353552482022An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2(V617F) myeloproliferative neoplasms.4
353954282022Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.2
358392752022Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia.6
353552482022An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2(V617F) myeloproliferative neoplasms.4
353954282022Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.2
358392752022Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia.6
349211332021EpoR stimulates rapid cycling and larger red cells during mouse and human erythropoiesis.11

Citation

Dessen P

EPOR (erythropoietin receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40475/gene-fusions/favicon/humanGenome