EPOR (erythropoietin receptor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2057
Gene name Erythropoietin receptor
Gene symbol EPOR
Synonyms (NCBI Gene)
EPO-R
Chromosome 19
Chromosome location 19p13.2
Summary This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphat
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs62638745 T>C,G Benign, likely-benign, affects, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs121917830 C>A,T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs121917831 G>A,C Affects Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs121918116 C>T Affects, pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs370865377 G>A Likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
106
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT018029 hsa-miR-335-5p Microarray 18185580
MIRT438152 hsa-miR-125b-5p Luciferase reporter assay 24165569
MIRT438152 hsa-miR-125b-5p Luciferase reporter assay 24165569
MIRT438152 hsa-miR-125b-5p Luciferase reporter assay 24165569
MIRT438152 hsa-miR-125b-5p Luciferase reporter assay 24165569
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
GATA1 Activation 16471262
GATA1 Unknown 23577103;7659529;8513868
GATA3 Unknown 23577103
SP1 Repression 8521844
SP1 Unknown 23577103;7659529
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004896 Function Cytokine receptor activity IEA
GO:0004900 Function Erythropoietin receptor activity IBA
GO:0004900 Function Erythropoietin receptor activity IDA 2163696, 9774108
GO:0004900 Function Erythropoietin receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
133171 3416 ENSG00000187266
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19235
Protein name Erythropoietin receptor (EPO-R)
Protein function Receptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation (PubMed:10388848, PubMed:2163695, PubMed:2163696, PubMed:8662939, PubMed:9774108). Upon EPO stimulation, EPOR dimerizes triggering
PDB 1CN4 , 1EBA , 1EBP , 1EER , 1ERN , 2JIX , 2MV6 , 4Y5V , 4Y5X , 4Y5Y , 6E2Q , 6I4X , 6MOE , 6MOF , 6MOH , 6MOI , 6MOJ , 6MOK , 6MOL , 8VUI , 8VVM , 8VVO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09067 EpoR_lig-bind 37 → 140 Erythropoietin receptor, ligand binding Domain
PF00041 fn3 146 → 232 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Erythroid cells and erythroid progenitor cells. {ECO:0000269|PubMed:2163696}.; TISSUE SPECIFICITY: [Isoform EPOR-F]: Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitor
Sequence 
MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDL
VCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPL
ELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESGHVVLRWLPPPETPMTSHIRY
EVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMAEPSFGGFWSAWSEPV
SLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTH
KGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVG
SEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDEGSEASSCSSALASKPSPEGAS
AASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLVVSDSGISTDYSSGDSQGAQGGL
SDGPYSNPYENSLIPAAEPLPPSYVACS
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Hormone signaling
Efferocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer 		  Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Erythropoietin activates RAS
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute megakaryoblastic leukemia without down syndrome Likely pathogenic rs121917830 RCV001293750
Primary familial polycythemia due to EPO receptor mutation Likely pathogenic; Pathogenic rs121917830, rs121918116 RCV000258849
RCV000018065
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EPOR-related disorder Likely benign; Benign rs373647199, rs35423344 RCV003934698
RCV003912373
Familial erythrocytosis Uncertain significance; Likely benign rs528356712, rs147119630 RCV000343333
RCV000394759
Intellectual disability-hypotonic facies syndrome, X-linked, 1 Benign; Likely benign rs142094773 RCV001258311
Show/Hide Text Mining Associations (78)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 9292543
Acute erythroleukemia Associate 10651724, 9753066
Altitude Sickness Stimulate 31617751
Anemia Associate 19536148, 26854437
Anemia Diamond Blackfan Associate 8608241
Breast Neoplasms Associate 12209679, 15160341, 17597020, 19133231, 19706814, 20164027, 20189893, 24165569, 24502950, 26854437, 27629849
Bronchopulmonary Sequestration Associate 19930602
Carcinogenesis Associate 16627979, 22025882, 30915348
Carcinoma Hepatocellular Associate 17394495, 23496059, 26097591
Carcinoma Merkel Cell Associate 17201175