EPOR (erythropoietin receptor)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2057
Gene name Gene Name - the full gene name approved by the HGNC.
Erythropoietin receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPOR
Synonyms (NCBI Gene) Gene synonyms aliases
EPO-R
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(106)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
133171 3416 ENSG00000187266
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Megakaryoblastic Leukemia Without Down Syndrome acute megakaryoblastic leukemia without down syndrome rs121917830 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Erythrocytosis familial erythrocytosis N/A N/A ClinVar
Polycythemia primary familial polycythemia due to EPO receptor mutation N/A N/A GenCC
Show/Hide Text Mining Associations (78)
Associations from Text Mining Disease 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