• Gene id: 2057

Gene Summary

• Gene Symbol: EPOR   Gene   UCSC   Ensembl
• Aliases: EPO-R
• Gene name: erythropoietin receptor
• Alternate names: erythropoietin receptor, truncated erythropoietin receptor,
• Gene location: 19p13.2 (11384313: 11377206)     Exons: 8     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 133171

Protein Summary

• Protein general information: P19235  
  • Name: Erythropoietin receptor (EPO R)
  • Length: 508  
  • Mass: 55065
  • Tissue specificity: Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the predominant forms in bon
• Sequence:

  MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDLVCFWEEAASAGVGPG
  NYSFSYQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPLELRVTAASGAPRYHRVIHINEVVLLDAPVG
  LVARLADESGHVVLRWLPPPETPMTSHIRYEVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMA
  EPSFGGFWSAWSEPVSLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTH
  KGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVGSEHAQDTYLVLDKWL
  LPRNPPSEDLPGPGGSVDIVAMDEGSEASSCSSALASKPSPEGASAASFEYTILDPSSQLLRPWTLCPELPPTPP
  HLKYLYLVVSDSGISTDYSSGDSQGAQGGLSDGPYSNPYENSLIPAAEPLPPSYVACS

• Structural information:
  • Protein Domains: (147..24-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR009167  IPR003961  IPR036116  IPR015152  IPR013783   IPR003528  
  • Prosite: PS50853 PS01352
  • CDD: cd00063
  • PDB: 1CN4 1EBA 1EBP 1EER 1ERN 2JIX 2MV6 4Y5V 4Y5X 4Y5Y 6E2Q 6MOE 6MOF 6MOH 6MOI 6MOJ 6MOK 6MOL
  • PDBsum: 1CN4 1EBA 1EBP 1EER 1ERN 2JIX 2MV6 4Y5V 4Y5X 4Y5Y 6E2Q 6MOE 6MOF 6MOH 6MOI 6MOJ 6MOK 6MOL
  • DIP: 5732
  • STRING: ENSP00000222139
• Other Databases: GeneCards:  EPOR  Malacards:  EPOR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004900	erythropoietin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0046579	positive regulation of Ras protein signal transduction	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0046697	decidualization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0038162	erythropoietin-mediated signaling pathway	IEA	biological process
GO:0038162	erythropoietin-mediated signaling pathway	IEA	biological process
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0004900	erythropoietin receptor activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Congenital polycythemia	KEGG:H00236
familial erythrocytosis	PMID:9192789
familial erythrocytosis	PMID:8506290
familial erythrocytosis	PMID:20700488
familial erythrocytosis	PMID:11929803
Alzheimer's disease	PMID:17483696
Hypertension	PMID:19458615
Breast cancer	PMID:12118093
Anemia	PMID:23080113
Malignant glioma	PMID:21749867
Polycythemia	PMID:11158582
Polycythemia vera	PMID:9207443
Systemic lupus erythematosus	PMID:23151030
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881