Homo sapiens Gene: EPOR
Summary
InnateDB Gene IDBG-29281.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EPOR
Gene Name erythropoietin receptor
Synonyms EPO-R
Species Homo sapiens
Ensembl Gene ENSG00000187266
Encoded Proteins
erythropoietin receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
EPOR, a member of the cytokine receptor superfamily, associates with the JAK2 protein tyrosine kinase upon erythropoietin stimulation, inducing tyrosine phosphorylation of cellular substrates, including the EPOR, to transduce a growth signal.
Entrez Gene
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, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:11377205-11384342
Strand Reverse strand
Band p13.2
Transcripts
ENST00000222139 ENSP00000222139
ENST00000592375 ENSP00000467809
ENST00000588859 ENSP00000466784
ENST00000588681
ENST00000586890 ENSP00000467230
ENST00000591958 ENSP00000468187
ENST00000589402
ENST00000590927
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 64 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
Experimentally validated
Total 64 [view]
Protein-Protein 64 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 15 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0004900 erythropoietin receptor activity
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0007165 signal transduction
GO:0007420 brain development
GO:0007507 heart development
GO:0038162 erythropoietin-mediated signaling pathway
GO:0045087 innate immune response (InnateDB)
GO:0046697 decidualization
Cellular Component
GO:0005576 extracellular region
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
KitReceptor pathway
REACTOME
KEGG
Hematopoietic cell lineage pathway
Cytokine-cytokine receptor interaction pathway
Jak-STAT signaling pathway pathway
INOH
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
PID NCI
EPO signaling pathway
Signaling events mediated by Stem cell factor receptor (c-Kit)
Cross-References
SwissProt P19235
TrEMBL I6R7G3 K7EN47 K7EP50 K7ERB5
UniProt Splice Variant
Entrez Gene 2057
UniGene Hs.631624
RefSeq NM_000121
HUGO HGNC:3416
OMIM 133171
CCDS CCDS12260
HPRD
IMGT
EMBL AC024575 AK315097 BC112153 CH471106 JQ821735 M34986 M60459 M76595 M77244 S45332 X57282
GenPept AAA52392 AAA52393 AAA52401 AAA52403 AAB23271 AAI12154 AFM52331 BAG37561 CAA40550 EAW84205
RNA Seq Atlas 2057