|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:anemia
myeloproliferative neoplasms
polycythemia
erythropoiesis
familial erythrocytosis
|
|
gptkbp:discoveredBy
|
gptkb:Harvey_Lodish
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodes
|
erythropoietin receptor protein
|
|
gptkbp:Entrez_Gene_ID
|
2057
ENSG00000187266
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
heart
endothelial cells
erythroid progenitor cells
|
|
gptkbp:fullName
|
erythropoietin receptor
|
|
gptkbp:function
|
mediates erythropoietin-induced erythroid cell proliferation and differentiation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
3416
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
EPOR
|
|
gptkbp:interactsWith
|
gptkb:JAK2
gptkb:erythropoietin
gptkb:STAT5
|
|
gptkbp:length
|
508 amino acids
|
|
gptkbp:locatedOn
|
gptkb:chromosome_19p13.2
|
|
gptkbp:mutationAssociatedWith
|
primary familial and congenital polycythemia
|
|
gptkbp:OMIM
|
133171
|
|
gptkbp:orthologInMouse
|
Epor
|
|
gptkbp:orthologInZebrafish
|
epor
|
|
gptkbp:pathway
|
gptkb:MAPK_pathway
gptkb:PI3K/AKT_pathway
JAK2/STAT5 pathway
|
|
gptkbp:PDB
|
1CN4
1EBP
1EER
1EGA
1EGB
1EGO
1EGR
1ERN
|
|
gptkbp:product
|
single-pass type I membrane protein
|
|
gptkbp:UniProtID
|
P19235
|
|
gptkbp:bfsParent
|
gptkb:JAK2
gptkb:SH2B3
gptkb:GATA2
|
|
gptkbp:bfsLayer
|
7
|