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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 erythr... See more...
Aliases for EPOR Gene
Aliases for EPOR Gene
External Ids for EPOR Gene
- HGNC: 3416
- NCBI Entrez Gene: 2057
- Ensembl: ENSG00000187266
- OMIM®: 133171
- UniProtKB/Swiss-Prot: P19235
Previous GeneCards Identifiers for EPOR Gene
- GC19M011619
- GC19M011710
- GC19M011333
- GC19M011348
- GC19M011350
- GC19M011489
- GC19M011063
Summaries for EPOR 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, 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]
GeneCards Summary for EPOR Gene
EPOR (Erythropoietin Receptor) is a Protein Coding gene. Diseases associated with EPOR include Erythrocytosis, Familial, 1 and Primary Polycythemia. Among its related pathways are Nanog in Mammalian ESC Pluripotency and JAK-STAT signaling pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and erythropoietin receptor activity. An important paralog of this gene is MPL.
UniProtKB/Swiss-Prot Summary for EPOR Gene
-
Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.
-
Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.
Additional gene information for EPOR Gene
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPOR Gene
Genomics for EPOR Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EPOR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EPOR on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPOR
- Top Transcription factor binding sites by QIAGEN in the EPOR gene promoter:
-
- AREB6
- COUP
- COUP-TF
- E47
- GATA-1
- HNF-4alpha1
- p53
- STAT3
- Tal-1
Genomic Locations for EPOR Gene
Latest Assembly
- chr19:11,377,207-11,384,342
- (GRCh38/hg38)
- Size:
- 7,136 bases
- Orientation:
- Minus strand
Previous Assembly
- chr19:11,487,883-11,494,990
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 7,108 bases
- Orientation:
- Minus strand
Genomic View for EPOR Gene
Genes around EPOR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by HGNC
- 19p13.2 by Entrez Gene
- 19p13.2 by Ensembl
EPOR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EPOR Gene
Proteins for EPOR Gene
-
Protein details for EPOR Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P19235-EPOR_HUMAN
- Recommended name:
- Erythropoietin receptor
- Protein Accession:
- P19235
- B2RCG4
- Q15443
- Q2M205
Protein attributes for EPOR Gene
- Size:
- 508 amino acids
- Molecular mass:
- 55065 Da
- Quaternary structure:
-
- Forms homodimers on EPO stimulation. The tyrosine-phosphorylated form interacts with several SH2 domain-containing proteins including LYN (By similarity), the adapter protein APS, PTPN6 (By similarity), PTPN11, JAK2, PI3 kinases, STAT5A/B, SOCS3, CRKL (By similarity). Interacts with INPP5D/SHIP1 (By similarity). The N-terminal SH2 domain of PTPN6 binds Tyr-454 and inhibits signaling through dephosphorylation of JAK2 (By similarity). APS binding also inhibits the JAK-STAT signaling. Binding to PTPN11, preferentially through the N-terminal SH2 domain, promotes mitogenesis and phosphorylation of PTPN11 (By similarity). Binding of JAK2 (through its N-terminal) promotes cell-surface expression (By similarity). Interacts with RHEX; this interaction occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874). Interaction with the ubiquitin ligase NOSIP mediates EPO-induced cell proliferation. Interacts with ATXN2L.
Three dimensional structures from OCA and Proteopedia for EPOR Gene
Protein Expression for EPOR Gene
Post-translational modifications for EPOR Gene
- On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation. Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for SOCS3 binding, but Tyr-454/Tyr-456 motif is the preferred binding site.
- Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes trafficking of activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP; appears to be either multi-monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and survival of EPO-dependent cells.
-
Glycosylation at Asn76
- NX_P19235 (NX_P19235-1)
-
Ubiquitination at Lys281 and Lys453
- NX_P19235 (NX_P19235-1)
- Modification sites at PhosphoSitePlus
Other Protein References for EPOR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for EPOR
- Invitrogen Antibodies for EPOR (AFLGC-EPOR)
- antibodies-online: Show 61 available EPOR Antibodies ranked by validation data
- Compare Top EPOR Antibodies
-
Recommended
- 159 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 11 FACS Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 84 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 80 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
-
Boster Bio Antibodies for EPOR
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPOR
- Sino Biological Antibodies for EPOR
Protein products for research
-
OriGene Purified Proteins for EPOR
- Search Origene for MassSpec and Protein Over-expression Lysates for EPOR
- Origene Custom Protein Services for EPOR
- Novus Biologicals lysates for EPOR
- Sino Biological Recombinant Proteins for EPOR
- Sino Biological Cell Lysates for EPOR
- ProSpec Recombinant Proteins for EPOR
-
Abcam proteins for EPOR
Assay products for research
- RayBiotech Human EPO Receptor ELISA
- Novus Biologicals ELISA Kits for EPOR
- antibodies-online: Show 66 available EPOR Elisa Kits ranked by validation data
- Compare Top EPOR Elisa Kits
-
Quality Products:
- ABIN1114814
- ABIN5499291
- ABIN414365
- ABIN365793
- ABIN1028612
- ABIN4993066
- ABIN1979359
- ABIN3198528
- ABIN5522735
- ABIN5668998
- ABIN1114813
- ABIN366347
- ABIN627787
- ABIN5593380
- ABIN1380411
- ABIN1381116
- ABIN6254541
- ABIN6212348
- ABIN6212347
- ABIN2684144
- ABIN431556
- ABIN1569613
- ABIN5522736
- ABIN366476
- ABIN626966
- ABIN5653979
- ABIN4968938
- ABIN2533117
- ABIN991558
- ABIN1132292
- Sino Biological Assays for EPOR
No data available for DME Specific Peptides for EPOR Gene
Domains & Families for EPOR Gene
Gene Families for EPOR Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
Protein Domains for EPOR Gene
Suggested Antigen Peptide Sequences for EPOR Gene
- GenScript: Design optimal peptide antigens:
-
- Erythropoietin receptor (A9QVL7_HUMAN)
- Erythropoietin receptor (EPOR_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P19235UniProtKB/Swiss-Prot:
EPOR_HUMAN :- The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
- Belongs to the type I cytokine receptor family. Type 1 subfamily.
- Domain:
-
- The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
- The box 1 motif is required for JAK interaction and/or activation.
- Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
- Family:
-
- Belongs to the type I cytokine receptor family. Type 1 subfamily.
Function for EPOR Gene
Molecular function for EPOR Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.
- UniProtKB/Swiss-Prot Function:
- Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.
- GENATLAS Biochemistry:
- erythropoietin receptor,unlikely involved in Diamond-Blackfan anemia,tightly linked to a full size LTR of human endogenous retroviruses HERV-K,interacting with JAK2 and STAT5,expressed in kidney cells
Phenotypes From GWAS Catalog for EPOR Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
| GO:0004896 | cytokine receptor activity | IEA | -- |
| GO:0004900 | erythropoietin receptor activity | TAS,IDA | 2163696 |
| GO:0005515 | protein binding | IPI | 7228577 |
| GO:0042802 | identical protein binding | IPI | 16116438 |
Phenotypes for EPOR Gene
- MGI mutant phenotypes for EPOR:
-
inferred from 12 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- vision/eye phenotype
- embryo phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for EPOR:
-
- Reduced mammosphere formation
- no effect
- Decreased viability after Maraba virus infection
- Decreased interferon-beta reporter expression
- Decreased viability
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Reduced shRNA abundance in FBW7 KO line
Animal Models for EPOR Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for EPOR
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPOR - Starting at $85 >
- * EPOR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPOR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOR
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPOR
miRNA for EPOR Gene
- miRTarBase miRNAs that target EPOR
-
- hsa-miR-335-5p (MIRT018029)
- hsa-miR-125b-5p (MIRT438152)
- hsa-miR-1277-5p (MIRT514231)
- hsa-miR-190a-3p (MIRT514232)
- hsa-miR-223-5p (MIRT514233)
- hsa-miR-511-3p (MIRT514234)
- hsa-miR-5011-5p (MIRT514235)
- hsa-miR-5580-3p (MIRT514236)
- hsa-miR-4642 (MIRT616979)
- hsa-miR-6894-3p (MIRT616980)
- hsa-miR-4763-5p (MIRT616981)
- hsa-miR-361-3p (MIRT616982)
- hsa-miR-4530 (MIRT616983)
- hsa-miR-503-5p (MIRT616984)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPOR
- Browse OriGene Inhibitory RNA Products For EPOR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOR
Clone products for research
- Applied Biological Materials (abm): Clones for EPOR - Starting at $45 >
- * EPOR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EPOR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOR
Cell Lines for research
-
Horizon Cell Lines for EPOR
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPOR Gene
Localization for EPOR Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPOR Gene
- Cell membrane. Single-pass type I membrane protein.
- [Isoform EPOR-S]: Secreted. Note=Secreted and located to the cell surface.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| nucleus | 4 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| endosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Plasma membrane (3)
- Nuclear speckles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 1848667 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for EPOR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
| 2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 3 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
| 4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
|
| 5 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
Pathways by source for EPOR Gene
4 BioSystems pathways for EPOR Gene
5 KEGG pathways for EPOR Gene
3 GeneGo (Thomson Reuters) pathways for EPOR Gene
- Development EPO-induced Jak-STAT pathway
- Development EPO-induced MAPK pathway
- G-protein signaling_K-RAS regulation pathway
1 R&D Systems pathway for EPOR Gene
33 Qiagen pathways for EPOR Gene
- 14-3-3 Induced Intracellular Signaling
- Actin Nucleation and Branching
- Actin Nucleation by ARP-WASP Complex
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
Interacting Proteins for EPOR Gene
Selected Interacting proteins:
P19235-EPOR_HUMAN
ENSP00000222139
for EPOR Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for EPOR
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | NAS | 1668606 |
| GO:0007420 | brain development | IEA | -- |
| GO:0007507 | heart development | IEA | -- |
| GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | TAS | -- |
| GO:0019221 | cytokine-mediated signaling pathway | IEA | -- |
Drugs & Compounds for EPOR Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| erythropoietin | Approved | Pharma | Agonist, Target | 0 | ||
| Darbepoetin alfa | Approved, Investigational | Pharma | Target, agonist | 214 | ||
| Methoxy polyethylene glycol-epoetin beta | Approved | Pharma | Target, stimulator | 0 | ||
| Peginesatide | Approved, Investigational | Pharma | Target, stimulator | 0 | ||
| Dibromotyrosine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for EPOR Gene
mRNA/cDNA for EPOR Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000222139 2411 nts (view in UCSC)
- ENST00000586890 1850 nts (view in UCSC)
- ENST00000588681 2133 nts (view in UCSC)
- ENST00000588859 1825 nts (view in UCSC)
- ENST00000589402 986 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPOR - Starting at $85 >
- * EPOR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPOR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOR
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPOR
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPOR
- Browse OriGene Inhibitory RNA Products For EPOR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOR
Clone products for research
- Applied Biological Materials (abm): Clones for EPOR - Starting at $45 >
- * EPOR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EPOR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOR
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: |
| ExUns: | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | · | 29c | · | 29d | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | · | 32c | · | 32d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||
| SP16: |
Relevant External Links for EPOR Gene
- GeneLoc Exon Structure for
- EPOR
Expression for EPOR Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
- Atrioventricular Node
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Bone (Muscoskeletal System)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for EPOR Gene
This gene is overexpressed in Thyroid (x7.7).
This gene is overexpressed in Urine (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPOR Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPOR
SOURCE GeneReport for Unigene cluster for EPOR Gene:
Hs.631624mRNA Expression by UniProt/SwissProt for EPOR Gene:
P19235-EPOR_HUMAN
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 bone marrow. Isoform EPOR-T is the most abundant from in early-stage erythroid progenitor cells.
Evidence on tissue expression from TISSUES for EPOR Gene
- Bone marrow(4.6)
- Blood(4.6)
- Nervous system(4.5)
- Kidney(2.8)
- Heart(2.5)
- Spleen(2.4)
- Liver(2.2)
- Muscle(2.2)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EPOR Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- ear
- face
- head
- meninges
- neck
- nose
Thorax:
- bronchus
- heart
- heart valve
- lung
- trachea
Abdomen:
- liver
- spleen
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- red blood cell
- skin
Primer products for research
-
OriGene qPCR primer pairs for EPOR
-
OriGene qPCR primer pairs and template standards for EPOR
Gene Expression Assays for research
Orthologs for EPOR Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EPOR 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPOR 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EPOR 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Epor 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Epor 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EPOR 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EPOR 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EPOR 30 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | epor 29 30 30 |
|
OneToMany |
- Species where no ortholog for EPOR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for EPOR Gene
- ENSEMBL:
- Gene Tree for EPOR (if available)
- TreeFam:
- Gene Tree for EPOR (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPOR: view image
- Alliance of Genome Resources:
- Additional Orthologs for EPOR
Paralogs for EPOR Gene
Variants for EPOR Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPOR Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 889490 | Uncertain Significance: Primary familial polycythemia due to EPO receptor mutation | 11,378,044(-) |
A/G NM_000121.4(EPOR):c.1467T>C (p.Tyr489=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 889491 | Likely Benign: Primary familial polycythemia due to EPO receptor mutation | 11,378,055(-) |
A/G NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 889548 | Uncertain Significance: Primary familial polycythemia due to EPO receptor mutation | 11,383,242(-) |
G/A NM_000121.4(EPOR):c.116-10C>T |
INTRON | |
| 889549 | Uncertain Significance: Primary familial polycythemia due to EPO receptor mutation | 11,384,195(-) |
C/T NM_000121.4(EPOR):c.13G>A (p.Gly5Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 889550 | Uncertain Significance: Primary familial polycythemia due to EPO receptor mutation | 11,384,216(-) |
C/T NM_000121.4(EPOR):c.-9G>A |
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.83;
58.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EPOR Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPOR Gene
Disorders for EPOR Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erythrocytosis, familial, 1 |
|
|
| primary polycythemia |
|
|
| polycythemia |
|
|
| acute megakaryoblastic leukemia without down syndrome |
|
|
| acquired polycythemia |
|
|
Search EPOR in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EPOR_HUMAN- Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]: An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. {ECO:0000269 PubMed:8506290, ECO:0000269 PubMed:8608241}. Note=The disease is caused by variants affecting the gene represented in this entry.
Genatlas disease for EPOR Gene
erythrocytosis,primary familial polycythemia
Additional Disease Information for EPOR
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for EPOR Gene
- Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. (PMID: 18006699) Pardanani A … Tefferi A (Blood 2008) 3 22 40
- Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. (PMID: 17488692) Rives S … Cario H (Haematologica 2007) 3 22 72
- Erythropoietin receptors associate with a ubiquitin ligase, p33RUL, and require its activity for erythropoietin-induced proliferation. (PMID: 12746455) Friedman AD … Quelle FW (The Journal of biological chemistry 2003) 3 4 22
- Identification of the human erythropoietin receptor region required for Stat1 and Stat3 activation. (PMID: 11756159) Kirito K … Komatsu N (Blood 2002) 3 4 22
- A new high affinity binding site for suppressor of cytokine signaling-3 on the erythropoietin receptor. (PMID: 12027890) Hörtner M … Haan S (European journal of biochemistry 2002) 3 4 22
ExternalLinks
Products for EPOR Gene
- View all 27 R&D Systems EPOR (Erythropoietin R) Products
- View all 2 R&D Systems EPOR (Erythropoietin R) Proteins and Enzymes
- View all 23 R&D Systems EPOR (Erythropoietin R) Primary Antibodies
- View all R&D Systems EPOR (Erythropoietin R) ELISAs
- View all R&D Systems EPOR (Erythropoietin R) cDNA Clones
- Learn more about R&D Systems custom EPOR antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for EPOR
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for EPOR
- Search Origene for MassSpec and Protein Over-expression Lysates for EPOR
- Origene Custom Protein Services for EPOR
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPOR
- Browse OriGene Inhibitory RNA Products For EPOR
- OriGene qPCR primer pairs for EPOR
- OriGene qPCR primer pairs and template standards for EPOR
- OriGene CRISPR knockouts for EPOR
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EPOR
- Sino Biological Human cDNA Clone for EPOR
- Sino Biological Recombinant Proteins for EPOR
- Sino Biological Cell Lysates for EPOR
- Sino Biological Antibodies for EPOR
- Sino Biological Assays for EPOR
- Browse Recombinant Proteins
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPOR
- Novus Biologicals lysates for EPOR
- Novus Biologicals ELISA Kits for EPOR
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for EPOR
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for EPOR
- Taconic Biosciences Mouse Models for EPOR
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for EPOR (AFLGC-EPOR)
- VectorBuilder Custom and pre-made DNA vectors for EPOR (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EPOR (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EPOR (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EPOR CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EPOR
- antibodies-online: Show 61 available EPOR Antibodies ranked by validation data
- Compare Top EPOR Antibodies
- Recommended
- 159 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 11 FACS Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 84 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 80 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- antibodies-online: Show 66 available EPOR Elisa Kits ranked by validation data
- Compare Top EPOR Elisa Kits
- Quality Products:
- ABIN1114814
- ABIN5499291
- ABIN414365
- ABIN365793
- ABIN1028612
- ABIN4993066
- ABIN1979359
- ABIN3198528
- ABIN5522735
- ABIN5668998
- ABIN1114813
- ABIN366347
- ABIN627787
- ABIN5593380
- ABIN1380411
- ABIN1381116
- ABIN6254541
- ABIN6212348
- ABIN6212347
- ABIN2684144
- ABIN431556
- ABIN1569613
- ABIN5522736
- ABIN366476
- ABIN626966
- ABIN5653979
- ABIN4968938
- ABIN2533117
- ABIN991558
- ABIN1132292
- antibodies-online: Show 29 available EPOR Proteins ranked by validation data
- Compare Top EPOR Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for EPOR
- Search Santa Cruz Biotechnology (SCBT) for EPOR siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPOR
- Horizon Cell Lines for EPOR
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOR
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EPOR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOR
- Boster Bio Antibodies for EPOR
Sources for EPOR Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources