Aliases for EPOR Gene
External Ids for EPOR Gene
- HGNC: 3416
- Entrez Gene: 2057
- Ensembl: ENSG00000187266
- OMIM: 133171
- UniProtKB: 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 ERK Signaling and Akt Signaling. 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 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
- Monarch Initiative
- Search for EPOR at DataMed
- Search for EPOR at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPOR Gene
Genomics for EPOR Gene
GeneHancer (GH) Regulatory Elements for EPOR Gene
Promoters and enhancers for EPOR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EPOR on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EPOR gene promoter:
Regulatory Element Products
Genomic Locations for EPOR Gene
Genomic Locations for EPOR Gene
- chr19:11,377,205-11,384,342
- (GRCh38/hg38)
- Size:
- 7,138 bases
- Orientation:
- Minus strand
- chr19:11,487,881-11,495,018
- (GRCh37/hg19)
Genomic View for EPOR Gene
Genes around EPOR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
- 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 isoforms=2, 376
- Ubiquitination at isoforms=453 and isoforms=3281
- Modification sites at PhosphoSitePlus
Other Protein References for EPOR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for EPOR (Erythropoietin R)
- Novus Biologicals Antibodies for EPOR
- Invitrogen Antibodies for EPOR
- antibodies-online: Search results for 211 available EPOR Antibodies ranked by validation data
- Compare Top EPOR Antibodies
-
Recommended
- 146 WB Antibodies (anti-human)
- 14 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 65 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 60 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex EPOR Antibody for EPOR
-
Custom Antibody ServicesProSci Antibodies for EPOR
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPOR
- Sino Biological Antibodies for EPOR
Protein Products
- R&D Systems Proteins and Enzymes for EPOR (Erythropoietin R)
-
OriGene Purified Proteins for EPOR
- Search Origene for MassSpec and Protein Over-expression Lysates for EPOR
- Origene Custom Protein Services for EPOR
- Sino Biological Cell Lysates for EPOR
- Sino Biological Recombinant Proteins for EPOR
- ProSpec Recombinant Proteins for EPOR
- GeneTex Proteins for EPOR
-
ProSci Proteins for EPOR
Assay Products
- R&D Systems ELISAs and other biochemical assays for EPOR (Erythropoietin R)
- Novus Biologicals ELISA Kits for EPOR
- 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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EPOR Gene
- GenScript: Design optimal peptide antigens:
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:0004896 | cytokine receptor activity | IEA | -- |
| GO:0004900 | erythropoietin receptor activity | IDA,TAS | 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
- cardiovascular system phenotype
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- no phenotypic analysis
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- embryo phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for EPOR:
-
- Reduced shRNA abundance in FBW7 KO line
- Reduced mammosphere formation
- Decreased viability
- no effect
- Decreased interferon-beta reporter expression
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased viability after Maraba virus infection
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for EPOR Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for EPOR
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPOR
-
CRISPR Products
-
OriGene CRISPR knockouts for EPOR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOR
- genomics-online: gRNA clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- Applied Biological Materials CRISPR for EPOR
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPOR
- GenScript: Design CRISPR guide RNA sequences 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPOR
- VectorBuilder custom plasmid, inducible vectors for EPOR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EPOR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOR
- Applied Biological Materials Clones for EPOR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for EPOR (Erythropoietin R)
Cell Line Products
-
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 | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| 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 |
.73
.62
|
.55
|
| 2 | ERK Signaling |
.61
.58
|
.49
|
| 3 | Nanog in Mammalian ESC Pluripotency |
.61
|
.48
|
| 4 | Actin Nucleation by ARP-WASP Complex |
.41
|
|
| 5 | Akt Signaling |
.60
.60
|
|
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
1 R&D Systems pathway for EPOR Gene
Interacting Proteins for EPOR Gene
Selected Interacting proteins:
P19235-EPOR_HUMAN
ENSP00000222139
for EPOR Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for EPOR
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | NAS,IEA | 1668606 |
| GO:0007420 | brain development | IEA | -- |
| GO:0007507 | heart development | IEA | -- |
| GO:0019221 | cytokine-mediated signaling pathway | IEA | -- |
| GO:0038162 | erythropoietin-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, agonist | 0 | ||
| Darbepoetin alfa | Approved, Investigational | Pharma | agonist, Target | 197 | ||
| 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
- (181) Selected AceView cDNA sequences:
- (10) Additional mRNA sequences :
- (1) REFSEQ mRNAs :
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000222139 2411 bps (uc002mrj.3)
- ENST00000586890 1850 bps (uc060trw.1)
- ENST00000588681 2133 bps (uc060trt.1)
- ENST00000588859 1825 bps (uc060tru.1)
- ENST00000589402 986 bps (uc060try.1)
Unigene Clusters for EPOR Gene
CRISPR Products
-
OriGene CRISPR knockouts for EPOR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOR
- genomics-online: gRNA clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- Applied Biological Materials CRISPR for EPOR
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPOR
- GenScript: Design CRISPR guide RNA sequences for EPOR
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPOR
- VectorBuilder custom plasmid, inducible vectors for EPOR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EPOR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOR
- Applied Biological Materials Clones for EPOR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for EPOR (Erythropoietin R)
| 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: |
Expression for EPOR Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Node
- Cardiac Crescent Cells Cardiac Crescent
- NULL (Uncategorized)
- Bone (Muscoskeletal System)
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
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
NURSA nuclear receptor signaling pathways regulating expression of EPOR Gene:
EPORSOURCE 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
- Blood(4.6)
- Bone marrow(4.6)
- Nervous system(4.5)
- Kidney(2.6)
- Heart(2.2)
- Spleen(2.1)
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
-
OriGene qPCR primer pairs and template standards for EPOR
-
OriGene qPCR primer pairs for EPOR
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EPOR 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EPOR 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Epor 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Epor 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EPOR 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EPOR 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EPOR 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | epor 34 34 33 |
|
OneToMany |
- Species where no ortholog for EPOR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Paralogs for EPOR Gene
Variants for EPOR Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114645751 | likely-benign, Familial erythrocytosis | 11,381,839(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs121917830 | pathogenic, Familial erythrocytosis, 1 | 11,378,195(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained | |
| rs121917831 | affects, Familial erythrocytosis, 1 | 11,378,233(-) | G/A/C | coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant | |
| rs121918116 | pathogenic, affects, Familial erythrocytosis, 1 | 11,378,194(-) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs138190746 | likely-benign, Familial erythrocytosis | 11,378,113(-) | A/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPOR Gene
Disorders for EPOR Gene
(19) MalaCards diseases for EPOR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erythrocytosis, familial, 1 |
|
|
| primary polycythemia |
|
|
| polycythemia |
|
|
| acquired polycythemia |
|
|
| acquired gastric outlet stenosis |
|
|
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 increased serum red blood cell mass, 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 mutations affecting the gene represented in this entry.
Genatlas disease for EPOR Gene
erythrocytosis,primary familial polycythemia
Additional Disease Information for EPOR
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for EPOR Gene
- 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 58
- Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. (PMID: 8608241) Le Couedic JP … Vainchenker W (Blood 1996) 3 4 22 58
- Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways. (PMID: 7534299) Tauchi T … Broxmeyer HE (The Journal of biological chemistry 1995) 3 4 22 58
- Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (PMID: 8506290) de la Chapelle A … Juvonen E (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22 58
- RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development. (PMID: 25092874) Verma R … Wojchowski DM (The Journal of experimental medicine 2014) 3 4 58
Products for EPOR Gene
- R&D Systems Antibodies for EPOR (Erythropoietin R)
- R&D Systems Proteins and Enzymes for EPOR (Erythropoietin R)
- R&D Systems ELISAs and other biochemical assays for EPOR (Erythropoietin R)
- R&D Systems cDNA Clones for EPOR (Erythropoietin R)
- Browse Human Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for EPOR
- Browse OriGene ELISA Kits
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- 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
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- OriGene qPCR primer pairs and template standards for EPOR
- OriGene qPCR primer pairs for EPOR
- OriGene CRISPR knockouts for EPOR
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EPOR
- GenScript: Next-day shipping of latest version cDNA ORF clones for EPOR in any vector
- GenScript Custom Purified and Recombinant Proteins Services for EPOR
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- GenScript Custom overexpressing Cell Line Services for EPOR
- GenScript: Design CRISPR guide RNA sequences for EPOR
- Design optimal peptide antigens
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- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for EPOR
- Sino Biological Human cDNA Clone for EPOR
- Sino Biological Cell Lysates for EPOR
- Sino Biological Recombinant Proteins for EPOR
- Sino Biological Antibodies for EPOR
- Sino Biological Assays for EPOR
- Browse Sino Biological ELISA Kits
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for EPOR
- Novus Biologicals proteins and lysates for EPOR
- Novus Biologicals ELISA Kits for EPOR
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
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- 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
- VectorBuilder custom plasmid, inducible vectors for EPOR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EPOR
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 211 available EPOR Antibodies ranked by validation data
- Compare Top EPOR Antibodies
- Recommended
- 146 WB Antibodies (anti-human)
- 14 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 65 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 60 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Search results for 51 available EPOR Elisa Kits ranked by validation data
- Compare Top EPOR Elisa Kits
- antibodies-online: Search results for 28 available EPOR Proteins ranked by validation data
- Compare Top EPOR Proteins
- GeneTex EPOR Antibody for EPOR
- GeneTex Proteins for EPOR
- Santa Cruz Biotechnology (SCBT) Antibodies for EPOR
- Search Santa Cruz Biotechnology (SCBT) for EPOR siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPOR
- Custom Antibody ServicesProSci Antibodies for EPOR
- ProSci Proteins for EPOR
- Horizon Cell Lines for EPOR
- genomics-online: cdna clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- orf clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- genomics-online: gRNA clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- genomics-online: primer clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- genomics-online: shRNA clones - Search results for 111 available EPOR gene related products
- Overview of 111 available EPOR gene related products
- 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
- GeneCopoeia miRNA 3'UTR Target clone products for EPOR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOR
Sources for EPOR Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio