Details for: EPOR

Gene ID: 2057

Symbol: EPOR

Ensembl ID: ENSG00000187266

Description: erythropoietin receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.0492
    Cell Significance Index: -8.8900
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 21.8925
    Cell Significance Index: 9.9700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 21.1750
    Cell Significance Index: -8.6000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 20.0689
    Cell Significance Index: -9.4800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 18.7019
    Cell Significance Index: -9.6200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 9.0653
    Cell Significance Index: -8.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.5687
    Cell Significance Index: -4.4000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.0890
    Cell Significance Index: -8.2800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.3943
    Cell Significance Index: 64.1600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.3543
    Cell Significance Index: -9.2900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.1700
    Cell Significance Index: -6.6700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.8588
    Cell Significance Index: 30.6300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.5984
    Cell Significance Index: 4.8800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4536
    Cell Significance Index: 52.8600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4146
    Cell Significance Index: 374.3700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.3649
    Cell Significance Index: 3.0700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2919
    Cell Significance Index: 13.2300
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.2894
    Cell Significance Index: 2.2900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2761
    Cell Significance Index: 44.9100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2733
    Cell Significance Index: 5.8200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2281
    Cell Significance Index: 24.8100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1903
    Cell Significance Index: 18.8200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1835
    Cell Significance Index: 36.4300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1537
    Cell Significance Index: 19.7000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1066
    Cell Significance Index: 20.2800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1017
    Cell Significance Index: 5.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0988
    Cell Significance Index: 6.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0981
    Cell Significance Index: 53.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0844
    Cell Significance Index: 11.5900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0811
    Cell Significance Index: 4.2600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0758
    Cell Significance Index: 4.5500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0710
    Cell Significance Index: 133.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0643
    Cell Significance Index: 4.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0550
    Cell Significance Index: 9.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0526
    Cell Significance Index: 10.5600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0497
    Cell Significance Index: 0.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0411
    Cell Significance Index: 1.1200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0344
    Cell Significance Index: 0.9900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0316
    Cell Significance Index: 3.6100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0273
    Cell Significance Index: 17.3100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0266
    Cell Significance Index: 0.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0245
    Cell Significance Index: 4.1800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0219
    Cell Significance Index: 1.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0166
    Cell Significance Index: 5.9600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0159
    Cell Significance Index: 0.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0156
    Cell Significance Index: 23.9800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0132
    Cell Significance Index: 0.3300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0043
    Cell Significance Index: 7.8500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0023
    Cell Significance Index: 1.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0001
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0003
    Cell Significance Index: -0.2500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0005
    Cell Significance Index: -0.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0027
    Cell Significance Index: -2.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0036
    Cell Significance Index: -2.2600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0042
    Cell Significance Index: -5.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0071
    Cell Significance Index: -2.0300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0077
    Cell Significance Index: -3.4000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0080
    Cell Significance Index: -1.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0100
    Cell Significance Index: -1.1800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0103
    Cell Significance Index: -5.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0160
    Cell Significance Index: -7.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0167
    Cell Significance Index: -1.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0170
    Cell Significance Index: -1.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0175
    Cell Significance Index: -2.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0180
    Cell Significance Index: -2.2100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0212
    Cell Significance Index: -4.4700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0344
    Cell Significance Index: -0.9600
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: -0.0519
    Cell Significance Index: -0.5200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0520
    Cell Significance Index: -0.8700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0628
    Cell Significance Index: -8.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0683
    Cell Significance Index: -4.1900
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0715
    Cell Significance Index: -0.5500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0786
    Cell Significance Index: -8.1800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0812
    Cell Significance Index: -6.0500
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.0884
    Cell Significance Index: -0.8400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0900
    Cell Significance Index: -5.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0906
    Cell Significance Index: -4.2600
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0919
    Cell Significance Index: -1.0400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0923
    Cell Significance Index: -2.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0943
    Cell Significance Index: -6.6700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0987
    Cell Significance Index: -2.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1075
    Cell Significance Index: -7.2300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1107
    Cell Significance Index: -1.5900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1126
    Cell Significance Index: -8.9200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1127
    Cell Significance Index: -3.6100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1239
    Cell Significance Index: -1.7600
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.1275
    Cell Significance Index: -0.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1338
    Cell Significance Index: -7.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1371
    Cell Significance Index: -2.3500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1418
    Cell Significance Index: -9.1500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1421
    Cell Significance Index: -7.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1492
    Cell Significance Index: -6.6000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1668
    Cell Significance Index: -8.4300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1691
    Cell Significance Index: -3.5400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1694
    Cell Significance Index: -3.5200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1712
    Cell Significance Index: -4.4000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1712
    Cell Significance Index: -7.0100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1726
    Cell Significance Index: -4.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1741
    Cell Significance Index: -4.6500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1748
    Cell Significance Index: -5.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** EPOR is a type I transmembrane receptor, consisting of an extracellular domain, a transmembrane domain, and a cytoplasmic domain. The extracellular domain binds to EPO, triggering a cascade of signaling events that ultimately lead to the activation of downstream pathways. The cytoplasmic domain contains a tyrosine kinase domain, which phosphorylates and activates various substrates, including STAT5, a transcription factor that regulates gene expression. EPOR is also associated with other signaling pathways, including the PI3K and Ras/MAPK pathways, which contribute to its pleiotropic effects. **Pathways and Functions:** EPOR is involved in several key signaling pathways, including: 1. **Erythropoietin-mediated signaling pathway:** EPOR mediates the biological effects of EPO, promoting the proliferation and differentiation of erythroid progenitor cells. 2. **Cytokine-mediated signaling pathway:** EPOR is activated by various cytokines, including EPO, IL-2, and IL-6, leading to the activation of downstream pathways and the regulation of cell proliferation and differentiation. 3. **Brain development and function:** EPOR is expressed in the brain, where it regulates the development and function of neurons, particularly GABAergic interneurons. 4. **Heart development:** EPOR is involved in the development of the heart, where it regulates the proliferation and differentiation of cardiac progenitor cells. **Clinical Significance:** Dysregulation of EPOR has been implicated in various diseases, including: 1. **Anemia:** Mutations in the EPOR gene have been associated with anemia, a condition characterized by a deficiency in red blood cells. 2. **Erythropoietic disorders:** EPOR dysregulation has been implicated in erythropoietic disorders, such as polycythemia vera and essential thrombocytosis. 3. **Cancer:** EPOR is overexpressed in various types of cancer, including leukemia and lymphoma, where it contributes to tumor growth and progression. 4. **Neurological disorders:** EPOR dysregulation has been implicated in neurological disorders, such as schizophrenia and autism spectrum disorder. In conclusion, the erythropoietin receptor (EPOR) is a critical component of various signaling pathways, regulating cell proliferation, development, and function. Its dysregulation has been implicated in various diseases, highlighting the importance of EPOR in maintaining normal physiology and preventing disease. Further research is needed to fully elucidate the functions of EPOR and its role in human disease.

Genular Protein ID: 1519990665

Symbol: EPOR_HUMAN

Name: N/A

UniProtKB Accession Codes:

P19235 B2RCG4 Q15443 Q2M205

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 ELM 1 EMBL 9 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 19 PIR 2 PIRSF 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 5 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2163695

Title: The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p.

PubMed ID: 2163695

PubMed ID: 2163696

Title: Human erythropoietin receptor: cloning, expression, and biologic characterization.

PubMed ID: 2163696

PubMed ID: 1668606

Title: Cloning of the human erythropoietin receptor gene.

PubMed ID: 1668606

PubMed ID: 1654273

Title: The erythropoietin receptor gene: cloning and identification of multiple transcripts in an erythroid cell line OCIM1.

PubMed ID: 1654273

PubMed ID: 1324524

Title: A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells.

PubMed ID: 1324524

DOI: 10.1126/science.257.5073.1138

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1668607

Title: Cloning of the gene encoding the human erythropoietin receptor.

PubMed ID: 1668607

PubMed ID: 1664413

Title: Genomic organization of the human erythropoietin receptor gene.

PubMed ID: 1664413

DOI: 10.1016/0888-7543(91)90022-7

PubMed ID: 1657727

Title: Isolation of a cDNA encoding a potential soluble receptor for human erythropoietin.

PubMed ID: 1657727

DOI: 10.1016/0378-1119(91)90213-u

PubMed ID: 11756159

Title: Identification of the human erythropoietin receptor region required for Stat1 and Stat3 activation.

PubMed ID: 11756159

DOI: 10.1182/blood.v99.1.102

PubMed ID: 7534299

Title: Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways.

PubMed ID: 7534299

DOI: 10.1074/jbc.270.10.5631

PubMed ID: 8662939

Title: Identification of a critical ligand binding determinant of the human erythropoietin receptor. Evidence for common ligand binding motifs in the cytokine receptor family.

PubMed ID: 8662939

DOI: 10.1074/jbc.271.24.14045

PubMed ID: 11722595

Title: Increased cell surface expression of C-terminal truncated erythropoietin receptors in polycythemia.

PubMed ID: 11722595

DOI: 10.1034/j.1600-0609.2001.t01-1-00446.x

PubMed ID: 11781573

Title: Design and application of a cytokine-receptor-based interaction trap.

PubMed ID: 11781573

DOI: 10.1038/ncb1201-1114

PubMed ID: 12027890

Title: A new high affinity binding site for suppressor of cytokine signaling-3 on the erythropoietin receptor.

PubMed ID: 12027890

DOI: 10.1046/j.1432-1033.2002.02916.x

PubMed ID: 12746455

Title: Erythropoietin receptors associate with a ubiquitin ligase, p33RUL, and require its activity for erythropoietin-induced proliferation.

PubMed ID: 12746455

DOI: 10.1074/jbc.m210039200

PubMed ID: 10374881

Title: APS, an adaptor protein containing pleckstrin homology (PH) and Src homology-2 (SH2) domains inhibits the JAK-STAT pathway in collaboration with c-Cbl.

PubMed ID: 10374881

DOI: 10.1038/sj.leu.2401397

PubMed ID: 11784712

Title: Cloning and characterization of a family of proteins associated with Mpl.

PubMed ID: 11784712

DOI: 10.1074/jbc.m105970200

PubMed ID: 25092874

Title: RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development.

PubMed ID: 25092874

DOI: 10.1084/jem.20130624

PubMed ID: 8662530

Title: Functional mimicry of a protein hormone by a peptide agonist: the EPO receptor complex at 2.8 A.

PubMed ID: 8662530

DOI: 10.1126/science.273.5274.464

PubMed ID: 9808045

Title: An antagonist peptide-EPO receptor complex suggests that receptor dimerization is not sufficient for activation.

PubMed ID: 9808045

DOI: 10.1038/2965

PubMed ID: 9774108

Title: Efficiency of signalling through cytokine receptors depends critically on receptor orientation.

PubMed ID: 9774108

DOI: 10.1038/26773

PubMed ID: 10388848

Title: Engineering a soluble extracellular erythropoietin receptor (EPObp) in Pichia pastoris to eliminate microheterogeneity, and its complex with erythropoietin.

PubMed ID: 10388848

DOI: 10.1093/protein/12.6.505

PubMed ID: 9974392

Title: Crystallographic evidence for preformed dimers of erythropoietin receptor before ligand activation.

PubMed ID: 9974392

DOI: 10.1126/science.283.5404.987

PubMed ID: 31182716

Title: Structural insights into substrate recognition by the SOCS2 E3 ubiquitin ligase.

PubMed ID: 31182716

DOI: 10.1038/s41467-019-10190-4

PubMed ID: 8506290

Title: Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.

PubMed ID: 8506290

DOI: 10.1073/pnas.90.10.4495

PubMed ID: 8174675

Title: Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia.

PubMed ID: 8174675

PubMed ID: 8608241

Title: Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.

PubMed ID: 8608241

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 508
  • Mass: 55065
  • Checksum: F9F326E162E9512A
  • Sequence:
    • MDHLGASLWP QVGSLCLLLA GAAWAPPPNL PDPKFESKAA LLAARGPEEL LCFTERLEDL 
VCFWEEAASA GVGPGNYSFS YQLEDEPWKL CRLHQAPTAR GAVRFWCSLP TADTSSFVPL 
ELRVTAASGA PRYHRVIHIN EVVLLDAPVG LVARLADESG HVVLRWLPPP ETPMTSHIRY 
EVDVSAGNGA GSVQRVEILE GRTECVLSNL RGRTRYTFAV RARMAEPSFG GFWSAWSEPV 
SLLTPSDLDP LILTLSLILV VILVLLTVLA LLSHRRALKQ KIWPGIPSPE SEFEGLFTTH 
KGNFQLWLYQ NDGCLWWSPC TPFTEDPPAS LEVLSERCWG TMQAVEPGTD DEGPLLEPVG 
SEHAQDTYLV LDKWLLPRNP PSEDLPGPGG SVDIVAMDEG SEASSCSSAL ASKPSPEGAS 
AASFEYTILD PSSQLLRPWT LCPELPPTPP HLKYLYLVVS DSGISTDYSS GDSQGAQGGL 
SDGPYSNPYE NSLIPAAEPL PPSYVACS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.