EPO (erythropoietin) - Rat Genome Database

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Gene: EPO (erythropoietin) Homo sapiens
Analyze
Symbol: EPO
Name: erythropoietin
RGD ID: 735849
HGNC Page HGNC
Description: Exhibits cytokine activity and erythropoietin receptor binding activity. Involved in several processes, including negative regulation of apoptotic process; negative regulation of ion transport; and regulation of transcription, DNA-templated. Localizes to cell surface and extracellular space. Implicated in several diseases, including artery disease (multiple); diabetic angiopathy; familial erythrocytosis 5; ischemia (multiple); and neurodegenerative disease (multiple). Biomarker of amyotrophic lateral sclerosis; anemia; breast cancer; eye disease (multiple); and glucose metabolism disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DBAL; ECYT5; EP; epoetin; MGC138142; MVCD2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7100,720,468 - 100,723,700 (+)EnsemblGRCh38hg38GRCh38
GRCh387100,720,468 - 100,723,700 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377100,318,091 - 100,321,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,156,359 - 100,159,259 (+)NCBINCBI36hg18NCBI36
Build 34799,963,073 - 99,965,972NCBI
Celera795,048,997 - 95,051,893 (+)NCBI
Cytogenetic Map7q22.1NCBI
HuRef794,949,230 - 94,952,126 (+)NCBIHuRef
CHM1_17100,248,723 - 100,251,623 (+)NCBICHM1_1
CRA_TCAGchr7v2799,678,028 - 99,680,928 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP,IDA)
Acute-Phase Reaction  (ISO)
AIDS Dementia Complex  (IDA)
Albuminuria  (IEP)
Alzheimer's disease  (IDA)
amyotrophic lateral sclerosis  (IEP)
Anastomotic Leak  (IDA)
anemia  (EXP,IEP)
beta thalassemia  (EXP)
Brain Hypoxia  (IDA)
Brain Injuries  (EXP,IDA,ISO)
breast cancer  (IEP)
calcinosis  (EXP)
Cardiogenic Shock  (EXP)
cardiomyopathy  (EXP)
central nervous system disease  (EXP)
cholangiocarcinoma  (ISO)
cognitive disorder  (EXP)
congenital diaphragmatic hernia  (EXP)
congestive heart failure  (IDA)
coronary artery disease  (EXP)
diabetic angiopathy  (IAGP)
Diabetic Nephropathies  (IAGP,IDA,IEP)
diabetic neuropathy  (IMP)
diabetic retinopathy  (IAGP,IDA,IEP,IMP)
Diamond-Blackfan Anemia-Like  (IAGP)
end stage renal disease  (EXP)
Endotoxemia  (IDA)
Experimental Autoimmune Encephalomyelitis  (EXP)
Experimental Autoimmune Neuritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Sarcoma  (EXP)
familial erythrocytosis 5  (IAGP)
Fatigue  (EXP)
Fetal Distress  (ISO)
gastric ulcer  (EXP)
glaucoma  (IDA,IEP,ISO)
heart disease  (EXP)
hemolytic anemia  (EXP)
hemolytic-uremic syndrome  (EXP)
Hemorrhagic Shock  (IDA)
high grade glioma  (IMP)
hypertension  (EXP)
hypoglycemia  (IEP)
Hypoxia-Ischemia, Brain  (IDA,ISO)
Inflammation  (EXP)
kidney disease  (EXP)
kidney failure  (EXP)
Kidney Reperfusion Injury  (IDA)
Knee Osteoarthritis  (IDA)
Limb Ischemia  (IDA)
Liver Reperfusion Injury  (IDA)
macular retinal edema  (IEP)
Mammary Neoplasms, Experimental  (ISO)
melanoma  (EXP)
Micronuclei, Chromosome-Defective  (EXP)
middle cerebral artery infarction  (IDA,IMP)
myelodysplastic syndrome  (EXP)
myocardial infarction  (EXP,IDA)
Necrosis  (IDA)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (EXP)
nephrotic syndrome  (IDA)
Nerve Degeneration  (EXP)
neurodegenerative disease  (EXP,IDA)
pancytopenia  (EXP)
Paraneoplastic Syndromes  (EXP)
Parkinson's disease  (IMP)
placental insufficiency  (IDA)
pleomorphic xanthoastrocytoma  (IAGP)
Poisoning  (EXP)
polyneuropathy  (EXP)
porphyria  (IDA)
Pregnancy Complications  (IEP)
pulmonary embolism  (EXP)
pulmonary hypertension  (IDA)
retinal degeneration  (ISO)
retinal detachment  (ISO)
retinopathy of prematurity  (ISO)
severe combined immunodeficiency  (ISO)
Spinal Cord Compression  (ISO)
Spinal Cord Injuries  (IDA)
status epilepticus  (EXP)
Subarachnoid Hemorrhage  (IDA)
Subdural Hematoma, Acute  (IDA)
thrombocytopenia  (EXP)
thrombosis  (EXP)
Thyroid Neoplasms  (EXP)
transient cerebral ischemia  (IDA,ISO)
Tubulointerstitial Fibrosis  (IDA)
type 2 diabetes mellitus  (IEP)
uremia  (EXP)
vascular dementia  (ISO)
vascular disease  (EXP)
Venous Thrombosis  (EXP)
Ventricular Fibrillation  (EXP)
ventricular septal defect  (EXP)
Ventricular Tachycardia  (EXP)
visual epilepsy  (ISO)
Weight Loss  (EXP)
Wounds, Penetrating  (IDA)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(R)-noradrenaline  (ISO)
(S)-nicotine  (EXP)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
1H-indole  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxy-17beta-estradiol  (ISO)
2-naphthylamine  (EXP)
3',5'-cyclic AMP  (ISO)
3',5'-cyclic GMP  (ISO)
3,4-dihydroxybenzoic acid  (ISO)
5,6,7,8-tetrahydrobiopterin  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-chloro-7-iodoquinolin-8-ol  (EXP)
5-fluorouracil  (EXP,ISO)
7,12-dimethyltetraphene  (EXP)
acetylcholine  (ISO)
Actein  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (EXP,ISO)
amitrole  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP,ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP)
BQ 123  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calycosin  (EXP)
calycosin-7-O-beta-D-glucoside  (EXP)
carbamazepine  (EXP)
carbon monoxide  (ISO)
carboplatin  (ISO)
ceftriaxone  (ISO)
cisplatin  (EXP,ISO)
cobalt atom  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
curcumin  (EXP)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cytochalasin B  (EXP)
D-glucose  (EXP)
dacarbazine  (EXP)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (EXP)
desferrioxamine B  (EXP,ISO)
dexamethasone  (EXP)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
Dihydrotanshinone I  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP)
enalapril  (EXP,ISO)
etoposide  (EXP)
fenoterol  (EXP)
formaldehyde  (ISO)
formononetin  (EXP)
gentamycin  (ISO)
glucose  (EXP)
glutathione  (EXP,ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroxyurea  (EXP)
indometacin  (ISO)
indoxyl sulfate  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
iron(III) citrate  (EXP)
kainic acid  (EXP)
ketoconazole  (EXP)
L-erythro-7,8-dihydrobiopterin  (ISO)
lipopolysaccharide  (ISO)
LY294002  (EXP,ISO)
malonaldehyde  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
menadione  (EXP)
mercury dichloride  (EXP)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
neopterin  (ISO)
nicotine  (EXP)
nitric oxide  (ISO)
nitrites  (EXP)
nitrofen  (ISO)
nitroprusside  (EXP)
Nonidet P-40  (EXP)
ochratoxin A  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
pirinixic acid  (ISO)
pyrogallol  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP)
ribavirin  (EXP)
salubrinal  (EXP)
sapropterin  (EXP,ISO)
simvastatin  (ISO)
sodium stibogluconate  (EXP)
staurosporine  (ISO)
streptozocin  (ISO)
superoxide  (ISO)
testosterone  (EXP)
triptonide  (ISO)
urethane  (EXP)
zidovudine  (EXP,ISO)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase activity  (IEA)
acute-phase response  (IEA,ISO)
aging  (IEA,ISO)
apoptotic process  (IEA,ISO)
blood circulation  (NAS)
cellular hyperosmotic response  (IDA)
embryo implantation  (IEA,ISO)
erythrocyte differentiation  (IDA,IMP,ISO)
erythrocyte maturation  (IEA)
erythropoietin-mediated signaling pathway  (IBA,IMP)
hemoglobin biosynthetic process  (IEA,ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of calcium ion transport into cytosol  (IDA)
negative regulation of cation channel activity  (IDA)
negative regulation of erythrocyte apoptotic process  (IDA)
negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress  (IDA)
negative regulation of myeloid cell apoptotic process  (ISO)
negative regulation of neuron death  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IMP)
peptidyl-serine phosphorylation  (IEA)
positive regulation of activated T cell proliferation  (IEA,ISO)
positive regulation of cell population proliferation  (IBA,IDA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of neuron differentiation  (IEA,ISO)
positive regulation of neuron projection development  (IEA,ISO)
positive regulation of phosphatidylinositol 3-kinase signaling  (TAS)
positive regulation of protein kinase activity  (ISO)
positive regulation of Ras protein signal transduction  (IBA,IDA,TAS)
positive regulation of transcription, DNA-templated  (IDA)
positive regulation of tyrosine phosphorylation of STAT protein  (IDA)
regulation of transcription by RNA polymerase II  (ISO)
regulation of transcription from RNA polymerase II promoter in response to hypoxia  (TAS)
response to axon injury  (IEA,ISO)
response to dexamethasone  (IEA,ISO)
response to electrical stimulus  (IEA,ISO)
response to estrogen  (IEA,ISO)
response to hyperoxia  (IEA,ISO)
response to hypoxia  (ISO)
response to interleukin-1  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to nutrient  (ISO)
response to salt stress  (IEA,ISO)
response to testosterone  (IEA,ISO)
response to vitamin A  (IEA,ISO)
signal transduction  (NAS)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
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Additional References at PubMed
PMID:1820196   PMID:2849206   PMID:2875851   PMID:3219367   PMID:3346214   PMID:3462706   PMID:3462737   PMID:3838366   PMID:3865178   PMID:3949763   PMID:6698989   PMID:7505116  
PMID:8396923   PMID:9113979   PMID:9539790   PMID:9722506   PMID:9774108   PMID:9799793   PMID:9808045   PMID:9847074   PMID:10318834   PMID:10984541   PMID:11239002   PMID:11259643  
PMID:11305874   PMID:11306706   PMID:11493922   PMID:11532856   PMID:11782478   PMID:11854521   PMID:11861258   PMID:11865075   PMID:11869305   PMID:11906321   PMID:11906322   PMID:11919332  
PMID:11920206   PMID:11994541   PMID:12068288   PMID:12082184   PMID:12091337   PMID:12130665   PMID:12171772   PMID:12187026   PMID:12192960   PMID:12207089   PMID:12212844   PMID:12239177  
PMID:12362243   PMID:12381912   PMID:12419827   PMID:12463751   PMID:12476588   PMID:12477932   PMID:12477950   PMID:12482504   PMID:12525458   PMID:12734640   PMID:12759237   PMID:12801298  
PMID:12829027   PMID:12853948   PMID:12937140   PMID:12960323   PMID:12975460   PMID:14569084   PMID:14583613   PMID:14584755   PMID:14671634   PMID:14704034   PMID:14718663   PMID:14724429  
PMID:14747752   PMID:14755373   PMID:14990112   PMID:15019812   PMID:15053948   PMID:15073510   PMID:15084469   PMID:15112358   PMID:15142852   PMID:15160341   PMID:15183662   PMID:15205261  
PMID:15210945   PMID:15240563   PMID:15257091   PMID:15339684   PMID:15347669   PMID:15358619   PMID:15363820   PMID:15389732   PMID:15467711   PMID:15489334   PMID:15590452   PMID:15627795  
PMID:15671524   PMID:15674338   PMID:15705187   PMID:15709164   PMID:15709172   PMID:15718359   PMID:15728783   PMID:15743794   PMID:15769989   PMID:15777837   PMID:15795697   PMID:15856028  
PMID:15967106   PMID:15988318   PMID:15993382   PMID:16123502   PMID:16229477   PMID:16278379   PMID:16286456   PMID:16332412   PMID:16467207   PMID:16475009   PMID:16497104   PMID:16627979  
PMID:16645141   PMID:16684536   PMID:16699298   PMID:16838166   PMID:16883594   PMID:16909043   PMID:17045782   PMID:17081058   PMID:17145806   PMID:17327410   PMID:17353931   PMID:17360900  
PMID:17372034   PMID:17389738   PMID:17395782   PMID:17442163   PMID:17467346   PMID:17481772   PMID:17540710   PMID:17577097   PMID:17597020   PMID:17615151   PMID:17636183   PMID:17645631  
PMID:17647284   PMID:17652365   PMID:17713555   PMID:17873970   PMID:17888545   PMID:17893874   PMID:17893875   PMID:17952604   PMID:17984928   PMID:18074690   PMID:18086112   PMID:18091448  
PMID:18160550   PMID:18189270   PMID:18201556   PMID:18219110   PMID:18259195   PMID:18276585   PMID:18278456   PMID:18332162   PMID:18356745   PMID:18399174   PMID:18414140   PMID:18479804  
PMID:18533563   PMID:18544472   PMID:18586515   PMID:18722069   PMID:18787502   PMID:18922618   PMID:18928604   PMID:19027957   PMID:19042077   PMID:19070519   PMID:19074769   PMID:19136057  
PMID:19165176   PMID:19269703   PMID:19321698   PMID:19339771   PMID:19375647   PMID:19375648   PMID:19463769   PMID:19515792   PMID:19602911   PMID:19690392   PMID:19766721   PMID:19804771  
PMID:19862010   PMID:19890342   PMID:19901910   PMID:19913121   PMID:19930602   PMID:19932158   PMID:19955699   PMID:20012656   PMID:20065225   PMID:20091055   PMID:20104680   PMID:20164027  
PMID:20179983   PMID:20228410   PMID:20237496   PMID:20353997   PMID:20368990   PMID:20395592   PMID:20566589   PMID:20614229   PMID:20628086   PMID:20729740   PMID:20804540   PMID:20862521  
PMID:20873225   PMID:20937006   PMID:20937240   PMID:20947680   PMID:20966191   PMID:20979939   PMID:21033220   PMID:21042786   PMID:21067572   PMID:21078205   PMID:21092038   PMID:21162115  
PMID:21294852   PMID:21317243   PMID:21321940   PMID:21334436   PMID:21535154   PMID:21619451   PMID:21623073   PMID:21683736   PMID:21734083   PMID:21757714   PMID:21807323   PMID:21839094  
PMID:21847101   PMID:21873635   PMID:21894032   PMID:21898543   PMID:21912181   PMID:21912616   PMID:21926963   PMID:21988832   PMID:22021095   PMID:22025882   PMID:22135724   PMID:22167324  
PMID:22351476   PMID:22388478   PMID:22406924   PMID:22545469   PMID:22623897   PMID:22626952   PMID:22669473   PMID:22768976   PMID:22773876   PMID:22843933   PMID:23016887   PMID:23027039  
PMID:23028796   PMID:23128233   PMID:23141213   PMID:23142128   PMID:23142458   PMID:23142737   PMID:23158995   PMID:23180434   PMID:23227493   PMID:23242184   PMID:23313788   PMID:23327923  
PMID:23337206   PMID:23393065   PMID:23401418   PMID:23403324   PMID:23457296   PMID:23525596   PMID:23535151   PMID:23647063   PMID:23661806   PMID:23670359   PMID:23672497   PMID:23733688  
PMID:23773177   PMID:23780896   PMID:23788583   PMID:23817218   PMID:23881169   PMID:23894012   PMID:23991099   PMID:24052411   PMID:24100272   PMID:24144060   PMID:24165569   PMID:24177168  
PMID:24296452   PMID:24307517   PMID:24377712   PMID:24412408   PMID:24504226   PMID:24647661   PMID:24677652   PMID:24796745   PMID:24821155   PMID:24832733   PMID:24896364   PMID:24907467  
PMID:25018619   PMID:25022958   PMID:25058943   PMID:25084697   PMID:25175278   PMID:25194345   PMID:25227310   PMID:25405915   PMID:25477265   PMID:25628168   PMID:25630969   PMID:25656761  
PMID:25675872   PMID:25724399   PMID:25786542   PMID:25793991   PMID:25887776   PMID:25966953   PMID:26012423   PMID:26049959   PMID:26097591   PMID:26261574   PMID:26412593   PMID:26447159  
PMID:26469975   PMID:26479890   PMID:26481148   PMID:26721912   PMID:26747131   PMID:26822707   PMID:26838000   PMID:26880412   PMID:26919105   PMID:26919118   PMID:26924722   PMID:26995951  
PMID:27081163   PMID:27086036   PMID:27161360   PMID:27169519   PMID:27190272   PMID:27208431   PMID:27266727   PMID:27282568   PMID:27434124   PMID:27441662   PMID:27468719   PMID:27477940  
PMID:27543111   PMID:27686097   PMID:27853265   PMID:27865586   PMID:27902983   PMID:27981303   PMID:28038963   PMID:28131718   PMID:28168382   PMID:28173069   PMID:28247960   PMID:28283061  
PMID:28514442   PMID:28553927   PMID:28603097   PMID:28857467   PMID:28885393   PMID:28983059   PMID:29073196   PMID:29080630   PMID:29220591   PMID:29269524   PMID:29389768   PMID:29395333  
PMID:29514032   PMID:29655605   PMID:29731355   PMID:29997244   PMID:30089456   PMID:30366982   PMID:30381499   PMID:30507031   PMID:30522768   PMID:30700319   PMID:30821129   PMID:30915348  
PMID:30941747   PMID:31004564   PMID:31013255   PMID:31170159   PMID:31316151   PMID:31345155   PMID:31525610   PMID:31612832   PMID:31799636   PMID:31831169   PMID:32009627   PMID:32414157  
PMID:32438783   PMID:33122796  


Genomics

Comparative Map Data
EPO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7100,720,468 - 100,723,700 (+)EnsemblGRCh38hg38GRCh38
GRCh387100,720,468 - 100,723,700 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377100,318,091 - 100,321,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,156,359 - 100,159,259 (+)NCBINCBI36hg18NCBI36
Build 34799,963,073 - 99,965,972NCBI
Celera795,048,997 - 95,051,893 (+)NCBI
Cytogenetic Map7q22.1NCBI
HuRef794,949,230 - 94,952,126 (+)NCBIHuRef
CHM1_17100,248,723 - 100,251,623 (+)NCBICHM1_1
CRA_TCAGchr7v2799,678,028 - 99,680,928 (+)NCBI
Epo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395137,481,282 - 137,484,078 (-)NCBIGRCm39mm39
GRCm39 Ensembl5137,481,282 - 137,531,504 (-)Ensembl
GRCm385137,483,020 - 137,485,816 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5137,483,020 - 137,533,242 (-)EnsemblGRCm38mm10GRCm38
MGSCv375137,924,248 - 137,927,044 (-)NCBIGRCm37mm9NCBIm37
MGSCv365137,712,873 - 137,715,533 (-)NCBImm8
Celera5134,466,358 - 134,469,154 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map576.5NCBI
Epo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21219,204,258 - 19,207,948 (+)NCBI
Rnor_6.0 Ensembl1222,274,828 - 22,278,266 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01222,274,828 - 22,278,268 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01224,291,481 - 24,294,921 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41219,551,768 - 19,555,208 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11219,541,291 - 19,544,730 (-)NCBI
Celera1221,009,353 - 21,012,793 (+)NCBICelera
Cytogenetic Map12q12NCBI
Epo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955573203,441 - 206,355 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955573203,875 - 206,078 (-)NCBIChiLan1.0ChiLan1.0
EPO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17106,148,062 - 106,150,974 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7106,148,062 - 106,150,974 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0792,747,671 - 92,750,886 (+)NCBIMhudiblu_PPA_v0panPan3
EPO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.168,994,211 - 8,995,954 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl68,994,211 - 8,996,144 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha610,698,441 - 10,700,425 (-)NCBI
ROS_Cfam_1.068,928,384 - 8,930,368 (-)NCBI
UMICH_Zoey_3.168,780,936 - 8,782,920 (-)NCBI
UNSW_CanFamBas_1.068,759,117 - 8,761,101 (-)NCBI
UU_Cfam_GSD_1.068,940,837 - 8,942,821 (-)NCBI
Epo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,290,130 - 133,295,627 (-)NCBI
SpeTri2.0NW_004936543742,722 - 745,332 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl38,620,508 - 8,622,936 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.138,620,508 - 8,622,936 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.238,014,859 - 8,017,287 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPO
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12812,487,222 - 12,491,986 (-)NCBI
ChlSab1.1 Ensembl2812,489,766 - 12,491,908 (-)Ensembl

Position Markers
GDB:178386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,319,762 - 100,320,198UniSTSGRCh37
Build 367100,157,698 - 100,158,134RGDNCBI36
Celera795,050,336 - 95,050,768RGD
Cytogenetic Map7q22UniSTS
HuRef794,950,569 - 94,951,001UniSTS
CRA_TCAGchr7v2799,679,367 - 99,679,803UniSTS
EPO  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,319,637 - 100,319,752UniSTSGRCh37
GRCh377100,319,257 - 100,319,668UniSTSGRCh37
Build 367100,157,193 - 100,157,604RGDNCBI36
Celera795,049,831 - 95,050,242RGD
Celera795,050,211 - 95,050,326UniSTS
Cytogenetic Map7q22UniSTS
HuRef794,950,444 - 94,950,559UniSTS
HuRef794,950,064 - 94,950,475UniSTS
CRA_TCAGchr7v2799,678,862 - 99,679,273UniSTS
CRA_TCAGchr7v2799,679,242 - 99,679,357UniSTS
SHGC-12325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,320,788 - 100,321,117UniSTSGRCh37
Build 367100,158,724 - 100,159,053RGDNCBI36
Celera795,051,358 - 95,051,687RGD
Cytogenetic Map7q22UniSTS
HuRef794,951,591 - 94,951,920UniSTS
CRA_TCAGchr7v2799,680,393 - 99,680,722UniSTS
Stanford-G3 RH Map74769.0UniSTS
GeneMap99-G3 RH Map74769.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:413
Count of miRNA genes:277
Interacting mature miRNAs:292
Transcripts:ENST00000252723
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 3 163 163 1 163 1 33 13 1 1
Low 148 138 256 347 90 225 1387 99 666 117 884 95 125 59 827 1
Below cutoff 1942 2114 1044 88 1181 52 2358 1428 2756 184 486 1215 46 1 1029 1440 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF202311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN849371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF170813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF178447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S65458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252723   ⟹   ENSP00000252723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7100,720,468 - 100,723,700 (+)Ensembl
RefSeq Acc Id: NM_000799   ⟹   NP_000790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,720,468 - 100,723,700 (+)NCBI
GRCh377100,318,423 - 100,321,323 (+)NCBI
Build 367100,156,359 - 100,159,259 (+)NCBI Archive
HuRef794,949,230 - 94,952,126 (+)ENTREZGENE
CHM1_17100,248,723 - 100,251,623 (+)NCBI
CRA_TCAGchr7v2799,678,028 - 99,680,928 (+)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000790   ⟸   NM_000799
- Peptide Label: precursor
- UniProtKB: P01588 (UniProtKB/Swiss-Prot),   G9JKG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252723   ⟸   ENST00000252723

Promoters
RGD ID:7211409
Promoter ID:EPDNEW_H11451
Type:initiation region
Name:EPO_1
Description:erythropoietin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,720,772 - 100,720,832EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000799.3(EPO):c.-1306C>A single nucleotide variant Microvascular complications of diabetes 2 [RCV000018073] Chr7:100719675 [GRCh38]
Chr7:100317298 [GRCh37]
Chr7:7q22.1
risk factor
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1
pathogenic
GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 copy number loss See cases [RCV000054154] Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1
pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 copy number loss See cases [RCV000054155] Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1
pathogenic|uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000799.4(EPO):c.530G>A (p.Arg177Gln) single nucleotide variant Diamond-Blackfan anemia-like [RCV000590853] Chr7:100723081 [GRCh38]
Chr7:100320704 [GRCh37]
Chr7:7q22.1
pathogenic
NM_000799.4(EPO):c.33del (p.Trp11fs) deletion Erythrocytosis, familial, 5 [RCV000590858] Chr7:100721576 [GRCh38]
Chr7:100319199 [GRCh37]
Chr7:7q22.1
pathogenic
NM_000799.4(EPO):c.20del (p.Pro7fs) deletion Erythrocytosis, familial, 5 [RCV000590862] Chr7:100721563 [GRCh38]
Chr7:100319186 [GRCh37]
Chr7:7q22.1
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:100141861-100552714)x1 copy number loss not provided [RCV000746918] Chr7:100141861..100552714 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.108C>T (p.Ser36=) single nucleotide variant not provided [RCV000963639] Chr7:100721652 [GRCh38]
Chr7:100319275 [GRCh37]
Chr7:7q22.1
benign
NM_000799.4(EPO):c.453G>A (p.Ala151=) single nucleotide variant not provided [RCV000964479] Chr7:100723004 [GRCh38]
Chr7:100320627 [GRCh37]
Chr7:7q22.1
benign
NM_000799.4(EPO):c.427-9C>T single nucleotide variant not provided [RCV000937201] Chr7:100722969 [GRCh38]
Chr7:100320592 [GRCh37]
Chr7:7q22.1
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000799.4(EPO):c.459A>G (p.Ser153=) single nucleotide variant not provided [RCV000916800] Chr7:100723010 [GRCh38]
Chr7:100320633 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.147C>G (p.Ala49=) single nucleotide variant not provided [RCV000979623] Chr7:100721691 [GRCh38]
Chr7:100319314 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.341C>T (p.Pro114Leu) single nucleotide variant not provided [RCV000953740] Chr7:100722758 [GRCh38]
Chr7:100320381 [GRCh37]
Chr7:7q22.1
benign
NM_000799.4(EPO):c.13+10C>T single nucleotide variant not provided [RCV000915810] Chr7:100721003 [GRCh38]
Chr7:100318626 [GRCh37]
Chr7:7q22.1
benign
NM_000799.4(EPO):c.171T>C (p.Ala57=) single nucleotide variant not provided [RCV000963042] Chr7:100721973 [GRCh38]
Chr7:100319596 [GRCh37]
Chr7:7q22.1
likely benign
GRCh37/hg19 7q22.1(chr7:100312504-100411701)x3 copy number gain not provided [RCV000847354] Chr7:100312504..100411701 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_000799.4(EPO):c.208G>A (p.Asp70Asn) single nucleotide variant not provided [RCV000888072] Chr7:100722010 [GRCh38]
Chr7:100319633 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.261C>T (p.Ala87=) single nucleotide variant not provided [RCV000909265] Chr7:100722678 [GRCh38]
Chr7:100320301 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.237G>A (p.Lys79=) single nucleotide variant not provided [RCV000889625] Chr7:100722039 [GRCh38]
Chr7:100319662 [GRCh37]
Chr7:7q22.1
benign
NM_000799.4(EPO):c.496C>T (p.Arg166Cys) single nucleotide variant not provided [RCV000889626] Chr7:100723047 [GRCh38]
Chr7:100320670 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.250G>A (p.Gly84Arg) single nucleotide variant not provided [RCV000891058] Chr7:100722667 [GRCh38]
Chr7:100320290 [GRCh37]
Chr7:7q22.1
likely benign
NM_000799.4(EPO):c.54G>A (p.Ser18=) single nucleotide variant not provided [RCV000889593] Chr7:100721598 [GRCh38]
Chr7:100319221 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1
likely pathogenic
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Robin sequence [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3415 AgrOrtholog
COSMIC EPO COSMIC
Ensembl Genes ENSG00000130427 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000252723 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252723 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000130427 GTEx
HGNC ID HGNC:3415 ENTREZGENE
Human Proteome Map EPO Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPO/TPO_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPO_TPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Erythroptn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2056 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2056 ENTREZGENE
OMIM 133170 OMIM
  612623 OMIM
  617907 OMIM
  617911 OMIM
PANTHER PTHR10370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EPO_TPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27833 PharmGKB
PIRSF EPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ERYTHROPTN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EPO_TPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZKK5_HUMAN UniProtKB/TrEMBL
  EPO_HUMAN UniProtKB/Swiss-Prot
  G9JKG7 ENTREZGENE, UniProtKB/TrEMBL
  P01588 ENTREZGENE
UniProt Secondary Q2M2L6 UniProtKB/Swiss-Prot
  Q549U2 UniProtKB/Swiss-Prot
  Q9UDZ0 UniProtKB/Swiss-Prot
  Q9UEZ5 UniProtKB/Swiss-Prot
  Q9UHA0 UniProtKB/Swiss-Prot