EPOR erythropoietin receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPORprovided by HGNC
Official Full Name: erythropoietin receptorprovided by HGNC
Primary source: HGNC:HGNC:3416
See related: Ensembl:ENSG00000187266 MIM:133171; AllianceGenome:HGNC:3416
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPO-R
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 14.6), thyroid (RPKM 11.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11377207..11384314, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11504177..11511284, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11487883..11494990, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease.
Title: Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease.
Hemolysis-driven IFNalpha production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease.
Title: Hemolysis-driven IFNα production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease.
Erythropoietin receptor is a risk factor for prognosis: A potential biomarker in lung adenocarcinoma.
Title: Erythropoietin receptor is a risk factor for prognosis: A potential biomarker in lung adenocarcinoma.
[Update on the role and mechanism of erythropoietin receptor in acute kidney injury and repair or fibrosis].
Title: [Update on the role and mechanism of erythropoietin receptor in acute kidney injury and repair or fibrosis].
Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia.
Title: Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia.
An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2(V617F) myeloproliferative neoplasms.
Title: An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2(V617F) myeloproliferative neoplasms.
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.
Title: Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.
EpoR stimulates rapid cycling and larger red cells during mouse and human erythropoiesis.
Title: EpoR stimulates rapid cycling and larger red cells during mouse and human erythropoiesis.
Expression of the erythropoietin receptor in patients with proliferative diabetic retinopathy and its correlation with postoperative visual prognosis.
Title: Expression of the erythropoietin receptor in patients with proliferative diabetic retinopathy and its correlation with postoperative visual prognosis.
Identification and Functional Analysis of EPOR(+) Tumor-Associated Macrophages in Human Osteosarcoma Lung Metastasis.
Title: Identification and Functional Analysis of EPOR(+) Tumor-Associated Macrophages in Human Osteosarcoma Lung Metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (163)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary familial polycythemia due to EPO receptor mutation MedGen: C4551637 OMIM: 133100 GeneReviews: Primary Familial and Congenital Polycythemia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:196998 (e-PCR)
- UniSTS:155912

GDB:374131 (e-PCR)
- UniSTS:156942

D19S1015 (e-PCR)
- UniSTS:11830

RH17696 (e-PCR)
- UniSTS:43619

RH70840 (e-PCR)
- UniSTS:85366

GDB:250953 (e-PCR)
- UniSTS:156305

GDB:250955 (e-PCR)
- UniSTS:156306

GDB:266625 (e-PCR)
- UniSTS:156337

RH71284 (e-PCR)
- UniSTS:81857

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables erythropoietin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables erythropoietin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in decidualization	IEA Inferred from Electronic Annotation more info
involved_in erythropoietin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: erythropoietin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021395.1 RefSeqGene

Range

5029..12136

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000121.4 → NP_000112.1 erythropoietin receptor precursor

See identical proteins and their annotated locations for NP_000112.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC024575, BC019092, BU619338, M60459

Consensus CDS

CCDS12260.1

UniProtKB/Swiss-Prot

B2RCG4, P19235, Q15443, Q2M205

UniProtKB/TrEMBL

I6RPE1

Related

ENSP00000222139.5, ENST00000222139.11

Conserved Domains (2) summary

cd00063
Location:146 → 244

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam09067
Location:37 → 140

EpoR_lig-bind; Erythropoietin receptor, ligand binding

RNA

NR_033663.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC024575, BC019092, BU619338