ERFE Gene - Erythroferrone
Key regulator of iron homeostasis in erythropoiesis
Gene Information Card
| Symbol | ERFE |
|---|---|
| Full Name | Erythroferrone |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 151176 ncbi.nlm.nih.gov/gene/151176 |
| Ensembl ID | ENSG00000170571 |
| UniProt ID | Q4G0N4 |
| OMIM ID | 615035 |
| HGNC ID | 28299 |
| Aliases | FAM132B, C2orf63, myonectin |
Description
ERFE encodes erythroferrone, a hormone produced by erythroblasts that suppresses hepcidin expression in the liver, thereby increasing iron availability for hemoglobin synthesis during erythropoiesis. It is critical for iron homeostasis and is dysregulated in anemias and iron overload disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Iron-refractory iron deficiency anemia (IRIDA) | Loss-of-function mutations in ERFE impair hepcidin suppression, leading to iron restriction | PMID: 25263376 |
| Beta-thalassemia | Overexpression of ERFE contributes to iron overload by inappropriately suppressing hepcidin | PMID: 25349174 |
| Polycythemia vera | Elevated ERFE levels correlate with increased erythropoiesis and altered iron metabolism | PMID: 31004083 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Liver | 1.2 | Low |
| Testis | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.0 | High expression |
| HepG2 (hepatocellular) | 0.8 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, reduced protein |
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Impaired secretion |
| c.371G>A (p.Arg124Gln) | Missense | <0.01% | Reduced hepcidin suppression |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ERFE reduce hepcidin suppression, causing iron-restricted erythropoiesis (e.g., IRIDA).
Gain of Function (GOF)
Gain-of-function (overexpression) in beta-thalassemia leads to excessive hepcidin suppression and iron overload.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005179 (hormone activity) | • GO:0038183 (erythroferrone activity) |
| • GO:0042593 (glucose homeostasis) | • GO:0005576 (extracellular region) |
Pathways
• Hepcidin-ferroportin signaling in iron homeostasis
• Erythropoietin signaling pathway
Protein Summary
Erythroferrone is a 354-amino acid secreted hormone predominantly expressed in erythroblasts. It binds to the bone morphogenetic protein (BMP) pathway to suppress hepcidin transcription, facilitating iron release from stores and absorption. The protein contains a C-terminal domain essential for bioactivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERFE Knockout HEK293 Cell Line | EDJ-KQ11321 | Human | 151176 | Details Get a Quote |
| ERFE Knockout A-549 Cell Line | EDJ-KQ39464 | Human | 151176 | Details Get a Quote |
| ERFE Knockout HCT 116 Cell Line | EDJ-KQ39465 | Human | 151176 | Details Get a Quote |
| ERFE Knockout HeLa Cell Line | EDJ-KQ58680 | Human | 151176 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
