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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ERFE
erythroferrone
Chromosome 2 · 2q37.3
NCBI Gene: 151176Ensembl: ENSG00000178752.16HGNC: HGNC:26727UniProt: Q4G0M1
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
molecular sequestering activitynegative regulation of BMP signaling pathwayintracellular iron ion homeostasisnegative regulation of osteoclast differentiationpolycystic ovary syndrometype 2 diabetes mellituscancercoronary artery disease
✦AI Summary

ERFE (erythroferrone) is an iron-regulatory hormone that serves as a critical mediator in systemic iron homeostasis and erythropoiesis. The protein functions primarily as an erythroid regulator produced by erythroblasts following blood loss, where it suppresses hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores 1. This hepcidin inhibition is particularly important in congenital dyserythropoietic anemias (CDAs), where erythroferrone specifically mediates hepatic iron overload 1. Beyond iron metabolism, ERFE acts as a BMP (bone morphogenetic protein) scavenger that promotes 'BMP resistance' in pathological conditions 2. In cancer cachexia, ERFE is upregulated in skeletal muscle through STAT3-driven expression, contributing to muscle wasting by interfering with BMP-Smad1/5/8 signaling pathways 2. The protein also demonstrates significant clinical relevance as a prognostic biomarker across multiple cancer types, with aberrant expression observed in 22 tumor types and prognostic impact in 11 cancer types 3. ERFE expression correlates with oncogenic mutations, higher tumor mutational burden, and influences intratumoral immune cell infiltration, suggesting broader roles in tumorigenesis beyond its established iron regulatory functions 3.

Sources cited
1
ERFE is an erythroid regulator that inhibits hepcidin production and mediates hepatic iron overload in congenital dyserythropoietic anemias
PMID: 32702750
2
ERFE acts as a BMP scavenger promoting BMP resistance and is upregulated in cancer cachexia skeletal muscle through STAT3-driven expression
PMID: 38052214
3
ERFE is aberrantly expressed in 22 tumor types with prognostic impact in 11 cancer types, correlating with oncogenic mutations and tumor mutational burden
PMID: 36675239
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
polycystic ovary syndromeOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
dominant beta-thalassemiaOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
hemoglobin H diseaseOpen Targets
0.06Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.06Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HAMPProtein interaction84%C1QTNF12Shared pathway25%OSBPL8Shared pathway19%TNFAIP6Shared pathway18%FAIMShared pathway17%TMEM53Shared pathway15%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
31%
Lung
13%
Liver
4%
Ovary
2%
Heart
1%
Gene Interaction Network
Click a node to explore
ERFEHAMPC1QTNF12OSBPL8TNFAIP6FAIMTMEM53
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q4G0M1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.25 [0.92–1.70]
RankingsWhere ERFE stands among ~20K protein-coding genes
  • #10,316of 20,598
    Most Researched39
  • #16,095of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedERFE
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regulation of erythropoiesis: emerging concepts and therapeutic implications.
PMID: 37639548
Hematology · 2023
1.00
2
Congenital dyserythropoietic anemias.
PMID: 32702750
Blood · 2020
0.90
3
Hepatic transferrin plays a role in systemic iron homeostasis and liver ferroptosis.
PMID: 32374849
Blood · 2020
0.80
4
Iron-Loading Anemias.
PMID: 40603790
Adv Exp Med Biol · 2025
0.70
5
Propionibacterium acnes strain populations in the human skin microbiome associated with acne.
PMID: 23337890
J Invest Dermatol · 2013
0.60