ERFE
Chr 2erythroferrone
Also known as: C1QTNF15, CTRP15, FAM132B
The protein erythroferrone is an iron-regulatory hormone produced by erythroblasts that suppresses hepatic hepcidin expression to promote iron absorption and mobilization from stores following blood loss. Pathogenic variants in ERFE cause autosomal recessive iron refractory iron deficiency anemia (IRIDA), a disorder characterized by severe iron deficiency anemia that does not respond to oral iron supplementation and responds poorly to parenteral iron. The gene shows tolerance to loss-of-function variants (LOEUF 1.28), which is consistent with the recessive inheritance pattern of the associated iron metabolism disorder.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERFE · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools