IREB2
Iron Responsive Element Binding Protein 2
Gene Information Card
| Symbol | IREB2 |
|---|---|
| Full Name | Iron Responsive Element Binding Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.1 |
| NCBI Gene ID | 3658 ncbi.nlm.nih.gov/gene/3658 |
| Ensembl ID | ENSG00000136352 |
| UniProt ID | P48200 |
| OMIM ID | 147582 |
| HGNC ID | 6115 |
| Aliases | IRP2, ACO1, IRE-BP 2 |
Description
IREB2 encodes iron regulatory protein 2 (IRP2), a cytoplasmic protein that binds to iron-responsive elements (IREs) in the untranslated regions of mRNAs involved in iron metabolism. IRP2 regulates the expression of ferritin, transferrin receptor, and other iron-related genes in response to cellular iron levels. It is a key post-transcriptional regulator of iron homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemochromatosis | Dysregulation of iron absorption due to altered IRP2 binding to IREs in HAMP and TFRC mRNAs | ClinVar, OMIM |
| Neurodegeneration with Brain Iron Accumulation (NBIA) | Loss of IRP2 function leads to iron overload in basal ganglia | OMIM, PubMed |
| Iron Deficiency Anemia | Compensatory upregulation of IRP2 activity increases transferrin receptor expression | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Bone Marrow | 15.1 | High |
| Duodenum | 10.2 | Medium |
| Spleen | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocyte line |
| SH-SY5Y | 7.5 | Neuroblastoma line |
| K562 | 18.2 | Erythroleukemia line |
| Caco-2 | 11.3 | Intestinal epithelial line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296C>T (p.Pro99Leu) | Missense | <0.01% | Reduced RNA-binding activity; associated with iron overload |
| c.458G>A (p.Arg153His) | Missense | <0.01% | Impaired IRE binding; linked to NBIA |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Rare | Loss of function; severe iron dysregulation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt IRE-binding or protein stability lead to reduced IRP2 activity, causing iron accumulation in tissues.
Gain of Function (GOF)
Not reported for IREB2.
Dominant Negative (DN)
Not reported for IREB2.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • iron ion binding |
| • mRNA 3'-UTR binding | • regulation of translation |
| • cellular iron ion homeostasis | • response to iron ion |
Pathways
• Iron metabolism (Reactome R-HSA-917937)
• Post-transcriptional regulation by IRP (KEGG hsa04978)
Protein Summary
IREB2 encodes iron regulatory protein 2 (IRP2), a 105 kDa cytoplasmic protein that binds to iron-responsive elements (IREs) in the 5' or 3' UTR of target mRNAs. Under low iron conditions, IRP2 stabilizes transferrin receptor mRNA and represses ferritin translation, increasing iron uptake. Under high iron, IRP2 is degraded via the ubiquitin-proteasome pathway, allowing ferritin synthesis and reducing iron import. IRP2 is the predominant IRP in most tissues and is essential for systemic iron balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IREB2 Knockout HEK293 Cell Line | EDJ-KQ5005 | Human | 3658 | Details Get a Quote |
| IREB2 Knockout A-549 Cell Line | EDJ-KQ27908 | Human | 3658 | Details Get a Quote |
| IREB2 Knockout HCT 116 Cell Line | EDJ-KQ27909 | Human | 3658 | Details Get a Quote |
| IREB2 Knockout HeLa Cell Line | EDJ-KQ27910 | Human | 3658 | Details Get a Quote |
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