IREB2 Chromosome 15
Iron responsive element binding protein 2
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What This Gene Does
The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]
Associated Conditions (6)
Neurodegeneration
early-onset
with choreoathetoid movements and microcytic anemia
NEURODEGENERATION
EARLY-ONSET
WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
Key Variants
RS200887475
Conflicting classifications of pathogenicity
Health Risk
RS1566982116
Likely pathogenic
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
Health Risk
RS779567692
Likely pathogenic
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200887475 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1566982116 | Health Risk | Likely pathogenic | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia |
| RS779567692 | Health Risk | Likely pathogenic | NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA |