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IREB2

Chr 15q25.1

iron responsive element binding protein 2

Aliases:
IRP2
MANE:
ENST00000258886.13

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

    0.67
  • pneumonia

    0.31
  • chronic obstructive pulmonary disease

    0.28
  • atherosclerosis

    0.24
  • lung disorder

    0.23
  • chronic lung disease

    0.22
  • peripheral vascular disease

    0.21
  • respiratory failure

    0.21
  • chronic bronchitis

    0.21
  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Iron-responsive element-binding protein 2

RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.