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IRF2BP2

Chr 1q42.3

interferon regulatory factor 2 binding protein 2

Aliases:
LRIR2, IRF-2BP2
MANE:
ENST00000366609.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • immunodeficiency, common variable, 14

    0.64
  • common variable immunodeficiency

    0.47
  • atrial fibrillation

    0.43
  • mathematical ability

    0.40
  • metabolic disease

    0.21
  • Hypercholesterolemia

    0.20
  • alcohol drinking

    0.19
  • gout

    0.19
  • autoimmune disease

    0.17
  • urolithiasis

    0.17

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

Protein function (UniProt)

Interferon regulatory factor 2-binding protein 2

Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798)

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.