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CSF2RB

Chr 22q12.3

colony stimulating factor 2 receptor subunit beta

Aliases:
IL5RB, CD131, betaGMR
MANE:
ENST00000403662.8

Annotations refreshed 11 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood interstitial lung disease

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Familial pulmonary fibrosis

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Pulmonary fibrosis familial

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Congenital pulmonary alveolar proteinosis

    0.75
  • Intraalveolar phospholipid accumulation

    0.58
  • acute myeloid leukemia

    0.52
  • neurodegenerative disease

    0.46
  • Crohn disease

    0.45
  • autoimmune pulmonary alveolar proteinosis

    0.42
  • neoplasm

    0.41
  • atopic eczema

    0.41
  • pulmonary alveolar proteinosis

    0.40
  • dermatitis

    0.39

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

Protein function (UniProt)

Cytokine receptor common subunit beta

Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA (PubMed:1495999). In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway (PubMed:9516124)

Curated MONDO disease pages that list CSF2RB among their top associated genes.

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.