Skip to content
GenoLensGenoLens

SFTPB

Chr 2p11.2

surfactant protein B

Aliases:
SP-B
MANE:
ENST00000519937.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood interstitial lung disease

    BIALLELIC, autosomal or pseudoautosomal
  • Familial pulmonary fibrosis

    BIALLELIC, autosomal or pseudoautosomal
  • Pulmonary fibrosis familial

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Neonatal acute respiratory distress with surfactant metabolism deficiency

    0.77
  • surfactant metabolism dysfunction, pulmonary, 1

    0.76
  • Congenital pulmonary alveolar proteinosis

    0.64
  • hereditary pulmonary alveolar proteinosis

    0.53
  • interstitial lung disease

    0.40
  • newborn respiratory distress syndrome

    0.40
  • respiratory distress syndrome in premature infants

    0.20
  • Moderate albuminuria

    0.17
  • alcohol drinking

    0.16
  • acute respiratory distress syndrome

    0.10

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

Protein function (UniProt)

Pulmonary surfactant-associated protein B

Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter

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.