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SFTPA2

Chr 10q22.3

surfactant protein A2

Aliases:
SP-A2, COLEC5
MANE:
ENST00000372325.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood interstitial lung disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Familial pulmonary fibrosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Pulmonary fibrosis familial

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • idiopathic pulmonary fibrosis

    0.73
  • interstitial lung disease

    0.60
  • pulmonary fibrosis

    0.41
  • newborn respiratory distress syndrome

    0.39
  • neurodegenerative disease

    0.25
  • hereditary disease

    0.19
  • Mullegama-Klein-Martinez syndrome

    0.15
  • Abnormality of the skeletal system

    0.14
  • infection

    0.11
  • asthma

    0.10

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

Protein function (UniProt)

Pulmonary surfactant-associated protein A2

In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration

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.