Gene

SFTPB

Species
Homo sapiens
Symbol
SFTPB
Name
surfactant protein B
Synonyms
  • 18 kDa pulmonary-surfactant protein
  • 6 kDa protein
Biotype
protein coding gene
Automated Description
Predicted to be involved in animal organ morphogenesis and respiratory gaseous exchange by respiratory system. Predicted to be located in cytoplasmic vesicle; endoplasmic reticulum membrane; and extracellular region. Predicted to be active in alveolar lamellar body and multivesicular body. Implicated in lung disease (multiple); respiratory syncytial virus infectious disease; and toxic shock syndrome. Biomarker of asthma; cystic fibrosis; lung disease (multiple); obstructive sleep apnea; and respiratory syncytial virus infectious disease.
RGD Description
This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11480
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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      Transgenic construct
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SFTPB molecule type
          Interactor gene
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            Genetic Interactions

            SFTPB role
            SFTPB genetic perturbation
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