SFTPB surfactant protein B [Homo sapiens (human)]
| Gene Symbol | SFTPB |
| Entrez Gene ID | 6439 |
| Full Name | surfactant protein B |
| Synonyms | PSP-B, SFTB3, SFTP3, SMDP1, SP-B |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
2 2p12-p11.2 |
| Summary | 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. |
| Disorder | MIM: 178640 Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) |
| mRNA | NM_198843, 288856296 |
| Protein | NP_942140, 288856297 |
| Product | pulmonary surfactant-associated protein B precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_000542, 288856298 |
| Protein | NP_000533, 288856299 |
| Product | pulmonary surfactant-associated protein B precursor |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | SFTPB | NP_942140.2 |
| Pan troglodytes (chimpanzee) | SFTPB | XP_001168379.1 |
| Bos taurus (cattle) | SFTPB | NP_001068779.1 |
| Mus musculus (house mouse) | Sftpb | NP_680088.1 |
| Rattus norvegicus (Norway rat) | Sftpb | NP_620197.1 |
| ID | Name | Evidence |
| GO:0001666 | response to hypoxia | IEA |
| GO:0006629 | lipid metabolic process | IEA |
| GO:0006665 | sphingolipid metabolic process | IEA |
| GO:0007585 | respiratory gaseous exchange | IEA |
| GO:0007623 | circadian rhythm | IEA |
| GO:0009749 | response to glucose stimulus | IEA |
| GO:0009887 | organ morphogenesis | TAS |
| GO:0032496 | response to lipopolysaccharide | IEA |
| GO:0033189 | response to vitamin A | IEA |
| GO:0051384 | response to glucocorticoid stimulus | IEA |
| GO:0055093 | response to hyperoxia | IEA |
| GO:0070741 | response to interleukin-6 | IEA |
| GO:0070849 | response to epidermal growth factor stimulus | IEA |
| GO:0071260 | cellular response to mechanical stimulus | IEA |
| GO:0071732 | cellular response to nitric oxide | IEA |
Component
| ID | Name | Evidence |
| GO:0005576 | extracellular region | IEA |
| GO:0005615 | extracellular space | IEA |
| GO:0005737 | cytoplasm | IEA |
| GO:0005764 | lysosome | IEA |
| GO:0005771 | multivesicular body | IEA |
| GO:0042599 | lamellar body | IEA |
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