SFTPB Chromosome 2
Surfactant protein B
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What This Gene Does
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]
Associated Conditions (8)
Surfactant metabolism dysfunction
pulmonary
1
Hereditary pulmonary alveolar proteinosis
Thyroid cancer
nonmedullary
Hepatocellular carcinoma
SFTPB-related disorder
Key Variants
RS137853202
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS141123597
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS141905538
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS145895555
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS147057701
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
RS148914290
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS184494733
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS202098250
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS35373464
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS35509268
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 1
Health Risk
RS45488101
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
RS45504597
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853202 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS141123597 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS141905538 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS145895555 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS147057701 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS148914290 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS184494733 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS202098250 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS35373464 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS35509268 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS45488101 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS45504597 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS45505791 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS528288865 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS756571077 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS759213352 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS778349143 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS955981915 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS1001637675 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS1213187506 | Health Risk | Likely pathogenic | SFTPB-related disorder, SFTPB-related disorder |
| RS2104400347 | Health Risk | Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2466683864 | Health Risk | Likely pathogenic | SFTPB-related disorder, SFTPB-related disorder |
| RS2466687208 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS2466700282 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS2466706806 | Health Risk | Likely pathogenic | — |
| RS45596037 | Health Risk | Likely pathogenic | — |
| RS1218322078 | Health Risk | Pathogenic | — |
| RS1553380888 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS1558572491 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS1677410327 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS1677411235 | Health Risk | Pathogenic | — |
| RS1677658252 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS2466685763 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS35328240 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |
| RS772619023 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS779795223 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 1 |