SFTPC Chromosome 8
Surfactant protein C
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What This Gene Does
This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
BRICHOS domain containing
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000168484
Associated Conditions (8)
Surfactant metabolism dysfunction
pulmonary
2
Hereditary pulmonary alveolar proteinosis
Interstitial lung disease 2
Pulmonary fibrosis
SFTPC-related disorder
Inborn genetic diseases
Key Variants
RS1827914094
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS183533911
Conflicting classifications of pathogenicity
Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary
Health Risk
RS199905878
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS200039720
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS200469074
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS201567623
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS201685063
Conflicting classifications of pathogenicity
Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary
Health Risk
RS202145169
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS2131816806
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
RS34957318
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
RS371998882
Conflicting classifications of pathogenicity
Health Risk
RS566914013
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 2
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1827914094 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS183533911 | Health Risk | Conflicting classifications of pathogenicity | Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary |
| RS199905878 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS200039720 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS200469074 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS201567623 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS201685063 | Health Risk | Conflicting classifications of pathogenicity | Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary |
| RS202145169 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS2131816806 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS34957318 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS371998882 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS566914013 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS76821562 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1209953579 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS1554476282 | Health Risk | Likely pathogenic | Inborn genetic diseases, Surfactant metabolism dysfunction, pulmonary |
| RS1563221666 | Health Risk | Likely pathogenic | SFTPC-related disorder, SFTPC-related disorder |
| RS1586421317 | Health Risk | Likely pathogenic | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS2131815446 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS2131817329 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS2131820994 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS2538945227 | Health Risk | Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2538945951 | Health Risk | Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2538948503 | Health Risk | Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS372529179 | Health Risk | Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS1458422311 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2538941078 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS772568845 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS121917834 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS121917835 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS121917836 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS121918559 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS121918560 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS1586422427 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS2131819081 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 2 |
| RS2538943809 | Health Risk | Pathogenic | — |
| RS2538945160 | Health Risk | Pathogenic | — |
| RS2538945704 | Health Risk | Pathogenic | — |
| RS2538945800 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2538948539 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS1003901489 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |