SFTPA2 Chromosome 10
Surfactant protein A2
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What This Gene Does
This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Collectins|C-type lectin domain containing"
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000185303
Associated Conditions (4)
Inborn genetic diseases
Interstitial lung disease 2
SFTPA2-related disorder
Pulmonary fibrosis
Key Variants
RS147158327
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150273659
Conflicting classifications of pathogenicity
Interstitial lung disease 2, SFTPA2-related disorder, Interstitial lung disease 2
Health Risk
RS371035540
Conflicting classifications of pathogenicity
Inborn genetic diseases, Interstitial lung disease 2, Inborn genetic diseases
Health Risk
RS375082207
Conflicting classifications of pathogenicity
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS1319818753
Likely pathogenic
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS2492316333
Likely pathogenic
Health Risk
RS121917738
Pathogenic
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS2132045183
Pathogenic
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS2132046635
Pathogenic
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS121917737
Pathogenic/Likely risk allele
Interstitial lung disease 2, Pulmonary fibrosis, Interstitial lung disease 2
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147158327 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150273659 | Health Risk | Conflicting classifications of pathogenicity | Interstitial lung disease 2, SFTPA2-related disorder, Interstitial lung disease 2 |
| RS371035540 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Interstitial lung disease 2, Inborn genetic diseases |
| RS375082207 | Health Risk | Conflicting classifications of pathogenicity | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS1319818753 | Health Risk | Likely pathogenic | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS2492316333 | Health Risk | Likely pathogenic | — |
| RS121917738 | Health Risk | Pathogenic | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS2132045183 | Health Risk | Pathogenic | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS2132046635 | Health Risk | Pathogenic | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS121917737 | Health Risk | Pathogenic/Likely risk allele | Interstitial lung disease 2, Pulmonary fibrosis, Interstitial lung disease 2 |