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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SFTPA2
surfactant protein A2
Chromosome 10 Β· 10q22.3
NCBI Gene: 729238Ensembl: ENSG00000185303.18HGNC: HGNC:10799UniProt: Q8IWL1
61PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingGO:0005615multivesicular bodyextracellular regionidiopathic pulmonary fibrosisinterstitial lung diseasepulmonary fibrosisnewborn respiratory distress syndrome
✦AI Summary

SFTPA2 encodes surfactant protein A2, a calcium-binding protein essential for lung function. In the presence of calcium ions, SP-A2 binds surfactant phospholipids and reduces surface tension at the air-liquid interface in alveoli, enabling normal respiration. SP-A2 also plays a critical role in innate immunity and host defense against respiratory pathogens 1. Functionally, SP-A1 and SP-A2 exhibit divergent roles; both gene products are required together to form tubular myelin structures in vivo, which are important for surfactant organization 2. SFTPA2 expression is differentially regulated through 3' untranslated region polymorphisms that modulate microRNA binding, affecting gene expression levels across individuals 3. Pathogenic SFTPA2 mutations cause interstitial lung disease through defective protein secretion, with highly variable disease severity ranging from asymptomatic carriers to cases requiring lung transplantation at median age 51 years 4. Notably, SFTPA2 variant carriers face markedly elevated lung cancer risk (odds ratio 3.97 compared to non-carriers, and 18.1-fold higher risk versus telomere-related gene variant carriers), predominantly presenting as adenocarcinoma, with median overall survival of 24 months 5. Additionally, plasma SFTPA2 levels associate with lung cancer incidence, detectable more than seven years before diagnosis in prospective analyses 6. SFTPA2 variants also influence susceptibility to tuberculosis, with specific polymorphisms showing significant protective or risk associations 1.

Sources cited
1
SP-A1 and SP-A2 have divergent functions; both are required together for tubular myelin formation in vivo
PMID: 20048345
2
SFTPA2 3'UTR polymorphisms differentially affect miRNA regulation and gene expression levels
PMID: 24793167
3
Pathogenic SFTPA2 mutations cause interstitial lung disease through defective protein secretion with variable phenotypes
PMID: 32855221
4
SFTPA2 variant carriers have significantly elevated lung cancer risk (OR 3.97) and 18.1-fold higher risk versus telomere-related gene carriers
PMID: 38575158
5
Plasma SFTPA2 levels associate with lung cancer risk, detectable >7 years before diagnosis
PMID: 38750076
6
SFTPA2 polymorphisms are associated with tuberculosis susceptibility and play roles in lung host defense
PMID: 16292672
7
SFTPA2 variants increase lung adenocarcinoma risk independently of underlying fibrosis
PMID: 34670806
Disease Associationsβ“˜21
idiopathic pulmonary fibrosisOpen Targets
0.71Strong
interstitial lung diseaseOpen Targets
0.61Moderate
pulmonary fibrosisOpen Targets
0.45Moderate
newborn respiratory distress syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
Mullegama-Klein-Martinez syndromeOpen Targets
0.15Weak
infectionOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
chronic obstructive pulmonary diseaseOpen Targets
0.10Suggestive
asthmaOpen Targets
0.09Suggestive
acute respiratory distress syndromeOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.08Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.08Suggestive
idiopathic interstitial pneumoniaOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
lung carcinomaOpen Targets
0.07Suggestive
pneumoniaOpen Targets
0.07Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.07Suggestive
Interstitial lung disease 2UniProt
Pathogenic Variants6
NM_001098668.4(SFTPA2):c.719_721del (p.Tyr240del)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 240
NM_001098668.4(SFTPA2):c.557A>G (p.Tyr186Cys)Likely pathogenic
Interstitial lung disease 2
β˜…β˜†β˜†β˜†2022β†’ Residue 186
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val)Pathogenic
Interstitial lung disease 2|Pulmonary fibrosis
β˜†β˜†β˜†β˜†2022β†’ Residue 231
NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg)Pathogenic
Interstitial lung disease 2
β˜†β˜†β˜†β˜†2021β†’ Residue 233
NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile)Pathogenic
Interstitial lung disease 2
β˜†β˜†β˜†β˜†2021β†’ Residue 171
NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser)Pathogenic
Interstitial lung disease 2
β˜†β˜†β˜†β˜†2009β†’ Residue 198
View on ClinVar β†—
Related Genes
SFTPBProtein interaction99%SFTPCProtein interaction99%SFTPDProtein interaction99%ELMOD2Protein interaction79%SFTPA1Protein interaction66%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SFTPA2SFTPBSFTPCSFTPDELMOD2SFTPA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IWL1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.46LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.01 [0.72–1.46]
RankingsWhere SFTPA2 stands among ~20K protein-coding genes
  • #7,606of 20,598
    Most Researched61
  • #3,381of 5,498
    Most Pathogenic Variants6
  • #14,914of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedSFTPA2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank.
PMID: 38750076
Nat Commun Β· 2024
1.00
2
Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
PMID: 34917085
Front Immunol Β· 2021
0.90
3
An 11-nt sequence polymorphism at the 3'UTR of human SFTPA1 and SFTPA2 gene variants differentially affect gene expression levels and miRNA regulation in cell culture.
PMID: 24793167
Am J Physiol Lung Cell Mol Physiol Β· 2014
0.80
4
Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.
PMID: 16292672
Hum Genet Β· 2006
0.70
5
High risk of lung cancer in surfactant-related gene variant carriers.
PMID: 38575158
Eur Respir J Β· 2024
0.60