SFTPA2
Surfactant Protein A2 Gene
Gene Information Card
| Symbol | SFTPA2 |
|---|---|
| Full Name | Surfactant Protein A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 6436 ncbi.nlm.nih.gov/gene/6436 |
| Ensembl ID | ENSG00000122852 |
| UniProt ID | Q8IWL2 |
| OMIM ID | 178642 |
| HGNC ID | 10800 |
| Aliases | COLEC5, PSAP, PSP-A, PSP-D, SFTP2, SP-A, SP-A2 |
Description
SFTPA2 encodes surfactant protein A2 (SP-A2), a member of the collectin family and a major component of pulmonary surfactant. SP-A2 is involved in innate immune defense, surfactant lipid homeostasis, and reduction of surface tension in the alveoli. Mutations in SFTPA2 are associated with idiopathic pulmonary fibrosis (IPF) and lung adenocarcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Pulmonary Fibrosis (IPF) | Missense mutations (e.g., p.Gly231Val, p.Phe198Ser) disrupt protein folding and secretion, leading to ER stress and alveolar epithelial cell apoptosis. | ClinVar, OMIM |
| Lung Adenocarcinoma | Germline SFTPA2 mutations increase susceptibility to lung cancer, possibly through chronic inflammation and impaired surfactant function. | COSMIC, OMIM |
| Pulmonary Surfactant Metabolism Dysfunction | Defective SP-A2 impairs surfactant structure and function, contributing to respiratory distress. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 107.2 | High |
| Trachea | 23.5 | Medium |
| Salivary gland | 1.2 | Low |
| Breast | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 89.3 | High expression |
| NCI-H441 (lung papillary adenocarcinoma) | 112.5 | High expression |
| BEAS-2B (bronchial epithelial) | 45.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.692G>T (p.Gly231Val) | Missense | Rare (<0.01%) | Dominant-negative; causes ER retention and reduced secretion |
| c.593T>C (p.Phe198Ser) | Missense | Rare (<0.01%) | Impaired protein folding and secretion; associated with IPF |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1?) abolish protein production.
Gain of Function (GOF)
Not reported for SFTPA2.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly231Val, p.Phe198Ser) interfere with wild-type SP-A2 function and cause ER stress.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Surfactant metabolism (Reactome: R-HSA-5683826)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Surfactant protein A2 (SP-A2) is a 248-amino acid glycoprotein that forms oligomeric structures essential for surfactant function. It binds to lipids and pathogens, facilitating opsonization and clearance. SP-A2 is primarily secreted by alveolar type II cells and Clara cells. Mutations in SFTPA2 cause misfolding and ER stress, leading to familial pulmonary fibrosis and increased lung cancer risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFTPA2 Knockout HEK293 Cell Line | EDJ-KQ2397 | Human | 729238 | Details Get a Quote |
| SFTPA2 Knockout HeLa Cell Line | EDJ-KQ60737 | Human | 729238 | Details Get a Quote |
| SFTPA2 Knockout A-549 Cell Line | EDJ-KQ69207 | Human | 729238 | Details Get a Quote |
| SFTPA2 Knockout HCT 116 Cell Line | EDJ-KQ77564 | Human | 729238 | Details Get a Quote |
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