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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SFTPB
surfactant protein B
Chromosome 2 Β· 2p11.2
NCBI Gene: 6439Ensembl: ENSG00000168878.20HGNC: HGNC:10801UniProt: P07988
159PubMed Papers
22Diseases
0Drugs
19Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingalveolar lamellar bodyGO:0005615multivesicular bodyNeonatal acute respiratory distress with surfactant metabolism deficiencysurfactant metabolism dysfunction, pulmonary, 1Congenital pulmonary alveolar proteinosishereditary pulmonary alveolar proteinosis
✦AI Summary

SFTPB encodes surfactant protein B, a critical pulmonary surfactant component that reduces surface tension at the air-liquid interface in alveoli, increasing the collapse pressure of palmitic acid to approximately 70 millinewtons per meter. 1 The protein is produced by alveolar epithelial type 2 cells and functions in maintaining alveolar stability and respiratory gas exchange. 2 Mechanistically, SFTPB participates in surfactant metabolism and processing. Mutations in SFTPB impair normal surfactant processing; however, CRISPR-based correction in patient-derived induced pluripotent stem cells successfully restores this function. 1 Pro-SFTPB, the precursor form, accumulates in progressive pulmonary fibrosis and serves as a biomarker in serum extracellular vesicles, reflecting pro-fibrotic changes originating from alveolar epithelial type 2 cells. 3 Clinically, SFTPB dysfunction is associated with respiratory distress syndrome in premature infants and pulmonary surfactant metabolism dysfunction. Beyond primary surfactant disorders, SFTPB has broader disease relevance: elevated blood SFTPB strongly predicts interstitial lung abnormalities and their progression (OR 3.71), 4 specific SFTPB genetic polymorphisms (rs11130866, rs7316, rs9752) influence COVID-19 severity and treatment requirements, 5 6 and recurrent 3' UTR mutations in SFTPB appear enriched during lung adenocarcinoma evolution in Chinese patients. 7 Additionally, genetically predicted SFTPB levels show inverse association with lung cancer risk. 8

Sources cited
1
SFTPB mutations impair surfactant processing; CRISPR correction restores function in patient-derived alveolar epithelial type 2 cells
PMID: 28965766
2
SFTPB+ terminal airway-enriched secretory cells are unique to distal airways and are lost in COPD
PMID: 36796082
3
Pro-SFTPB in serum extracellular vesicles predicts progressive pulmonary fibrosis and originates from alveolar epithelial type 2 cells
PMID: 38855869
4
Blood SFTPB is strongly associated with interstitial lung abnormalities (OR 3.71) and their progression
PMID: 35438610
5
SFTPB rs11130866 gene variant CC genotype increases risk of acute respiratory distress syndrome in COVID-19
PMID: 36460583
6
SFTPB rs7316 and rs9752 polymorphisms affect diagnostic value of plasma pro-SFTPB in non-small-cell lung cancer
PMID: 31016788
7
Recurrent disrupting mutations in SFTPB 3' UTR occur during lung adenocarcinoma evolution
PMID: 40479597
8
Genetically predicted SFTPB shows inverse association with lung cancer risk as potential therapeutic target
PMID: 37735436
Disease Associationsβ“˜22
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.77Strong
surfactant metabolism dysfunction, pulmonary, 1Open Targets
0.76Strong
Congenital pulmonary alveolar proteinosisOpen Targets
0.66Moderate
hereditary pulmonary alveolar proteinosisOpen Targets
0.52Moderate
newborn respiratory distress syndromeOpen Targets
0.40Weak
interstitial lung diseaseOpen Targets
0.39Weak
respiratory distress syndrome in premature infantsOpen Targets
0.19Weak
Moderate albuminuriaOpen Targets
0.18Weak
alcohol drinkingOpen Targets
0.14Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
cystic fibrosisOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
cardiovascular diseaseOpen Targets
0.07Suggestive
acute respiratory distress syndromeOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
obstructive sleep apneaOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
lung carcinomaOpen Targets
0.05Suggestive
bronchopulmonary dysplasiaOpen Targets
0.05Suggestive
Pulmonary surfactant metabolism dysfunction 1UniProt
Respiratory distress syndrome in premature infantsUniProt
Pathogenic Variants19
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)Pathogenic
Surfactant metabolism dysfunction, pulmonary, 1|not provided|Hereditary pulmonary alveolar proteinosis|SFTPB-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 121
NM_000542.5(SFTPB):c.268-2delLikely pathogenic
SFTPB-related disorder|not provided
β˜…β˜…β˜†β˜†2024
NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs)Pathogenic
Surfactant metabolism dysfunction, pulmonary, 1|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 121
NM_000542.5(SFTPB):c.439C>T (p.Gln147Ter)Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 147
NM_000542.5(SFTPB):c.195+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_000542.5(SFTPB):c.195+4A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_000542.5(SFTPB):c.583-1G>TLikely pathogenic
SFTPB-related disorder
β˜…β˜†β˜†β˜†2023
NM_000542.5(SFTPB):c.479del (p.Leu160fs)Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 1
β˜…β˜†β˜†β˜†2022β†’ Residue 160
NM_000542.5(SFTPB):c.365del (p.Leu122fs)Pathogenic
Surfactant metabolism dysfunction, pulmonary, 1|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 122
NM_000542.5(SFTPB):c.146G>A (p.Cys49Tyr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 49
NM_000542.5(SFTPB):c.876G>A (p.Trp292Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 292
NM_000542.5(SFTPB):c.581del (p.Gln194fs)Pathogenic
Hereditary pulmonary alveolar proteinosis
β˜…β˜†β˜†β˜†2020β†’ Residue 194
NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly)Likely pathogenic
Hereditary pulmonary alveolar proteinosis
β˜…β˜†β˜†β˜†2020β†’ Residue 302
NM_000542.5(SFTPB):c.1084-1G>APathogenic
Surfactant metabolism dysfunction, pulmonary, 1
β˜…β˜†β˜†β˜†2018
NM_000542.5(SFTPB):c.754C>T (p.Arg252Cys)Pathogenic
Hereditary pulmonary alveolar proteinosis
β˜…β˜†β˜†β˜†2018β†’ Residue 252
NM_000542.5(SFTPB):c.883C>T (p.Arg295Ter)Pathogenic
Hereditary pulmonary alveolar proteinosis
β˜…β˜†β˜†β˜†2018β†’ Residue 295
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser)Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 1|Hereditary pulmonary alveolar proteinosis
β˜…β˜†β˜†β˜†2017β†’ Residue 244
NM_000542.5(SFTPB):c.324dup (p.Met109fs)Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 1
β˜…β˜†β˜†β˜†β†’ Residue 109
NM_000542.5(SFTPB):c.465G>T (p.Gly155=)Pathogenic
Surfactant metabolism dysfunction, pulmonary, 1
β˜†β˜†β˜†β˜†2000β†’ Residue 155
View on ClinVar β†—
Related Genes
AGERProtein interaction100%SFTPA2Protein interaction99%ABCA3Protein interaction96%CSF2RAProtein interaction96%SCGB3A2Protein interaction95%SCGB1A1Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Ovary
0%
Brain
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SFTPBAGERSFTPA2ABCA3CSF2RASCGB3A2SCGB1A1
PROTEIN STRUCTURE
Preparing viewer…
PDB1DFW Β· IR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.47–0.85]
RankingsWhere SFTPB stands among ~20K protein-coding genes
  • #2,837of 20,598
    Most Researched159 Β· top quartile
  • #2,227of 5,498
    Most Pathogenic Variants19
  • #7,306of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedSFTPB
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.
PMID: 28965766
Cell Stem Cell Β· 2017
1.00
2
SFTPB in serum extracellular vesicles as a biomarker of progressive pulmonary fibrosis.
PMID: 38855869
JCI Insight Β· 2024
0.90
3
A Unique Cellular Organization of Human Distal Airways and Its Disarray in Chronic Obstructive Pulmonary Disease.
PMID: 36796082
Am J Respir Crit Care Med Β· 2023
0.80
4
Spatially distinct molecular patterns of gene expression in idiopathic pulmonary fibrosis.
PMID: 37978501
Respir Res Β· 2023
0.76
5
SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.
PMID: 36460583
Respir Investig Β· 2023
0.70