Gene Gene information from NCBI Gene database.
Entrez ID 6440
Gene name Surfactant protein C
Gene symbol SFTPC
Synonyms (NCBI Gene)
BRICD6PSP-CSFTP2SMDP2SP-CSP5
Chromosome 8
Chromosome location 8p21.3
Summary 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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs121917834 T>A,C Pathogenic Missense variant, coding sequence variant
rs121917836 G>A Pathogenic Intron variant, coding sequence variant, missense variant
rs1563221666 C>T Likely-pathogenic Coding sequence variant, missense variant, intron variant
rs1586421317 T>C Likely-pathogenic Missense variant, coding sequence variant
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PLAGL2 Activation 17618602;18655774
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19815549, 25416956, 25686087, 25910212, 26871637, 31515488, 32296183, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
178620 10802 ENSG00000168484
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11686
Protein name Surfactant protein C (SP-C) (Pulmonary surfactant-associated protein C) (Pulmonary surfactant-associated proteolipid SPL(Val)) (SP5)
Protein function Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces.
PDB 2YAD , 8OVI , 8OX2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08999 SP_C-Propep 1 93 Surfactant protein C, N terminal propeptide Domain
PF04089 BRICHOS 96 196 BRICHOS domain Domain
Sequence
Sequence length 197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Surfactant metabolism
Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hereditary pulmonary alveolar proteinosis Likely pathogenic; Pathogenic rs2538945227, rs372529179, rs1003901489, rs2538945951, rs2538945800, rs2538948503, rs2538948539, rs121917834 RCV002451823
RCV002320976
RCV002454674
RCV002332336
RCV002333061
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial lung disease 2 Likely pathogenic rs1586421317 RCV000988043
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary fibrosis Pathogenic rs121917834 RCV002509156
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SFTPC-related disorder Likely pathogenic rs1563221666 RCV003411688
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC RESPIRATORY DISTRESS WITH SURFACTANT METABOLISM DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 1394139, 9191473
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16688788, 28089356, 28653505, 31379200
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 25851810
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 17121584
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma LHGDN 17121584
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 19910179 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune disease Pubtator 24098648 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31833519
★☆☆☆☆
Found in Text Mining only
Bronchiectasis Bronchiectasis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only