SFTPC (surfactant protein C)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
178620 10802 ENSG00000168484
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
188
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary pulmonary alveolar proteinosis Likely pathogenic; Pathogenic rs2538945227, rs372529179, rs1003901489, rs2538945951, rs2538945800, rs2538948503, rs2538948539, rs121917834 RCV002451823
RCV002320976
RCV002454674
RCV002332336
RCV002333061
RCV002342683
RCV002342936
RCV002415413
Interstitial lung disease 2 Likely pathogenic rs1586421317 RCV000988043
Pulmonary fibrosis Pathogenic rs121917834 RCV002509156
SFTPC-related disorder Likely pathogenic rs1563221666 RCV003411688
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Benign; Likely benign rs144603526 RCV005899366
Pulmonary Surfactant Metabolism Dysfunction, Dominant Benign; Likely benign; Uncertain significance rs79440568, rs545529507, rs773257848, rs144603526, rs79866047 RCV000350319
RCV000378296
RCV000323776
RCV000280365
RCV000318335
Surfactant metabolism dysfunction, pulmonary, 1 Uncertain significance rs201896861 RCV001248771
Show/Hide Text Mining Associations (51)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35571564, 35812244
Adenocarcinoma of Lung Inhibit 37955668
Asthma Associate 19910179
Autoimmune Diseases Associate 24098648
Bronchopulmonary Dysplasia Associate 17264398
Carcinoma Non Small Cell Lung Associate 16085219, 23671585, 32587780, 36203529
Cardiovascular Diseases Associate 35909187
Central Nervous System Infections Associate 24098648
Cerebral Infarction Associate 24098648
Congenital Deficiency of Pulmonary Surfactant Protein B Associate 24648475, 25657025