SFTPC (surfactant protein C)

Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6440
Gene name Gene Name - the full gene name approved by the HGNC.
Surfactant protein C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SFTPC
Synonyms (NCBI Gene) Gene synonyms aliases
BRICD6, PSP-C, SFTP2, SMDP2, SP-C, SP5
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PLAGL2 Activation 17618602;18655774
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
178620 10802 ENSG00000168484
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Pulmonary Alveolar Proteinosis hereditary pulmonary alveolar proteinosis rs121917834 N/A
Interstitial Lung Disease Interstitial lung disease 2 rs1586421317 N/A
Pulmonary Fibrosis pulmonary fibrosis rs121917834 N/A
Surfactant Metabolism Dysfunction, Pulmonary Surfactant metabolism dysfunction, pulmonary, 2 rs121917836, rs121918560, rs1554476282, rs1586422427, rs121917834, rs121917835, rs121918559 N/A
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease 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