Homo sapiens Gene: SFTPC
Summary
InnateDB Gene IDBG-10368.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SFTPC
Gene Name surfactant protein C
Synonyms BRICD6; PSP-C; SFTP2; SMDP2; SP-C;
Species Homo sapiens
Ensembl Gene ENSG00000168484
Encoded Proteins
surfactant protein C
surfactant protein C
surfactant protein C
surfactant protein C
surfactant protein C
surfactant protein C
surfactant protein C
surfactant protein C
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
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 and 10%% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:22156913-22164479
Strand Forward strand
Band p21.3
Transcripts
ENST00000318561 ENSP00000316152
ENST00000437090 ENSP00000407931
ENST00000522880
ENST00000524350
ENST00000524318
ENST00000521315 ENSP00000430410
ENST00000520605 ENSP00000430266
ENST00000522109 ENSP00000429496
ENST00000524255 ENSP00000429552
ENST00000523296 ENSP00000429619
ENST00000518615 ENSP00000428817
ENST00000522630
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0007585 respiratory gaseous exchange
GO:0007623 circadian rhythm
GO:0009725 response to hormone
GO:0009749 response to glucose
GO:0010033 response to organic substance
GO:0032496 response to lipopolysaccharide
GO:0032526 response to retinoic acid
GO:0033189 response to vitamin A
GO:0051260 protein homooligomerization
GO:0051384 response to glucocorticoid
GO:0051591 response to cAMP
GO:0055093 response to hyperoxia
GO:0070741 response to interleukin-6
GO:0070848 response to growth factor
GO:0071260 cellular response to mechanical stimulus
GO:0071732 cellular response to nitric oxide
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005771 multivesicular body
GO:0097208 alveolar lamellar body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL E5RG93
UniProt Splice Variant
Entrez Gene 6440
UniGene Hs.731645
RefSeq NM_001172357 NM_001172410 NM_003018 XM_006716379 XM_006716380
HUGO HGNC:10802
OMIM 178620
CCDS CCDS43722 CCDS55209
HPRD 01520
IMGT
EMBL AC105206
GenPept
RNA Seq Atlas 6440