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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]
SFTPC (Surfactant Protein C) is a Protein Coding gene. Diseases associated with SFTPC include Surfactant Metabolism Dysfunction, Pulmonary, 2 and Pulmonary Fibrosis, Idiopathic. Among its related pathways are Lung fibrosis and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 19815549 |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) | ||
2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
3 | Surfactant metabolism | ||
4 | HIV Life Cycle |
.45
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5 | Diseases of metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007585 | respiratory gaseous exchange | IEA | -- |
GO:0044267 | cellular protein metabolic process | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SFTPC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SFTPC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SFTPC 30 |
|
||
SP-C 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Sftpc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sftpc 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SP-C 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sftpc 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23810 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
908425 | Uncertain Significance: Idiopathic Pulmonary Fibrosis; Surfactant metabolism dysfunction, pulmonary, 2 | 22,163,115(+) |
G/A NM_001317778.2(SFTPC):c.237G>A (p.Gln79=) |
SYNONYMOUS | |
908426 | Benign: Idiopathic Pulmonary Fibrosis; Surfactant metabolism dysfunction, pulmonary, 2 | 22,163,181(+) |
C/T NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) |
SYNONYMOUS | |
908497 | Likely Benign: Idiopathic Pulmonary Fibrosis; Surfactant metabolism dysfunction, pulmonary, 2 | 22,164,418(+) |
G/A NM_001317778.2(SFTPC):c.*171G>A |
THREE_PRIME_UTR | |
909206 | Benign: Idiopathic Pulmonary Fibrosis; Surfactant metabolism dysfunction, pulmonary, 2 | 22,162,599(+) |
G/A NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) |
MISSENSE_VARIANT,INTRON | |
909348 | Uncertain Significance: Idiopathic Pulmonary Fibrosis; Surfactant metabolism dysfunction, pulmonary, 2 | 22,164,433(+) |
G/A NM_001317778.2(SFTPC):c.*186G>A |
THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12054n54 | CNV | loss | 21841781 |
dgv2060e212 | CNV | loss | 25503493 |
dgv881n27 | CNV | loss | 19166990 |
esv2759604 | CNV | loss | 17122850 |
nsv465613 | CNV | loss | 19166990 |
nsv470204 | CNV | loss | 18288195 |
nsv527293 | CNV | loss | 19592680 |
nsv528590 | CNV | loss | 19592680 |
nsv610771 | CNV | loss | 21841781 |
nsv831263 | CNV | loss | 17160897 |
nsv831264 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
surfactant metabolism dysfunction, pulmonary, 2 |
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pulmonary fibrosis, idiopathic |
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pulmonary alveolar proteinosis |
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lung disease |
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interstitial lung disease |
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