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SFTPC surfactant protein C [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_003018 Homo sapiens surfactant protein C (SFTPC), transcript variant 1, mRNA. Full Length $286.81
ORF Sequence $172.26
NM_001172410 Homo sapiens surfactant protein C (SFTPC), transcript variant 2, mRNA. Full Length $287.39
ORF Sequence $172.26
NM_001172357 Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA. Full Length $344.23
ORF Sequence $167.04


Gene Symbol SFTPC
Entrez Gene ID 6440
Full Name surfactant protein C
Synonyms PSP-C, SFTP2, SMDP2, SP-C
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8p21
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.
Disorder

MIM: 178620

Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
mRNA NM_003018, 149999607
Protein NP_003009, 149999608
Product pulmonary surfactant-associated protein C isoform 1 proprotein
RefSeq Status REVIEWED
mRNA NM_001172410, 288915520
Protein NP_001165881, 288915521
Product pulmonary surfactant-associated protein C isoform 1 proprotein
RefSeq Status REVIEWED
mRNA NM_001172357, 288915542
Protein NP_001165828, 288915543
Product pulmonary surfactant-associated protein C isoform 2 proprotein
RefSeq Status REVIEWED
Homo sapiens (human)SFTPCNP_001165881.1
Pan troglodytes (chimpanzee)SFTPCXP_519645.2
Canis lupus familiaris (dog)SFTPCXP_534578.2
Bos taurus (cattle)SFTPCNP_776887.1
Mus musculus (house mouse)SftpcNP_035489.1
Rattus norvegicus (Norway rat)SftpcNP_059038.1
Process
IDNameEvidence
GO:0007585respiratory gaseous exchangeIEA
GO:0007623circadian rhythmIEA
GO:0009725response to hormone stimulusIEA
GO:0009749response to glucose stimulusIEA
GO:0032496response to lipopolysaccharideIEA
GO:0032526response to retinoic acidIEA
GO:0051260protein homooligomerizationIEA
GO:0051384response to glucocorticoid stimulusIEA
GO:0051591response to cAMPIEA
GO:0055093response to hyperoxiaIEA
GO:0070741response to interleukin-6IEA
GO:0070848response to growth factor stimulusIEA
GO:0071260cellular response to mechanical stimulusIEA
GO:0071732cellular response to nitric oxideIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005615extracellular spaceIEA
GO:0005737cytoplasmIEA
GO:0005771multivesicular bodyIEA
GO:0042599lamellar bodyIEA
Function
IDNameEvidence
GO:0042803protein homodimerization activityIEA
GeneCards SFTPC
UniProt E9PGX3, P11686
MIM 178620
Ensembl ENSG00000168484
HGNC 10802
HPRD 01520

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