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Aliases for SFTPC Gene

Aliases for SFTPC Gene

  • Surfactant Protein C 2 3
  • SFTP2 3 4 6
  • Pulmonary Surfactant-Associated Proteolipid SPL(Val) 3 4
  • BRICHOS Domain Containing 6 2 3
  • SMDP2 3 6
  • SP-C 3 4
  • SP5 3 4
  • Surfactant, Pulmonary-Associated Protein C 2
  • Pulmonary Surfactant-Associated Protein C 3
  • Pulmonary Surfactant Apoprotein-2 SP-C 3
  • BRICD6 3
  • PSP-C 3

External Ids for SFTPC Gene

Previous HGNC Symbols for SFTPC Gene

  • SFTP2

Previous GeneCards Identifiers for SFTPC Gene

  • GC08P021778
  • GC08P022368
  • GC08P021836
  • GC08P022041
  • GC08P022072
  • GC08P022075
  • GC08P022019
  • GC08P020561

Summaries for SFTPC Gene

Entrez Gene Summary for SFTPC 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 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]

GeneCards Summary for SFTPC Gene

SFTPC (Surfactant Protein C) is a Protein Coding gene. Diseases associated with SFTPC include surfactant metabolism dysfunction, pulmonary, 2 and desquamative interstitial pneumonia. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for SFTPC Gene

  • Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces

Gene Wiki entry for SFTPC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFTPC Gene

Genomics for SFTPC Gene

Regulatory Elements for SFTPC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SFTPC Gene

22,156,913 bp from pter
22,164,479 bp from pter
7,567 bases
Plus strand

Genomic View for SFTPC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SFTPC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTPC Gene

Proteins for SFTPC Gene

  • Protein details for SFTPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pulmonary surfactant-associated protein C
    Protein Accession:
    Secondary Accessions:
    • A6XNE4
    • B2RE00
    • E9PGX3
    • P11687
    • Q12793
    • Q7Z5D0

    Protein attributes for SFTPC Gene

    197 amino acids
    Molecular mass:
    21053 Da
    Quaternary structure:
    No Data Available
    • Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C)

    Three dimensional structures from OCA and Proteopedia for SFTPC Gene

    Alternative splice isoforms for SFTPC Gene


neXtProt entry for SFTPC Gene

Proteomics data for SFTPC Gene at MOPED

Post-translational modifications for SFTPC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SFTPC Gene

Domains for SFTPC Gene

Gene Families for SFTPC Gene

  • BRICD :BRICHOS domain containing

Suggested Antigen Peptide Sequences for SFTPC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P11686
  • Contains 1 BRICHOS domain.
genes like me logo Genes that share domains with SFTPC: view

Function for SFTPC Gene

Molecular function for SFTPC Gene

GENATLAS Biochemistry:
surfactant-associated glycoprotein c,pulmonary 2 (5-8kDa),alternatively spliced
UniProtKB/Swiss-Prot Function:
Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces

Gene Ontology (GO) - Molecular Function for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19815549
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with SFTPC: view
genes like me logo Genes that share phenotypes with SFTPC: view

Animal Models for SFTPC Gene

MGI Knock Outs for SFTPC:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SFTPC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SFTPC Gene

Localization for SFTPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFTPC Gene

Secreted, extracellular space, surface film.

Subcellular locations from

Jensen Localization Image for SFTPC Gene COMPARTMENTS Subcellular localization image for SFTPC gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
cytosol 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm --
GO:0005771 multivesicular body IEA --
GO:0097208 alveolar lamellar body IEA --
genes like me logo Genes that share ontologies with SFTPC: view

Pathways for SFTPC Gene

genes like me logo Genes that share pathways with SFTPC: view

Pathways by source for SFTPC Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007585 respiratory gaseous exchange IEA --
GO:0007623 circadian rhythm IEA --
GO:0009725 response to hormone --
GO:0009749 response to glucose IEA --
GO:0010033 response to organic substance --
genes like me logo Genes that share ontologies with SFTPC: view

Compounds for SFTPC Gene

(49) Novoseek inferred chemical compound relationships for SFTPC Gene

Compound -log(P) Hits PubMed IDs
dppg 86.7 21
survanta 83.6 7
dppc 81.7 33
popg 70.6 8
phospholipid 68.8 38
genes like me logo Genes that share compounds with SFTPC: view

Transcripts for SFTPC Gene

Unigene Clusters for SFTPC Gene

Surfactant protein C:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SFTPC

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFTPC Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - -
SP6: -

Relevant External Links for SFTPC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SFTPC Gene

mRNA expression in normal human tissues for SFTPC Gene

mRNA differential expression in normal tissues according to GTEx for SFTPC Gene

This gene is overexpressed in Lung (51.9).

Protein differential expression in normal tissues for SFTPC Gene

This gene is overexpressed in Lung (66.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SFTPC Gene

SOURCE GeneReport for Unigene cluster for SFTPC Gene Hs.1074

genes like me logo Genes that share expressions with SFTPC: view

Expression partners for SFTPC Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SFTPC Gene

Orthologs for SFTPC Gene

This gene was present in the common ancestor of chordates.

Orthologs for SFTPC Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SFTPC 35
  • 84.48 (n)
  • 84.66 (a)
  • 84 (a)
(Canis familiaris)
Mammalia SFTPC 35
  • 84.21 (n)
  • 83.68 (a)
SP-C 36
  • 80 (a)
(Mus musculus)
Mammalia Sftpc 35
  • 82.02 (n)
  • 82.2 (a)
Sftpc 16
Sftpc 36
  • 81 (a)
(Pan troglodytes)
Mammalia SFTPC 35
  • 99.66 (n)
  • 98.98 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Sftpc 35
  • 81.15 (n)
  • 82.72 (a)
(Monodelphis domestica)
Mammalia SP-C 36
  • 68 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 26 (a)
-- 36
  • 26 (a)
-- 36
  • 38 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sftpc 35
  • 52.98 (n)
  • 47.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23810 35
Species with no ortholog for SFTPC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SFTPC Gene

Gene Tree for SFTPC (if available)
Gene Tree for SFTPC (if available)

Paralogs for SFTPC Gene

No data available for Paralogs for SFTPC Gene

Variants for SFTPC Gene

Sequence variations from dbSNP and Humsavar for SFTPC Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs2070684 -- 22,162,781(+) GACAG(A/C)GGGGC intron-variant
rs2236739 -- 22,162,299(+) TGGCT(A/G)GGGGA intron-variant
rs4995702 -- 22,159,429(+) GGGAA(A/G)TTTGG intron-variant
rs6557857 -- 22,160,409(+) AGTTC(A/G)AGACC upstream-variant-2KB, intron-variant
rs8192310 -- 22,159,052(+) AGGGC(A/G)CCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SFTPC Gene

Variant ID Type Subtype PubMed ID
essv19243 CNV CNV 17122850
essv21913 CNV CNV 17122850
dgv7756n71 CNV Loss 21882294
nsv831263 CNV Loss 17160897
nsv528590 CNV Loss 19592680
nsv890654 CNV Loss 21882294
nsv465613 CNV Loss 19166990
dgv7758n71 CNV Loss 21882294
nsv890657 CNV Loss 21882294
nsv831264 CNV Gain+Loss 17160897
dgv881n27 CNV Loss 19166990
nsv470204 CNV Loss 18288195
nsv527293 CNV Loss 19592680
nsv890660 CNV Loss 21882294
nsv890661 CNV Loss 21882294
dgv7759n71 CNV Loss 21882294
dgv7760n71 CNV Loss 21882294
dgv7761n71 CNV Loss 21882294
nsv890670 CNV Loss 21882294

Relevant External Links for SFTPC Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPC Gene

Disorders for SFTPC Gene

(1) OMIM Diseases for SFTPC Gene (178620)


  • Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269 PubMed:11991887, ECO:0000269 PubMed:15039969, ECO:0000269 PubMed:15293602, ECO:0000269 PubMed:15557112, ECO:0000269 PubMed:15572558}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Respiratory distress syndrome in premature infants (RDS) [MIM:267450]: A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called hyaline membranes. {ECO:0000269 PubMed:14735158}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SFTPC Gene

(38) Novoseek inferred disease relationships for SFTPC Gene

Disease -log(P) Hits PubMed IDs
lung diseases interstitial 82.5 34
respiratory distress syndrome 77.7 12
pulmonary alveolar proteinosis 74.3 6
lung diseases 68.3 34
pulmonary fibrosis 58.8 14

Relevant External Links for SFTPC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SFTPC: view

No data available for Genatlas for SFTPC Gene

Publications for SFTPC Gene

  1. Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease. (PMID: 14735158) Lahti M. … Hallman M. (Eur. J. Hum. Genet. 2004) 3 4 23 48
  2. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. (PMID: 15039969) Tredano M. … Bahuau M. (Am. J. Med. Genet. A 2004) 3 4 23 48
  3. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. (PMID: 15293602) Brasch F. … Beers M.F. (Eur. Respir. J. 2004) 3 4 23
  4. Hydroxychloroquine and surfactant protein C deficiency. (PMID: 15647591) Rosen D.M. … Waltz D.A. (N. Engl. J. Med. 2005) 3 4 23
  5. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. (PMID: 15516475) Lawson W.E. … du Bois R.M. (Thorax 2004) 3 23 48

Products for SFTPC Gene

Sources for SFTPC Gene

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