SFTPC Gene (Protein Coding)

Surfactant Protein C

GC08P022156
GIFtS:
44
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 ... See more...

Aliases for SFTPC Gene

Aliases for SFTPC Gene

  • Surfactant Protein C 2 3 5
  • Pulmonary Surfactant-Associated Proteolipid SPL(Val) 3 4
  • Pulmonary Surfactant-Associated Protein C 3 4
  • BRICHOS Domain Containing 6 2 3
  • SFTP2 3 4
  • SP-C 3 4
  • SP5 3 4
  • Surfactant, Pulmonary-Associated Protein C 2
  • Pulmonary Surfactant Apoprotein-2 SP-C 3
  • BRICD6 3
  • PSP-C 3
  • SMDP2 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 Pulmonary Fibrosis, Idiopathic. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SFTPC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFTPC Gene

Genomics for SFTPC Gene

GeneHancer (GH) Regulatory Elements for SFTPC Gene

Promoters and enhancers for SFTPC Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J022155 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 750.6 0.0 -13 1.4 PRDM1 EZH2 DPF2 GLIS2 ZIC2 ZNF692 NRF1 ZBTB20 ZBTB48 ZKSCAN1 LGI3 lnc-BMP1-1 lnc-BMP1-2 SFTPC FGF17 NPM2 REEP4 RF00017-6872
GH08J022057 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 750.2 -99.1 -99112 0.4 GLIS2 ZFHX2 ZNF407 KLF1 SFTPC ENSG00000245025 FAM160B2 POLR3D C8orf58 SORBS3 ENSG00000251034 ENSG00000253200 PPP3CC lnc-FGF17-2
GH08J022161 Promoter/Enhancer 0.5 EPDnew dbSUPER 750.6 +4.9 4866 0.1 NONHSAG049714.2 SFTPC lnc-BMP1-1 RF00017-6872
GH08J021917 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.1 -236.5 -236537 4.9 ZBTB40 CTCF SIX5 SMARCE1 POLR2A CREB1 HCFC1 MIXL1 ZNF362 NFYC XPO7 ENSG00000253200 CCAR2 POLR3D C8orf58 ENSG00000251034 FAM160B2 BIN3 SORBS3 FGF17
GH08J022217 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +63.3 63269 5.2 MLX SMARCE1 NR2F1 NR2F6 ZNF362 L3MBTL2 DACH1 ZNF280D RERE SP1 PIWIL2 ENSG00000245025 ENSG00000254064 SFTPC BMP1 NPM2 BIN3 ENSG00000253200 ENSG00000251034 SORBS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFTPC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SFTPC gene promoter:
  • ATF-2
  • C/EBPalpha
  • CREB
  • deltaCREB
  • p53
  • Sp1

Genomic Locations for SFTPC Gene

Genomic Locations for SFTPC Gene
chr8:22,156,913-22,164,479
(GRCh38/hg38)
Size:
7,567 bases
Orientation:
Plus strand
chr8:22,014,426-22,021,992
(GRCh37/hg19)
Size:
7,567 bases
Orientation:
Plus strand

Genomic View for SFTPC Gene

Genes around SFTPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFTPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFTPC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SFTPC Gene

Proteins for SFTPC Gene

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

    Protein Symbol:
    P11686-PSPC_HUMAN
    Recommended name:
    Pulmonary surfactant-associated protein C
    Protein Accession:
    P11686
    Secondary Accessions:
    • A6XNE4
    • B2RE00
    • E9PGX3
    • P11687
    • Q12793
    • Q7Z5D0

    Protein attributes for SFTPC Gene

    Size:
    197 amino acids
    Molecular mass:
    21053 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for SFTPC Gene

Protein Expression for SFTPC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SFTPC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SFTPC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SFTPC Gene

Domains & Families for SFTPC Gene

Gene Families for SFTPC Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SFTPC Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SFTPC Gene

GenScript: Design optimal peptide antigens:
  • SP5 (PSPC_HUMAN)
genes like me logo Genes that share domains with SFTPC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SFTPC Gene

Function for SFTPC Gene

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  2. CRISPR
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Molecular function for SFTPC Gene

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.
GENATLAS Biochemistry:
surfactant-associated glycoprotein c,pulmonary 2 (5-8kDa),alternatively spliced

Phenotypes From GWAS Catalog for SFTPC Gene

Gene Ontology (GO) - Molecular Function for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19815549
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with SFTPC: view
genes like me logo Genes that share phenotypes with SFTPC: view

Human Phenotype Ontology for SFTPC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SFTPC Gene

MGI Knock Outs for SFTPC:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFTPC gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
endosome 4
plasma membrane 3
cytoskeleton 2
mitochondrion 1
nucleus 1
lysosome 1
cytosol 0

Gene Ontology (GO) - Cellular Components for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SFTPC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTPC Gene

Pathways & Interactions for SFTPC Gene

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

SIGNOR curated interactions for SFTPC Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007585 respiratory gaseous exchange IEA --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SFTPC: view

Drugs & Compounds for SFTPC Gene

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(23) Drugs for SFTPC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(26) Additional Compounds for SFTPC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SFTPC: view

Transcripts for SFTPC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SFTPC Gene

(6) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(808) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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: -
SP7:
SP8:

Relevant External Links for SFTPC Gene

GeneLoc Exon Structure for
SFTPC
ECgene alternative splicing isoforms for
SFTPC

Expression for SFTPC Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SFTPC Gene

mRNA expression in normal human tissues for SFTPC Gene
mRNA expression by BioGPS for SFTPC GenemRNA expression by GTEx for SFTPC Gene

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

This gene is overexpressed in Lung (x51.9).

Protein differential expression in normal tissues from HIPED for SFTPC Gene

This gene is overexpressed in Lung (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SFTPC Gene



Protein tissue co-expression partners for SFTPC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SFTPC Gene:

SFTPC

SOURCE GeneReport for Unigene cluster for SFTPC Gene:

Hs.1074

Evidence on tissue expression from TISSUES for SFTPC Gene

  • Lung(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SFTPC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • epiglottis
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • salivary gland
Thorax:
  • breast
  • bronchus
  • diaphragm
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SFTPC: view

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
chimpanzee
(Pan troglodytes)
 Mammalia SFTPC 33 32
  • 99.66 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SFTPC 33 32
  • 84.48 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SFTPC 32
  • 84.21 (n)
SP-C 33
  • 80 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Sftpc 17 33 32
  • 82.02 (n)
rat
(Rattus norvegicus)
 Mammalia Sftpc 32
  • 81.15 (n)
oppossum
(Monodelphis domestica)
 Mammalia SP-C 33
  • 68 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 38 (a)
 OneToMany
-- 33
  • 26 (a)
 OneToMany
-- 33
  • 26 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia sftpc 32
  • 52.98 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23810 32
Species where no ortholog for SFTPC was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for SFTPC (if available)
TreeFam:
Gene Tree for SFTPC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFTPC: view image

Paralogs for SFTPC Gene

No data available for Paralogs for SFTPC Gene

Variants for SFTPC Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SFTPC Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1124 benign, not specified, Idiopathic fibrosing alveolitis, chronic form, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Osteogenesis Imperfecta, Recessive, - 22,164,004(+) G/A coding_sequence_variant, missense_variant
rs1126931 likely-benign, benign, Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Idiopathic fibrosing alveolitis, chronic form 22,164,420(+) C/G/T 3_prime_UTR_variant
rs1139547 benign, Osteogenesis Imperfecta, Recessive, Idiopathic fibrosing alveolitis, chronic form, Pulmonary Surfactant Metabolism Dysfunction, Dominant 22,164,421(+) G/A/T 3_prime_UTR_variant
rs121917834 pathogenic, Surfactant metabolism dysfunction, pulmonary, 2, not provided, Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] 22,163,096(+) T/A/C coding_sequence_variant, missense_variant
rs121917835 pathogenic, Surfactant metabolism dysfunction, pulmonary, 2, Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] 22,164,010(+) T/A coding_sequence_variant, missense_variant

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

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

Variation tolerance for SFTPC Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.36; 94.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFTPC Gene

Human Gene Mutation Database (HGMD)
SFTPC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFTPC

SNP Genotyping and Copy Number Assay Products

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

Disorders for SFTPC Gene

MalaCards: The human disease database

(28) MalaCards diseases for SFTPC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SFTPC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PSPC_HUMAN
  • 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.

Additional Disease Information for SFTPC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (European journal of human genetics : EJHG 2004) 3 4 23 43 56
  2. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. (PMID: 15039969) Tredano M … Bahuau M (American journal of medical genetics. Part A 2004) 3 4 23 43 56
  3. New surfactant protein C gene mutations associated with diffuse lung disease. (PMID: 19443464) Guillot L … Feldmann D (Journal of medical genetics 2009) 3 23 43 56
  4. Genetic association of SP-C with duration of preterm premature rupture of fetal membranes and expression in gestational tissues. (PMID: 19735006) Salminen A … Hallman M (Annals of medicine 2009) 3 23 43 56
  5. Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias. (PMID: 17005585) Markart P … Witt H (The European respiratory journal 2007) 3 23 43 56

ExternalLinks

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