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Aliases for SFTPC Gene

Aliases for SFTPC Gene

  • Surfactant Protein C 2 3 5
  • Pulmonary Surfactant-Associated Proteolipid SPL(Val) 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 chronic respiratory distress with surfactant metabolism deficiency. Among its related pathways are Disorders of transmembrane transporters and Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5). 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

Enhancers for SFTPC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SFTPC on UCSC Golden Path with GeneCards custom track

Genomic Location for SFTPC Gene

Chromosome:
8
Start:
22,156,913 bp from pter
End:
22,164,479 bp from pter
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 StructureGene Density

RefSeq DNA sequence for SFTPC Gene

Proteins for SFTPC Gene

  • 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

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 & Families for SFTPC Gene

Gene Families for SFTPC Gene

Suggested Antigen Peptide Sequences for SFTPC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11686

UniProtKB/Swiss-Prot:

PSPC_HUMAN :
  • Contains 1 BRICHOS domain.
Domain:
  • 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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SFTPC Gene COMPARTMENTS Subcellular localization image for SFTPC gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
extracellular 5
plasma membrane 3
cytoskeleton 2
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SFTPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0097486 multivesicular body lumen TAS --
genes like me logo Genes that share ontologies with SFTPC: view

Pathways & Interactions for SFTPC Gene

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

Gene Ontology (GO) - Biological Process for SFTPC Gene

None

No data available for SIGNOR curated interactions for SFTPC Gene

Drugs & Compounds for SFTPC Gene

(20) Drugs for SFTPC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(29) 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

Unigene Clusters for SFTPC Gene

Surfactant protein C:
Representative Sequences:

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

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 (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, PaxDb, and MOPED for SFTPC Gene



SOURCE GeneReport for Unigene cluster for SFTPC Gene Hs.1074

genes like me logo Genes that share expression patterns with SFTPC: view

Protein tissue co-expression partners for SFTPC Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia SFTPC 35
  • 84.48 (n)
  • 84.66 (a)
SFTPC 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SFTPC 35
  • 84.21 (n)
  • 83.68 (a)
SP-C 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sftpc 35
  • 82.02 (n)
  • 82.2 (a)
Sftpc 16
Sftpc 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SFTPC 35
  • 99.66 (n)
  • 98.98 (a)
SFTPC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sftpc 35
  • 81.15 (n)
  • 82.72 (a)
oppossum
(Monodelphis domestica)
Mammalia SP-C 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 26 (a)
OneToMany
-- 36
  • 26 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SFTPC (if available)
TreeFam:
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
VAR_007453 -
VAR_016175 -
VAR_026753 Pulmonary surfactant metabolism dysfunction 2 (SMDP2)
VAR_026754 Pulmonary surfactant metabolism dysfunction 2 (SMDP2)
VAR_026755 Pulmonary surfactant metabolism dysfunction 2 (SMDP2)

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

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)

Relevant External Links for SFTPC Gene

HapMap Linkage Disequilibrium report
SFTPC
Human Gene Mutation Database (HGMD)
SFTPC

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

Disorders for SFTPC Gene

MalaCards: The human disease database

(30) MalaCards diseases for SFTPC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, 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.

Relevant External Links for SFTPC

Genetic Association Database (GAD)
SFTPC
Human Genome Epidemiology (HuGE) Navigator
SFTPC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFTPC
genes like me logo Genes that share disorders with SFTPC: view

No data available for Genatlas for SFTPC Gene

Publications for SFTPC Gene

  1. 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 67
  2. The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment. (PMID: 16709565) Johansson H. … Johansson J. (J. Biol. Chem. 2006) 2 3 23
  3. The pulmonary surfactant protein C (SP-C) precursor is a type II transmembrane protein. (PMID: 1859376) Keller A. … SchAofer K.P. (Biochem. J. 1991) 2 3 23
  4. The SP-C promoter facilitates alveolar type II epithelial cell-specific plasmid nuclear import and gene expression. (PMID: 20054353) Degiulio J.V. … Dean D.A. (Gene Ther. 2010) 3 23
  5. Genetic disorders of surfactant dysfunction. (PMID: 19220077) Wert S.E. … Nogee L.M. (Pediatr. Dev. Pathol. 2009) 3 23

Products for SFTPC Gene

Sources for SFTPC Gene

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