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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 ... See more...
Aliases for SFTPC Gene
Aliases for SFTPC Gene
External Ids for SFTPC Gene
- HGNC: 10802
- NCBI Entrez Gene: 6440
- Ensembl: ENSG00000168484
- OMIM®: 178620
- UniProtKB/Swiss-Prot: P11686
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
-
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 Lung fibrosis and HIV Life Cycle. 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.
Additional gene information for SFTPC Gene
- HGNC (10802)
- NCBI Entrez Gene (6440)
- Ensembl (ENSG00000168484)
- OMIM® (178620)
- UniProtKB/Swiss-Prot (P11686)
- Open Targets Platform(ENSG00000168484)
- Monarch Initiative
- Search for SFTPC at DataMed
- Search for SFTPC at HumanCyc
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 Pubs
Promoters and enhancers for SFTPC Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFTPC
- 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
Latest Assembly
- chr8:22,156,913-22,164,479
- (GRCh38/hg38)
- Size:
- 7,567 bases
- Orientation:
- Plus strand
Previous Assembly
- chr8:22,014,896-22,021,992
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 7,097 bases
- Orientation:
- Plus strand
- chr8:22,014,426-22,021,992
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 8p21.3 by HGNC
- 8p21.3 by Entrez Gene
- 8p21.3 by Ensembl
SFTPC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for SFTPC Gene
Post-translational modifications for SFTPC Gene
Other Protein References for SFTPC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SFTPC / Surfactant Protein C Antibody (LS-B10952) and SFTPC / Surfactant Protein C Antibody (LS-B9161)
- G Biosciences Immunotag™ SFTPC Antibody
-
Custom Antibody ServicesOriGene Antibodies for SFTPC
- Novus Biologicals Antibodies for SFTPC
-
Abcam antibodies for SFTPC
- Invitrogen Antibodies for SFTPC (AFLGC-Sftpc)
-
Boster Bio Antibodies for SFTPC
-
Santa Cruz Biotechnology (SCBT) Antibodies for SFTPC
Protein products for research
-
OriGene Purified Proteins for SFTPC
- Search Origene for MassSpec and Protein Over-expression Lysates for SFTPC
- Origene Custom Protein Services for SFTPC
-
Abcam proteins for SFTPC
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
- Predicted secreted proteins
Protein Domains for SFTPC Gene
- InterPro:
- Blocks:
-
- BRICHOS domain
- Surfactant-associated polypeptide/chondromodulin-I precursor
- ProtoNet:
Suggested Antigen Peptide Sequences for SFTPC Gene
- GenScript: Design optimal peptide antigens:
-
- SP5 (PSPC_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SFTPC Gene
Function for SFTPC Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 19815549 |
| GO:0042802 | identical protein binding | IPI | 25416956 |
Phenotypes for SFTPC Gene
- MGI mutant phenotypes for SFTPC:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SFTPC:
Animal Models for SFTPC Gene
- MGI Knock Outs for SFTPC:
-
- Sftpc Sftpc<tm1Swg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SFTPC - Starting at $85 >
- * SFTPC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SFTPC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SFTPC
-
Santa Cruz Biotechnology (SCBT) CRISPR for SFTPC
miRNA for SFTPC Gene
- miRTarBase miRNAs that target SFTPC
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SFTPC
- Browse OriGene Inhibitory RNA Products For SFTPC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPC
Clone products for research
- Applied Biological Materials (abm): Clones for SFTPC - Starting at $45 >
- * SFTPC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG227114
- MR227114
- MR227114L3
- MR227114L4
- RC203246
- RC203246L1
- RC203246L2
- RC203246L3
- RC203246L4
- RC229661
- RC229661L3
- RC229661L4
- RC229672
- RC229672L3
- RC229672L4
- RG203246
- RG229661
- RG229672
- RR215494
- RR215494L3
- RR215494L4
- MR227114L3V
- MR227114L4V
- RC203246L1V
- RC203246L2V
- RC203246L3V
- RC203246L4V
- RC229661L3V
- RC229661L4V
- RC229672L3V
- RC229672L4V
- RR215494L3V
- RR215494L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SFTPC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SFTPC
Cell Lines for research
-
Horizon Cell Lines for SFTPC
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endosome | 4 |
| plasma membrane | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTPC Gene
Pathways & Interactions for SFTPC Gene
| 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
|
|
| 5 | Diseases of metabolism | ||
Pathways by source for SFTPC Gene
2 BioSystems pathways for SFTPC Gene
11 Reactome pathways for SFTPC Gene
- ABC transporter disorders
- Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
Interacting Proteins for SFTPC Gene
Selected Interacting proteins:
P11686-PSPC_HUMAN
ENSP00000316152
for SFTPC Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SFTPC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007585 | respiratory gaseous exchange | IEA | -- |
| GO:0044267 | cellular protein metabolic process | TAS | -- |
Transcripts for SFTPC Gene
mRNA/cDNA for SFTPC Gene
- 14 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000318561 997 nts (view in UCSC)
- ENST00000437090 773 nts (view in UCSC)
- ENST00000518615 377 nts (view in UCSC)
- ENST00000520605 519 nts (view in UCSC)
- ENST00000521315 1046 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SFTPC - Starting at $85 >
- * SFTPC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SFTPC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SFTPC
-
Santa Cruz Biotechnology (SCBT) CRISPR for SFTPC
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SFTPC
- Browse OriGene Inhibitory RNA Products For SFTPC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPC
Clone products for research
- Applied Biological Materials (abm): Clones for SFTPC - Starting at $45 >
- * SFTPC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG227114
- MR227114
- MR227114L3
- MR227114L4
- RC203246
- RC203246L1
- RC203246L2
- RC203246L3
- RC203246L4
- RC229661
- RC229661L3
- RC229661L4
- RC229672
- RC229672L3
- RC229672L4
- RG203246
- RG229661
- RG229672
- RR215494
- RR215494L3
- RR215494L4
- MR227114L3V
- MR227114L4V
- RC203246L1V
- RC203246L2V
- RC203246L3V
- RC203246L4V
- RC229661L3V
- RC229661L4V
- RC229672L3V
- RC229672L4V
- RR215494L3V
- RR215494L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SFTPC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SFTPC
| 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
Expression for SFTPC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Lung (Respiratory System)
- Epithelial Cells
-
Eye (Sensory Organs)
- Cholinergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- Cholinergic Amacrine Cells Inner Nuclear Layer
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for SFTPC Gene
This gene is overexpressed in Lung (x51.9).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFTPC
SOURCE GeneReport for Unigene cluster for SFTPC Gene:
Hs.1074Evidence on tissue expression from TISSUES for SFTPC Gene
- Lung(5)
- Heart(2.3)
- Intestine(2.3)
- Skin(2.2)
- Spleen(2.1)
- Thyroid gland(2.1)
- Blood(2)
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
Primer products for research
-
OriGene qPCR primer pairs for SFTPC
-
OriGene qPCR primer pairs and template standards for SFTPC
Gene Expression Assays for research
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.
| 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 |
|
- Species where no ortholog for SFTPC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFTPC Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPC Gene
Disorders for SFTPC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| surfactant metabolism dysfunction, pulmonary, 2 |
|
|
| pulmonary fibrosis, idiopathic |
|
|
| pulmonary alveolar proteinosis |
|
|
| lung disease |
|
|
| interstitial lung disease |
|
|
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for SFTPC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for SFTPC Gene
Publications for SFTPC Gene
- 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 41
- 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 41
- New surfactant protein C gene mutations associated with diffuse lung disease. (PMID: 19443464) Guillot L … Feldmann D (Journal of medical genetics 2009) 3 23 41
- 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 41
- Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias. (PMID: 17005585) Markart P … Witt H (The European respiratory journal 2007) 3 23 41
ExternalLinks
Products for SFTPC Gene
- Custom Antibody ServicesOriGene Antibodies for SFTPC
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- OriGene Purified Proteins for SFTPC
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online: Show 39 available Surfactant Protein C Antibodies ranked by validation data
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- antibodies-online: Show 10 available Surfactant Protein C Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for SFTPC
- Search Santa Cruz Biotechnology (SCBT) for SFTPC siRNA/shRNA
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- Horizon Cell Lines for SFTPC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SFTPC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SFTPC
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPC
- Boster Bio Antibodies for SFTPC
- Browse Boster Bio ELISA Kits
Sources for SFTPC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
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- (115) NCBI Bookshelf
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- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
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- (148) RNAcentral
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- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
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- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB