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SFTPC Gene

protein-coding   GIFtS: 57
GCID: GC08P022019

Surfactant Protein C

(Previous names: surfactant, pulmonary-associated protein C)
(Previous symbol: SFTP2)
  See SFTPC-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Surfactant Protein C1 2     SMDP22 5
SFTP21 2 3 5     Surfactant, Pulmonary-Associated Protein C1
BRICHOS Domain Containing 61 2     BRICD62
Pulmonary Surfactant-Associated Proteolipid SPL(Val)2 3     PSP-C2
SP-C2 3     Pulmonary Surfactant Apoprotein-2 SP-C2
SP52 3     Pulmonary Surfactant-Associated Protein C2

External Ids:    HGNC: 108021   Entrez Gene: 64402   Ensembl: ENSG000001684847   OMIM: 1786205   UniProtKB: P116863   
ORGUL members:         

Export aliases for SFTPC gene to outside databases

Previous GC identifers: GC08P021778 GC08P022368 GC08P021836 GC08P022041 GC08P022072 GC08P022075 GC08P020561


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dysfunction, and surfactant metabolism dysfunction, pulmonary, 2. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686
Function: 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 (Pulmonary surfactant-associated protein C) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SFTPC gene promoter:
         CREB   Sp1   p53   deltaCREB   ATF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFTPC promoter sequence
   Search Chromatin IP Primers for SFTPC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SFTPC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21

SFTPC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFTPC gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P022019:  view genomic region     (about GC identifiers)

Start:
22,014,426 bp from pter      End:
22,021,992 bp from pter
Size:
7,567 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686 (See protein sequence)
Recommended Name: Pulmonary surfactant-associated protein C precursor  
Size: 197 amino acids; 21053 Da
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)
1 PDB 3D structure from and Proteopedia for SFTPC:
2YAD (3D)    
Secondary accessions: A6XNE4 B2RE00 E9PGX3 P11687 Q12793 Q7Z5D0
Alternative splicing: 2 isoforms:  P11686-1   P11686-2   

Explore the universe of human proteins at neXtProt for SFTPC: NX_P11686

Explore proteomics data for SFTPC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SFTPC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001165828.1  NP_001165881.1  NP_003009.2  

    ENSEMBL proteins: 
     ENSP00000316152   ENSP00000430410   ENSP00000407931   ENSP00000430266   ENSP00000429496  
     ENSP00000429552   ENSP00000429619   ENSP00000428817  

    SFTPC Human Recombinant Protein Products:

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    Novus Biologicals SFTPC Protein
    Novus Biologicals SFTPC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SFTPC 

     
    antibodies-online proteins for SFTPC (2 products) 

     
    antibodies-online peptides for SFTPC

    SFTPC Antibody Products:

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    antibodies-online antibodies for SFTPC (56 products) 

    SFTPC Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SFTPC 
    antibodies-online kits for SFTPC (30 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BRICD: BRICHOS domain containing

    4 InterPro protein domains:
     IPR001729 Pulm_surfact_AP
     IPR015091 Surfactant_protein_propep
     IPR018051 SP-C_palmitoylation_site
     IPR007084 BRICHOS_dom

    Graphical View of Domain Structure for InterPro Entry P11686

    ProtoNet protein and cluster: P11686

    2 Blocks protein domains:
    IPB007084 BRICHOS domain
    IPB011560 Surfactant-associated polypeptide/chondromodulin-I precursor


    UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686
    Similarity: Contains 1 BRICHOS domain


    Find genes that share domains with SFTPC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PSPC_HUMAN, P11686
    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 entry for SFTPC:
    surfactant-associated glycoprotein c,pulmonary 2 (5-8kDa),alternatively spliced

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19815549
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with SFTPC           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Sftpc):
     behavior/neurological  cardiovascular system  growth/size/body  immune system  mortality/aging 
     no phenotypic analysis  reproductive system  respiratory system  tumorigenesis  vision/eye 

    Find genes that share phenotypes with SFTPC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sftpctm1Swg for SFTPC

       genOway: Develop your customized and physiologically relevant rodent model for SFTPC

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate SFTPC:
    hsa-miR-3667-5p hsa-miR-1178 hsa-miR-3611
    SwitchGear 3'UTR luciferase reporter plasmidSFTPC 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    OriGene ORF clones in mouse, rat for SFTPC
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    GenScript: all cDNA clones in your preferred vector (see all 3): SFTPC (NM_003018)
    Sino Biological Human cDNA Clone for SFTPC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFTPC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFTPC

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PSPC_HUMAN, P11686: Secreted, extracellular space, surface film
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    cytoskeleton2
    endoplasmic reticulum2
    endosome2
    cytosol1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005771multivesicular body IEA--
    GO:0097208alveolar lamellar body IEA--

    Find genes that share ontologies with SFTPC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including SFTPC: 
              Lung Cancer in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SFTPC

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SFTPC (P116863 ENSP000003161524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WWP2O003083, ENSP000003482834I2D: score=1 STRING: ENSP00000348283
    NEDD4P469343, ENSP000003455304I2D: score=1 STRING: ENSP00000345530
    PQBP1O608283, ENSP000003657474I2D: score=1 STRING: ENSP00000365747
    WWP1Q9H0M03, ENSP000002654284I2D: score=1 STRING: ENSP00000265428
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007585respiratory gaseous exchange IEA--
    GO:0007623circadian rhythm IEA--
    GO:0009725response to hormone ----
    GO:0009749response to glucose IEA--
    GO:0010033response to organic substance ----

    Find genes that share ontologies with SFTPC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SFTPC (PSPC)

    Selected Novoseek inferred chemical compound relationships for SFTPC gene (see all 49)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dppg 86.7 36 7794949 (3), 11423403 (2), 10866961 (2), 1616924 (2) (see all 16)
    survanta 83.6 9 11420417 (3), 7626919 (1), 9436178 (1), 2011428 (1) (see all 5)
    dppc 81.7 39 10821681 (3), 7794949 (2), 1616924 (2), 10866961 (2) (see all 27)
    popg 70.6 13 11423403 (2), 11404266 (2), 19464999 (1), 18390619 (1) (see all 6)
    phospholipid 68.8 48 14514353 (3), 18339301 (3), 19917227 (2), 8695661 (2) (see all 32)
    infasurf 65.9 1 16019988 (1)
    curosurf 63.7 4 11420417 (3), 18175392 (1)
    phosphatidylcholine 58.2 9 12030716 (2), 9352640 (1), 18390619 (1), 11434447 (1) (see all 7)
    lipid 53.2 80 10825440 (3), 1390835 (3), 8913491 (3), 8996637 (3) (see all 47)
    1,2-dipalmitoyl-sn-glycero-3-phosphocholine 47.4 2 8599660 (1), 19399006 (1)



    Find genes that share compounds with SFTPC           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SFTPC gene (3 alternative transcripts): 
    NM_001172357.1  NM_001172410.1  NM_003018.3  

    Unigene Cluster for SFTPC:

    Surfactant protein C
    Hs.1074  [show with all ESTs]
    Unigene Representative Sequence: AK058094
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522880 ENST00000524350 ENST00000524318(uc003xaw.4) ENST00000318561(uc011kza.1 uc003xax.4 uc003xay.4)
    ENST00000521315(uc003xaz.3) ENST00000437090 ENST00000520605 ENST00000522109
    ENST00000524255 ENST00000523296 ENST00000518615 ENST00000522630
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate SFTPC:
    hsa-miR-3667-5p hsa-miR-1178 hsa-miR-3611
    SwitchGear 3'UTR luciferase reporter plasmidSFTPC 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat SFTPC

    Additional mRNA sequence: 

    AK058094.1 AK298119.1 AK315742.1 BC005913.1 BC105594.1 DQ884411.1 J03517.1 J03553.1 

    23 DOTS entries:

    DT.449581  DT.95174346  DT.97864558  DT.100059600  DT.95174323  DT.92456661  DT.100643043  DT.92456671 
    DT.97864561  DT.120643051  DT.92456643  DT.91643594  DT.95174343  DT.100639993  DT.92456642  DT.120643063 
    DT.92456638  DT.92456672  DT.95174317  DT.95174336  DT.97864596  DT.95081761  DT.95174344 

    Selected AceView cDNA sequences (see all 808):

    BQ029122 BM992501 BQ030380 AW268695 AA317183 BM991211 BM992624 BU677646 
    BM993370 BQ029454 BM992917 BM988977 BM992909 BM992643 CA435685 BM992540 
    BQ027183 BU681387 CA442659 BU688799 BQ029533 CA434246 T29075 CA435397 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SFTPC (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for SFTPC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SFTPC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGTGAGCA
    SFTPC Expression
    About this image


    SFTPC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)    fully expand to see all 7 entries
             Alveolar Epithelial Type 2 Cells Alveoli
             Alveolar type II cells
     
     Epithelial Cells
             Alveolar Epithelial Type 2 Cells Alveoli
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Cholinergic Amacrine Cells Inner Nuclear Layer
    SFTPC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SFTPC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1074
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SFTPC: 
              Lung Cancer in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SFTPC
    OriGene qSTAR qPCR primer pairs in human, mouse for SFTPC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SFTPC
    QuantiTect SYBR Green Assays in human, mouse, rat SFTPC
    QuantiFast Probe-based Assays in human, mouse, rat SFTPC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SFTPC gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sftpc1 , 5 surfactant associated protein C1, 5 82.02(n)1
    82.2(a)1
      14 (36.32 cM)5
    203891  NM_011359.21  NP_035489.21 
     705209415 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    38(a)
    26(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343608.1(422244-430974)
    GL343322.1(1047504-1060997)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238102 Xenopus laevis transcribed sequence with strong similarity to protein spP04406 (H.sapiens) G3P2_HUMAN Glyceraldehyde 3-phosphate dehydrogenase, liver less 74.87(n)    BG513269.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SFTPC (see all 129)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0267544
    Pulmonary surfactant metabolism dysfunction 2 (SMDP2)4--see VAR_0267542 A D mis40--------
    VAR_0368554
    Pulmonary surfactant metabolism dysfunction 2 (SMDP2)4--see VAR_0368552 E K mis40--------
    rs349573181,2,4
    Pulmonary surfactant metabolism dysfunction 2 (SMDP2)4--see VAR_0267552 mis40--------
    VAR_0267564
    Pulmonary surfactant metabolism dysfunction 2 (SMDP2)4--see VAR_0267562 L Q mis40--------
    VAR_0267534
    Pulmonary surfactant metabolism dysfunction 2 (SMDP2)4--see VAR_0267532 I T mis40--------
    rs1219178361,2
    Cpathogenic120562544(+) ACACGA/GAGATG 6 K E mis10--------
    rs81923361,2
    C,F,H--20559506(+) CCTCTC/TCCAGC 3 -- us2k1 trp37Minor allele frequency- T:0.03NS NA 774
    rs81923141,2
    C,F,H--20559607(+) ACCCCG/AAGATG 3 -- us2k14Minor allele frequency- A:0.00NS NA 322
    rs81923151,2
    C,F--20559714(+) GGGGGC/TGGGAG 3 -- us2k12Minor allele frequency- T:0.02NS 94
    rs81923161,2
    C,F--20559802(+) AGGCCG/CAGCTG 3 -- us2k13Minor allele frequency- C:0.05NS WA 212

    HapMap Linkage Disequilibrium report for SFTPC (22014426 - 22021992 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SFTPC (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527293CNV Loss19592680
    dgv7758n71CNV Loss21882294
    nsv528590CNV Loss19592680
    dgv881n27CNV Loss19166990
    nsv465613CNV Loss19166990
    nsv470204CNV Loss18288195
    nsv890661CNV Loss21882294
    nsv890654CNV Loss21882294
    dgv7761n71CNV Loss21882294
    dgv7760n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SFTPC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SFTPC
    DNA2.0 Custom Variant and Variant Library Synthesis for SFTPC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 178620   
    OMIM disorders: 610913  
    UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686
  • 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. 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'. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry

  • Selected diseases for SFTPC (see all 21):    
    About MalaCards
    surfactant dysfunction    surfactant metabolism dysfunction, pulmonary, 2    pulmonary surfactant metabolism dysfunction    sftpc-related familial pulmonary fibrosis
    infant acute respiratory distress syndrome    desquamative interstitial pneumonia    sftpc-related pulmonary surfactant metabolism dysfunction    interstitial lung disease
    protein c deficiency    usual interstitial pneumonia    nonspecific interstitial pneumonia    obstructive lung disease
    terminal osseous dysplasia    pulmonary alveolar proteinosis    surfactant metabolism dysfunction, pulmonary, 1    pneumonia
    idiopathic pulmonary fibrosis    pulmonary fibrosis    adult respiratory distress syndrome    pulmonary fibrosis, familial

    1 disease from the University of Copenhagen DISEASES database for SFTPC:
    Lung disease

    Find genes that share disorders with SFTPC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SFTPC gene (see all 38)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lung diseases interstitial 82.5 46 15293602 (2), 20461694 (2), 15039969 (2), 19220077 (2) (see all 30)
    respiratory distress syndrome 77.7 13 10191270 (1), 10825441 (1), 16631109 (1), 18197709 (1) (see all 12)
    pulmonary alveolar proteinosis 74.3 9 11453699 (1), 19136726 (1), 16042774 (1), 16443648 (1) (see all 6)
    lung diseases 68.3 50 19443464 (3), 14977415 (3), 16782390 (2), 17121584 (2) (see all 24)
    pulmonary fibrosis 58.8 19 19747194 (4), 11991887 (2), 15516475 (2), 18037811 (1) (see all 9)
    respiratory failure 58.6 4 9506635 (1), 19824815 (1), 17142157 (1)
    pneumonia interstitial 56.8 21 17005585 (5), 16423270 (2), 11991887 (2), 15516475 (1) (see all 8)
    bronchoalveolar lavage fluid 55 6 18039279 (1), 11850338 (1), 16042774 (1), 19747194 (1) (see all 5)
    fibrosis idiopathic pulmonary 47.5 7 16738199 (2), 11991887 (1), 15516475 (1), 17005585 (1) (see all 5)
    adenocarcinoma lung 44.5 1 9212243 (1)

    Genetic Association Database (GAD): SFTPC
    Human Genome Epidemiology (HuGE) Navigator: SFTPC (18 documents)

    Export disorders for SFTPC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SFTPC gene, integrated from 10 sources (see all 415):
    (articles sorted by number of sources associating them with SFTPC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. (PubMed id 15039969)1, 2, 4, 9 Tredano M.... Bahuau M. (Am. J. Med. Genet. A 2004)
    2. Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease. (PubMed id 14735158)1, 2, 4, 9 Lahti M.... Hallman M. (Eur. J. Hum. Genet. 2004)
    3. Genetic association of SP-C with duration of preterm premature rupture of fetal membranes and expression in gestational tissues. (PubMed id 19735006)1, 4, 9 Salminen A....Hallman M. (Ann. Med. 2009)
    4. Human surfactant protein-C: genetic homogeneity and expression in RDS; comparison with other species. (PubMed id 8181452)1, 2, 9 Hatzis D.... Floros J. (Exp. Lung Res. 1994)
    5. The pulmonary surfactant protein C (SP-C) precursor is a type II transmembrane protein. (PubMed id 1859376)1, 3, 9 Keller A....SchAofer K.P. (Biochem. J. 1991)
    6. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. (PubMed id 15516475)1, 4, 9 Lawson W.E....du Bois R.M. (Thorax 2004)
    7. New surfactant protein C gene mutations associated with diffuse lung disease. (PubMed id 19443464)1, 4, 9 Guillot L....Feldmann D. (J. Med. Genet. 2009)
    8. Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias. (PubMed id 17005585)1, 4, 9 Markart P....Witt H. (Eur. Respir. J. 2007)
    9. Haplotypes of surfactant protein C are associated with common paediatric lung diseases. (PubMed id 17121584)1, 4, 9 Puthothu B....Heinzmann A. (Pediatr Allergy Immunol 2006)
    10. The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment. (PubMed id 16709565)1, 3, 9 Johansson H....Johansson J. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6440 HGNC: 10802 AceView: SFTPC Ensembl:ENSG00000168484 euGenes: HUgn6440
    ECgene: SFTPC H-InvDB: SFTPC

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SFTPC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SFTPC[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/sftpc/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SFTPC gene:
    Search GeneIP for patents involving SFTPC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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