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FLASH GENE
Symbol SFTPC contributors: mct - updated : 28-09-2013
HGNC name surfactant, pulmonary-associated protein C
HGNC id 10802
Corresponding disease
FILD familial interstitial lung disease
SMDP2 surfactant metabolism dysfunction, pulmonary 2
Location 8p21.3      Physical location : 22.019.183 - 22.021.989
Synonym name
  • human pulmonary proteolipid SPL(pVal), 20kb
  • SP5
  • BRICHOS domain containing 6
  • pulmonary surfactant apoprotein-2 SP-C
  • Synonym symbol(s) SFTP2, SP-C, SPLV, BRICD6, PSP-C, SMDP2,
    DNA
    TYPE functioning gene
    STRUCTURE 7.14 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    GFRA2 8p22-p21 GDNF family receptor alpha 2 DOK2 8p21.2 docking protein 2, 56kDa XPO7 8p21 exportin 7 NPM2 8p21.3 nucleophosmin/nucleoplasmin, 2 FGF17 8p21 fibroblast growth factor 17 EPB49 8p21.1 erythrocyte membrane protein band 4.9 (dematin) RAI16 8p21.2 retinoic acid induced 16 FLJ22494 8p21.3 hypothetical protein FLJ22494 HR 8p22-p21 hairless homolog (mouse) FLJ22246 8p21.3 hypothetical protein FLJ22246 LGI3 8p21.2 leucine-rich repeat LGI family, member 3 SFTPC 8p21.2 surfactant, pulmonary-associated protein C BMP1 8p21.2 bone morphogenetic protein 1 PHYHIP 8p21.2 phytanoyl-CoA hydroxylase interacting protein POLR3D 8q21 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa PIWIL2 8p21.2 piwi-like 2 (Drosophila) SLC39A14 8p21.2 solute carrier family 39 (zinc transporter), member 14 PPP3CC 8p21.2 protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) LOC389639 8 LOC389639 SCAM-1 8p21.2 vinexin beta (SH3-containing adaptor molecule-1) PDLIM2 8p21.2 PDZ and LIM domain 2 (mystique) DBC-1 8p22 p30 DBC protein BIN3 8p21.2 bridging integrator 3 FLJ14107 8p21.2 hypothetical protein FLJ14107 EGR3 8p23-p21 early growth response 3 MGC22776 8p21.2 hypothetical protein MGC22776 RHOBTB2 8p21.2 Rho-related BTB domain containing 2 TNFRSF10B 8p21 tumor necrosis factor receptor superfamily, member 10b LOC389640 8 LOC389640 TNFRSF10C 8p21 tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
    RNA
    TRANSCRIPTS type messenger
    text several alternative (Glasser)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 989 - 197 Glasser -
    6 splicing 991 - 197 same expression Glasser
    5 - 1187 - 191 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratorylung    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryalveolar cell type II
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • N-terminus, situated in the cytosol
  • BRICHOS domain, of approximately 100 amino acids , suggested to act as a chaperone that targets the SFTPC region of proSFTPC and prevents its aggregation while assisting its safe membrane insertion as a TM helix
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,nucleus
    text integral membrane protein anchored in the membrane by the hydrophobic core of mature SFTPC
    basic FUNCTION
  • enhancer the surface tension-lowering properties of surfactant lipides
  • SFTPB, and SFTPC proteins promote the formation of proteolipid channels in which lipid molecules are functionally involved
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component component of surfactant
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DNAJB9, DNAJC10 promote turnover of misfolded SFTPC and this activity is dependent on their ability to stimulate HSPA5 ATPase activity
  • ER lumenal domain of MKS3 interacted with a complex that included mutant SFTPC and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic VCP
  • role of JNK signaling in mediating SFTPC BRICHOS-induced cytokine release, and provide a link between SFTPC BRICHOS mutants and proinflammatory cytokine signaling
  • functional cooperation between surfactant proteins SFTPB and SFTPC may be required to sustain a proper compression-expansion dynamics in the presence of physiological proportions of cholesterol
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FILD , SMDP2
    Susceptibility to perinatal respiratory disease and bronchopulmonary dysplasia in premature infant
    Variant & Polymorphism allele 138 ASN increasing the risk of bronchopulmonary dysplasia in premature infant
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS