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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SFTPD Gene

protein-coding   GIFtS: 64
GCID: GC10M081687

Surfactant Protein D

(Previous names: surfactant, pulmonary-associated protein D)
(Previous symbol: SFTP4)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Surfactant Protein D1 2     Collectin 72
SFTP41 2 3 5     collectin-72
Surfactant, Pulmonary-Associated Protein D1 2     Pulmonary Surfactant Apoprotein2
Lung Surfactant Protein D2 3     Pulmonary Surfactant-Associated Protein D2
COLEC72 3     Surfactant-Associated Protein, Pulmonary 42
PSP-D2 3     Collectin-73
SP-D2 3     PSPD3

External Ids:    HGNC: 108031   Entrez Gene: 64412   Ensembl: ENSG000001336617   OMIM: 1786355   UniProtKB: P352473   

Export aliases for SFTPD gene to outside databases

Previous GC identifers: GC10M080654 GC10M080919 GC10M081828 GC10M081362 GC10M081019 GC10M075540


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SFTPD Gene: 
SFTPD (surfactant protein D) is a protein-coding gene. Diseases associated with SFTPD include aspergillosis, and idiopathic pulmonary alveolar proteinosis, and among its related super-pathways are Immune response Bacterial infections in normal airways and Cell junction organization. GO annotations related to this gene include carbohydrate binding and bacterial cell surface binding. An important paralog of this gene is SFTPA1.

UniProtKB/Swiss-Prot: SFTPD_HUMAN, P35247
Function: Contributes to the lung's defense against inhaled microorganisms. May participate in the extracellular
reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other
alpha-glucosyl moieties

Gene Wiki entry for SFTPD (Surfactant protein D) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFTPD gene promoter:
         c-Fos   AP-1   JunB   FosB   Fra-1   Arnt   JunD   IRF-7A   c-Jun   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFTPD promoter sequence
   Search SABiosciences Chromatin IP Primers for SFTPD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFTPD


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

Entrez Gene cytogenetic band: 10q22.2-q23.1   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q22.2-q23.1

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M081687:  view genomic region     (about GC identifiers)

Start:
81,697,496 bp from pter      End:
81,742,370 bp from pter
Size:
44,875 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SFTPD_HUMAN, P35247 (See protein sequence)
Recommended Name: Pulmonary surfactant-associated protein D precursor  
Size: 375 amino acids; 37728 Da
Subunit: Oligomeric complex of 4 set of homotrimers
Subcellular location: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface
film
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)
6/23 PDB 3D structures from and Proteopedia for SFTPD (see all 23):
1B08 (3D)        1M7L (3D)        1PW9 (3D)        1PWB (3D)        2GGU (3D)        2GGX (3D)    
Secondary accessions: Q5T0M3 Q6FH08 Q86YK9 Q8TCD8 Q9UCJ2 Q9UCJ3

Explore the universe of human proteins at neXtProt for SFTPD: NX_P35247

Explore proteomics data for SFTPD at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • UniProtKB: Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the
    requirement for 4-hydroxylation in vertebrates (By similarity)
  • View neXtProt modification sites for NX_P35247

  • SFTPD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SFTPD Protein Expression
    REFSEQ proteins: NP_003010.4  
    ENSEMBL proteins: 
     ENSP00000361366   ENSP00000394325  
    Reactome Protein details: P35247
    Human Recombinant Protein Products for SFTPD: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for SFTPD (SP-D)
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    Sino Biological Recombinant Protein for SFTPD
    Sino Biological Cell Lysate for SFTPD 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS9751757
    GO:0005581collagen IEA--
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome TAS10485905

    SFTPD for ontologies           About GeneDecksing



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    Abcam antibodies for SFTPD
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    ThermoFisher Antibodies for SFTPD
    LSBio Antibodies in human, mouse, rat for SFTPD 

    Assay Products for SFTPD: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for SFTPD (SP-D)         (see all)
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLEC: Collectins

    5/6 InterPro protein domains (see all 6):
     IPR015097 Surfac_D-trimer
     IPR016187 C-type_lectin_fold
     IPR018378 C-type_lectin_CS
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin

    Graphical View of Domain Structure for InterPro Entry P35247

    ProtoNet protein and cluster: P35247

    2 Blocks protein domains:
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: SFTPD_HUMAN, P35247
    Similarity: Belongs to the SFTPD family
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 collagen-like domain


    SFTPD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SFTPD_HUMAN, P35247
    Function: Contributes to the lung's defense against inhaled microorganisms. May participate in the extracellular
    reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other
    alpha-glucosyl moieties

         Genatlas biochemistry entry for SFTPD:
    surfactant-associated glycoprotein D member of the collectin family,pulmonary,playing an important role in innate
    immunity by binding to specific carbohydrate structures found at the surface of pathogenic microorganisms

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12884308
    GO:0030246carbohydrate binding TAS10485905
         
    SFTPD for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sftpd):
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     respiratory system 

    SFTPD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SFTPD: Sftpdtm2Haw Sftpdtm1Haw Sftpdtm1Jhf

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SFTPD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SFTPD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SFTPD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SFTPD 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPD


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SFTPD About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Bacterial infections in normal airways
    Bacterial infections in CF airways0.78
    2Cell-cell junction organization
    Cell-Cell communication0.64
    3Selected targets of C/EBPbeta
    Selected targets of C/EBPbeta
    4Selected targets of C/EBPalpha
    Selected targets of C/EBPalpha
    5Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SFTPD
        Selected targets of C/EBPbeta
    Selected targets of C/EBPalpha


    1 GeneGo (Thomson Reuters) Pathway for SFTPD
        Bacterial infections in CF airways

    2 BioSystems Pathways for SFTPD
        Regulation of retinoblastoma protein
    FOXA1 transcription factor network


    2        Reactome Pathways for SFTPD
        Signal regulatory protein (SIRP) family interactions
    Cell-Cell communication


    1         Kegg Pathway  (Kegg details for SFTPD):
        Phagosome


    SFTPD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SFTPD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/11 Interacting proteins for SFTPD (P352473 ENSP000003613664) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCNP075853, ENSP000000527544I2D: score=2 STRING: ENSP00000052754
    DMBT1Q9UGM33, ENSP000003579054I2D: score=2 STRING: ENSP00000357905
    SFTPA1Q8IWL23, ENSP000003613824I2D: score=1 STRING: ENSP00000361382
    MFAP4P550833, ENSP000002996104I2D: score=1 STRING: ENSP00000299610
    LY96Q9Y6Y93I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001817regulation of cytokine production NAS9751757
    GO:0006898receptor-mediated endocytosis TAS10485905
    GO:0007585respiratory gaseous exchange IEA--
    GO:0042130negative regulation of T cell proliferation TAS10485905
    GO:0043129surfactant homeostasis IMP9751757

    SFTPD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SFTPD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SFTPD

    1 DrugBank Compound for SFTPD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Beta-D-Glucose-- 50-99-7target--17139284 17016423

    10/43 Novoseek inferred chemical compound relationships for SFTPD gene (see all 43)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannan 73.4 11 10224141 (1), 11045608 (1), 12816736 (1), 9153228 (1) (see all 9)
    sivelestat 68.7 9 15500109 (2), 18992355 (1), 17974096 (1), 17644940 (1)
    mannose 67 31 17915943 (2), 17567900 (2), 15187139 (2), 19249874 (2) (see all 18)
    sivelestat sodium hydrate 66.7 1 17313021 (1)
    maltose 66.2 23 17915943 (3), 9153228 (2), 8918587 (1), 9700129 (1) (see all 16)
    phospholipid 40.4 10 10666121 (3), 9870921 (1), 10456901 (1), 9813383 (1) (see all 6)
    allergens 40 36 9367408 (5), 17202930 (4), 12706535 (4), 15905537 (3) (see all 11)
    hydroxylysine 38.9 1 1339284 (1)
    phosphatidylcholine 34.5 2 16889547 (1), 10666121 (1)
    phosphatidylinositol 33.5 31 1400434 (6), 1457414 (5), 17417879 (3), 16834340 (2) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about SFTPD

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SFTPD gene: 
    NM_003019.4  

    Unigene Cluster for SFTPD:

    Surfactant protein D
    Hs.253495  [show with all ESTs]
    Unigene Representative Sequence: BC022318
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372292(uc001kbh.3) ENST00000444384
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    BC022318.1 CR541948.1 

    1 DOTS entry:

    DT.91644675 

    24/43 AceView cDNA sequences (see all 43):

    BX282004 BM985387 AI732255 AI924488 BM972342 X65018 BI822450 NM_003019 
    BI821373 BQ029770 BI770406 BF446634 BM985241 BE465060 BI823937 BI820265 
    BI820618 BI819407 CR541948 BM970199 BI489632 BC022318 BG482911 BQ030140 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SFTPD expression in normal human tissues (normalized intensities)      SFTPD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCCAATAT
    SFTPD Expression
    About this image


    SFTPD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Alveolar Epithelial Type 2 Cells Alveoli
             Type II pneumocytes (airway epithelial cells) ( Derivation of lung epithelial cells...
             lung ; pneumocytes   
     
     Colon (Gastrointestinal Tract)
             colon ; endothelial cells   
     
     Endothelium (Cardiovascular System)
             colon ; endothelial cells   
     
     Blood (Respiratory System)
             lung ; macrophages   

    See SFTPD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFTPD

    SOURCE GeneReport for Unigene cluster: Hs.253495
        SABiosciences Expression via Pathway-Focused PCR Arrays including SFTPD (see all 6): 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Th1/Th2 Response in human mouse rat
              Oxidative Stress in human mouse rat
              Antifungal Response in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPD

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SFTPD gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sftpd1 , 5 surfactant associated protein D1, 5 79.59(n)1
    74.87(a)1
      14 (22.36 cM)5
    203901  NM_009160.21  NP_033186.11 
     411722125 
    lizard
    (Anolis carolinensis)
    Reptilia SFTPD6
    surfactant protein D
    49(a)
    1 ↔ 1
    GL343233.1(1461285-1495994)
    zebrafish
    (Danio rerio)
    Actinopterygii hbl46
    hbl26
    (see all 5)
    hexose-binding lectin 2
    (see all 5)
    34(a)
    33(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    2(37618223-37621667)
    2(37631017-37632321)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFTPD gene
    SFTPA12  COLEC112  COLEC102  MBL22  SFTPA22  
    18/24 SIMAP similar genes for SFTPD using alignment to 3 protein entries:     SFTPD_HUMAN (see all proteins) (see all similar genes):
    MBL2    COL16A1    COL17A1    MARCO    COL21A1    COL3A1
    COL5A3    COL11A2    SFTPA2    COL10A1    COL22A1    COL5A1
    COL5A2    COL1A1    COL11A1    COL7A1    DKFZp686H17246    SFTPA1

    SFTPD for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/350 SNPs in SFTPD are shown (see all 350)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441550921,2
    --81697083(+) TAGCCA/GGGCGT 1 -- ds50010--------
    rs27585471,2
    C,F--81697124(-) ctctgC/Tctccc 1 -- ds500114Minor allele frequency- T:0.31NS NA WA CSA EA 469
    rs105832191,2
    C,F--81697164(+) ACTCC-/GATATTGG 2 -- ds5001 cds13Minor allele frequency- GAT:0.26NS NA 96
    rs1408095671,2
    C--81697164(+) ACTCC-/GATATTGG 1 -- ds50010--------
    rs178866021,2
    C,F--81697177(-) TCACTC/GTGTCA 1 -- ds50014Minor allele frequency- G:0.08NS WA NA 308
    rs65838881,2
    C,F,A--81697197(+) tcaaaA/Caaaaa 1 -- ds50015Minor allele frequency- C:0.26NS WA NA 98
    rs681788391,2
    C--81697197(-) TTTTT-/G/TTTT
            
    TTTGA
    1 -- ds50011NA 2
    rs28190991,2
    C,F,A--81697273(-) cctgcG/Agatct 1 -- ds500118Minor allele frequency- A:0.30NA NS WA CSA EA 612
    rs1837465271,2
    --81697365(+) CTTTTA/TTCCCT 1 -- ds50010--------
    rs178786641,2
    C,F--81697468(-) CAAAAG/CTTACA 1 -- ds50014Minor allele frequency- C:0.05NS WA 212

    HapMap Linkage Disequilibrium report for SFTPD (81697496 - 81742370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SFTPD:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738751CNV Deletion23290073
    nsv831922CNV Loss17160897
    nsv895802CNV Gain21882294
    nsv467391CNV Gain19166990
    nsv895801CNV Gain21882294


    Human Gene Mutation Database (HGMD): SFTPD
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SFTPD
    DNA2.0 Custom Variant and Variant Library Synthesis for SFTPD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 178635    OMIM disorders: --

    20/80 diseases for SFTPD (see all 80):    About MalaCards
    aspergillosis    idiopathic pulmonary alveolar proteinosis    wilson-mikity syndrome    mushroom workers' lung
    extrinsic allergic alveolitis    pneumonia    interstitial lung disease    systemic scleroderma
    pulmonary emphysema    collagen disease    idiopathic pulmonary fibrosis    eosinophilic pneumonia
    idiopathic interstitial pneumonia    invasive aspergillosis    pneumocystosis    pulmonary alveolar proteinosis
    polymyositis    klebsiella    allergic bronchopulmonary aspergillosis    pulmonary eosinophilia

    6 diseases from the University of Copenhagen DISEASES database for SFTPD:
    Pneumonia     Pulmonary alveolar proteinosis     Interstitial lung disease     Chronic obstructive pulmonary disease
    Respiratory failure     Influenza

    SFTPD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/70 Novoseek inferred disease relationships for SFTPD gene (see all 70)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pulmonary alveolar proteinosis 80.9 21 8424457 (2), 19046553 (2), 8046250 (2), 11355171 (1) (see all 12)
    bronchoalveolar lavage fluid 74.2 40 19046553 (2), 8918587 (1), 10497393 (1), 15274124 (1) (see all 27)
    lung diseases interstitial 73.4 25 11818324 (2), 12421999 (2), 19286849 (2), 14522914 (1) (see all 14)
    respiratory distress syndrome 70.8 10 14522914 (1), 16188791 (1), 19348329 (1), 16472150 (1) (see all 9)
    pneumonia interstitial 70.6 36 12692985 (3), 10846395 (2), 17874049 (2), 11475580 (2) (see all 17)
    fibrosis idiopathic pulmonary 68.8 14 11896896 (1), 19255294 (1), 11321887 (1), 16798048 (1) (see all 10)
    lung diseases 68.5 61 10897675 (4), 16684127 (4), 16517507 (3), 16472150 (2) (see all 32)
    pneumonitis hypersensitivity 63 5 11083713 (1), 9844346 (1), 16319337 (1), 17874049 (1)
    acute respiratory distress 62.7 7 14522914 (1), 16472150 (1), 15244040 (1), 10452960 (1) (see all 6)
    acute eosinophilic pneumonia 61.9 2 15357266 (1), 16157978 (1)

    Genetic Association Database (GAD): SFTPD
    Human Genome Epidemiology (HuGE) Navigator: SFTPD (39 documents)

    Export disorders for SFTPD 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)
    About This Section

    PubMed articles for SFTPD gene, integrated from 9 sources (see all 504):
    (articles sorted by number of sources associating them with SFTPD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification, characterization and cDNA cloning of human lung surfactant protein D. (PubMed id 1339284)1, 2, 3, 9 Lu J.... Reid K.B.M. (1992)
    2. Human surfactant protein D: SP-D contains a C-type lectin carbohydrate recognition domain. (PubMed id 1898081)1, 2, 3, 9 Rust K.... Crouch E. (1991)
    3. Polymorphisms in the human surfactant protein-D (SFTPD) gene: strong evidence that serum levels of surfactant protein-D (SP-D) are genetically influenced. (PubMed id 15700120)1, 4, 9 Heidinger K....Bein G. (2005)
    4. A common polymorphism in the SFTPD gene influences assembly, function, and concentration of surfactant protein D. (PubMed id 15661913)1, 4, 9 Leth-Larsen R....Holmskov U. (2005)
    5. Increased plasma concentration of surfactant protein D in chronic periodontitis independent of SFTPD genotype: potential role as a biomarker. (PubMed id 18498293)1, 4, 9 Glas J....Folwaczny M. (2008)
    6. Accumulation of surfactant protein D in human pulmonary alveolar proteinosis. (PubMed id 8424457)1, 2, 9 Crouch E.... Chang D. (1993)
    7. Genomic organization of human surfactant protein D (SP-D). SP-D is encoded on chromosome 10q22.2-23.1. (PubMed id 8428971)1, 2, 9 Crouch E.... Grosso L. (1993)
    8. Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant. (PubMed id 18785967)1, 4, 9 Hilgendorff A....Bein G. (2009)
    9. Surfactant protein A and D gene polymorphisms and protein expression in victims of sudden infant death. (PubMed id 18983439)1, 4, 9 Stray-Pedersen A....Rognum T.O. (2009)
    10. Transmission of Surfactant Protein Variants and Haplotypes in Children Hospitalized with Respiratory Syncytial Virus. (PubMed id 19287351)1, 4, 9 Thomas N.J....Floros J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Free Text  

      Query String
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      (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)
    About This Section
    Entrez Gene: 6441 HGNC: 10803 AceView: SFTPD Ensembl:ENSG00000133661 euGenes: HUgn6441
    ECgene: SFTPD Kegg: 6441 H-InvDB: SFTPD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SFTPD Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/sftpd/
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_228

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

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



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