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SFTPD Gene

protein-coding   GIFtS: 65
GCID: GC10M081687

Surfactant Protein D

(Previous names: surfactant, pulmonary-associated protein D)
(Previous symbol: SFTP4)
  See SFTPD-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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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SFTPD Gene:
SFTPD (surfactant protein D) is a protein-coding gene. Diseases associated with SFTPD include idiopathic pulmonary alveolar proteinosis, and wilson-mikity syndrome. GO annotations related to this gene include carbohydrate 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, organic antigens and toxins. Interacts
with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte
action in immune response. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   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 Chromatin IP Primers for SFTPD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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)
Selected PDB 3D structures from and Proteopedia for SFTPD (see all 25):
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: 

  • The N-terminus is blocked1
  • 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)1
  • S-nitrosylation at Cys-35 and Cys-40 alters the quaternary structure which results in a pro-inflammatory
    chemoattractive signaling activity with macrophages (By similarity)1
  • Glycosylation2 at Asn90

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

    REFSEQ proteins: NP_003010.4  
    ENSEMBL proteins: 
     ENSP00000361366   ENSP00000394325  
    Reactome Protein details: P35247

    SFTPD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals SFTPD Protein
    Novus Biologicals SFTPD Lysate
    Sino Biological Recombinant Protein for SFTPD
    Sino Biological Cell Lysate for SFTPD
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SFTPD 

     
    antibodies-online proteins for SFTPD (12 products) 

     
    antibodies-online peptides for SFTPD

    SFTPD Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SFTPD
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    Novus Biologicals SFTPD Antibodies
    Abcam antibodies for SFTPD
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SFTPD
    antibodies-online antibodies for SFTPD (66 products) 

    SFTPD Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SFTPD
    R&D Systems ELISAs for SFTPD (SP-D)         (see all)
    GenScript Custom Assay Services for SFTPD
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SFTPD 
    antibodies-online kits for SFTPD (2 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:
    COLEC: Collectins

    Selected 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


    Find genes that share domains with SFTPD           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: SFTPD_HUMAN, P35247
    Function: Contributes to the lung's defense against inhaled microorganisms, organic antigens and toxins. Interacts
    with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte
    action in immune response. 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12884308
    GO:0030246carbohydrate binding TAS10485905
         
    Find genes that share ontologies with SFTPD           About GenesLikeMe


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

    Find genes that share phenotypes with SFTPD           About GenesLikeMe

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

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

    miRNA
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    miRTarBase miRNAs that target SFTPD:
    hsa-mir-335-5p (MIRT019062)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SFTPD

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SFTPD (NM_003019)
    Sino Biological Human cDNA Clone for SFTPD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFTPD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFTPD

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPD


    (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
    SFTPD_HUMAN, P35247: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface
    film
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome5
    vacuole5
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (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

    Find genes that share ontologies with SFTPD           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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    SuperPaths for SFTPD About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response Bacterial infections in normal airways
    Bacterial infections in CF airways0.78
    2Selected targets of C EBPbeta
    Selected targets of C EBPbeta
    3Selected targets of C EBPalpha
    Selected targets of C EBPalpha
    4Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein
    5Phagosome
    Phagosome


    Find genes that share SuperPaths with SFTPD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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


    1 Reactome Pathway for SFTPD
        Signal regulatory protein (SIRP) family interactions


    1 Kegg Pathway  (Kegg details for SFTPD):
        Phagosome

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for SFTPD

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

    Selected 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): Selected biological process terms (see all 12):    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:0042742defense response to bacterium TAS9751757

    Find genes that share ontologies with SFTPD           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 SFTPD

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

    Selected 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)



    Find genes that share compounds with SFTPD           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 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
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SFTPD
      QuantiFast Probe-based Assays in human, mouse, rat SFTPD

    Additional mRNA sequence: 

    BC022318.1 CR541948.1 

    1 DOTS entry:

    DT.91644675 

    Selected AceView cDNA sequences (see all 43):

    BM972342 BM985387 AI732255 BX282004 AI924488 BI820618 BM994163 BC022318 
    BI821373 X65018 CR541948 NM_003019 BI770406 BI823937 BI489632 BM970199 
    BE465060 BI822450 BM993484 BQ029770 BI820265 BQ030140 AI820677 BI819407 

    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™, 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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    SFTPD expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Alveolar Epithelial Type 2 Cells Alveoli
             Type II pneumocytes (airway epithelial cells)
             lung ; pneumocytes   
     
     Epithelial Cells
             Alveolar Epithelial Type 2 Cells Alveoli
    SFTPD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SFTPD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.253495

    UniProtKB/Swiss-Prot: SFTPD_HUMAN, P35247
    Tissue specificity: Expressed in lung, brain, pancreas and adipose tissue (mainly mature adipocytes)

        Pathway & Disease-focused RT2 Profiler 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

    Primer
    Products:
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    OriGene qSTAR qPCR primer pairs in human, mouse for SFTPD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SFTPD
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    QuantiFast Probe-based Assays in human, mouse, rat SFTPD
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SFTPD gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sftpd1 , 5 surfactant associated protein D1, 5 80.17(n)1
    75.21(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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1001353661 uncharacterized LOC100135366 51.96(n)
    47.89(a)
      100135366  NM_001114038.1  NP_001107510.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hbl26
    hbl46
    (see all 5)
    hexose-binding lectin 4
    (see all 5)
    38(a)
    37(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    2(37631017-37632321) ENSDARG00000094681
    2(37618223-37621667) ENSDARG00000054202


    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)
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    Paralogs for SFTPD gene
    SFTPA12  COLEC112  COLEC102  MBL22  SFTPA22  
    Selected 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
    COL11A2    COL5A3    SFTPA2    COL10A1    COL22A1    COL5A1
    COL5A2    COL1A1    COL11A1    COL7A1    DKFZp686H17246    SFTPA1

    Find genes that share paralogs with SFTPD           About GenesLikeMe



    (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 SFTPD (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 178635    OMIM disorders: --

    Selected diseases for SFTPD (see all 28):    
    About MalaCards
    idiopathic pulmonary alveolar proteinosis    wilson-mikity syndrome    pneumonia    pulmonary emphysema
    aspergillosis    extrinsic allergic alveolitis    invasive aspergillosis    collagen disease
    pulmonary alveolar proteinosis    systemic scleroderma    interstitial lung disease    eosinophilic pneumonia
    avian influenza    pulmonary eosinophilia    influenza    pulmonary sarcoidosis
    polymyositis    klebsiella    idiopathic interstitial pneumonia    allergic bronchopulmonary aspergillosis

    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

    Find genes that share disorders with SFTPD           About GenesLikeMe

    Selected 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)
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    PubMed articles for SFTPD gene, integrated from 10 sources (see all 515):
    (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. (Biochem. J. 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. (Arch. Biochem. Biophys. 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. (Immunogenetics 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. (J. Immunol. 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. (Tissue Antigens 2008)
    6. Accumulation of surfactant protein D in human pulmonary alveolar proteinosis. (PubMed id 8424457)1, 2, 9 Crouch E.... Chang D. (Am. J. Pathol. 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. (J. Biol. Chem. 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. (Acta Paediatr. 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. (Acta Paediatr. 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. (Pediatr. Res. 2009)

    (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: 6441 HGNC: 10803 AceView: SFTPD Ensembl:ENSG00000133661 euGenes: HUgn6441
    ECgene: SFTPD Kegg: 6441 H-InvDB: SFTPD

    (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 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.)
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    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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