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Aliases for SFTPD Gene

Aliases for SFTPD Gene

  • Surfactant Protein D 2 3 5
  • Lung Surfactant Protein D 3 4
  • Collectin-7 3 4
  • COLEC7 3 4
  • SFTP4 3 4
  • PSP-D 3 4
  • SP-D 3 4
  • Surfactant, Pulmonary-Associated Protein D 2
  • Surfactant-Associated Protein, Pulmonary 4 3
  • Pulmonary Surfactant-Associated Protein D 3
  • Pulmonary Surfactant Apoprotein 3
  • PSPD 4

External Ids for SFTPD Gene

Previous HGNC Symbols for SFTPD Gene

  • SFTP4

Previous GeneCards Identifiers for SFTPD Gene

  • GC10M080654
  • GC10M080919
  • GC10M081828
  • GC10M081362
  • GC10M081019
  • GC10M081687
  • GC10M075540

Summaries for SFTPD Gene

Entrez Gene Summary for SFTPD Gene

  • The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]

GeneCards Summary for SFTPD Gene

SFTPD (Surfactant Protein D) is a Protein Coding gene. Diseases associated with SFTPD include Extrinsic Allergic Alveolitis and Wilson-Mikity Syndrome. Among its related pathways are HIV Life Cycle and Surfactant metabolism. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is MBL2.

UniProtKB/Swiss-Prot for SFTPD Gene

  • Contributes to the lungs 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 Gene

Additional gene information for SFTPD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFTPD Gene

Genomics for SFTPD Gene

Regulatory Elements for SFTPD Gene

Enhancers for SFTPD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H079936 1.3 FANTOM5 Ensembl ENCODE 29.9 +44.3 44312 3 MAX CTBP1 EGR1 POLR2A EED ATF7 ETV6 IKZF2 SMARCE1 NRF1 SFTPD MBL1P ANXA11 SFTPA2 CTSLP6 LINC00857 SFTPD-AS1 NUTM2B
GH10H079981 0.8 ENCODE 34.9 +0.6 631 1 GTF2F1 MXI1 ZNF76 SIN3A ZBTB7B YY1 HIC1 E2F1 ZFHX2 CTBP1 SFTPD ENSG00000272489 ZMIZ1-AS1 PLAC9 MBL1P GC10P081203
GH10H079904 0.9 ENCODE 23.1 +77.6 77625 1 ZNF76 ZBTB40 ZNF2 YY1 GLIS2 SCRT2 ZNF143 KLF7 ZNF362 ZBTB11 SFTPD MBL1P CTSLP6 SFTPD-AS1 NUTM2B ENSG00000283913 BMS1P21
GH10H080109 1.2 Ensembl ENCODE dbSUPER 8.7 -128.0 -127964 1 SOX13 TEAD3 GATA3 NR2F6 MIXL1 GATAD2A SOX5 NFIA TEAD1 PPARG TMEM254-AS1 TMEM254 SFTPD PIR41694 RPL22P18
GH10H080103 1.2 FANTOM5 Ensembl ENCODE dbSUPER 8.5 -122.5 -122468 3 RFX1 RFX3 MAFK TMEM254-AS1 TMEM254 SFTPD PIR41694 ENSG00000279399
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SFTPD on UCSC Golden Path with GeneCards custom track

Promoters for SFTPD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000030720 714 1001 GTF2F1 MXI1 ZNF76 SIN3A ZBTB7B YY1 HIC1 E2F1 ZFHX2 CTBP1

Genomic Location for SFTPD Gene

Chromosome:
10
Start:
79,937,740 bp from pter
End:
79,982,614 bp from pter
Size:
44,875 bases
Orientation:
Minus strand

Genomic View for SFTPD Gene

Genes around SFTPD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFTPD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFTPD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTPD Gene

Proteins for SFTPD Gene

  • Protein details for SFTPD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35247-SFTPD_HUMAN
    Recommended name:
    Pulmonary surfactant-associated protein D
    Protein Accession:
    P35247
    Secondary Accessions:
    • Q5T0M3
    • Q6FH08
    • Q86YK9
    • Q8TCD8
    • Q9UCJ2
    • Q9UCJ3

    Protein attributes for SFTPD Gene

    Size:
    375 amino acids
    Molecular mass:
    37728 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for SFTPD Gene

neXtProt entry for SFTPD Gene

Post-translational modifications for SFTPD Gene

  • 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.
  • S-nitrosylation at Cys-35 and Cys-40 alters the quaternary structure which results in a pro-inflammatory chemoattractive signaling activity with macrophages.
  • The N-terminus is blocked.
  • Glycosylation at isoforms=90
  • Modification sites at PhosphoSitePlus

Other Protein References for SFTPD Gene

Antibody Products

Protein Products

Assay Products

No data available for DME Specific Peptides for SFTPD Gene

Domains & Families for SFTPD Gene

Gene Families for SFTPD Gene

Suggested Antigen Peptide Sequences for SFTPD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35247

UniProtKB/Swiss-Prot:

SFTPD_HUMAN :
  • Belongs to the SFTPD family.
Family:
  • Belongs to the SFTPD family.
genes like me logo Genes that share domains with SFTPD: view

Function for SFTPD Gene

Molecular function for SFTPD Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Contributes to the lungs 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.

Phenotypes From GWAS Catalog for SFTPD Gene

Gene Ontology (GO) - Molecular Function for SFTPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12884308
GO:0030246 carbohydrate binding TAS 10485905
genes like me logo Genes that share ontologies with SFTPD: view
genes like me logo Genes that share phenotypes with SFTPD: view

Animal Models for SFTPD Gene

MGI Knock Outs for SFTPD:

Animal Model Products

CRISPR Products

miRNA for SFTPD Gene

miRTarBase miRNAs that target SFTPD

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SFTPD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SFTPD Gene

Localization for SFTPD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFTPD Gene

Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFTPD gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5

Gene Ontology (GO) - Cellular Components for SFTPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 9751757
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SFTPD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTPD Gene

Pathways & Interactions for SFTPD Gene

genes like me logo Genes that share pathways with SFTPD: view

Gene Ontology (GO) - Biological Process for SFTPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production NAS 9751757
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0006898 receptor-mediated endocytosis TAS 10485905
GO:0007585 respiratory gaseous exchange IEA --
genes like me logo Genes that share ontologies with SFTPD: view

No data available for SIGNOR curated interactions for SFTPD Gene

Drugs & Compounds for SFTPD Gene

(25) Drugs for SFTPD Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-D-Glucose Experimental Pharma Target 0

(19) Additional Compounds for SFTPD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SFTPD: view

Transcripts for SFTPD Gene

mRNA/cDNA for SFTPD Gene

Unigene Clusters for SFTPD Gene

Surfactant protein D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SFTPD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SFTPD Gene

No ASD Table

Relevant External Links for SFTPD Gene

GeneLoc Exon Structure for
SFTPD
ECgene alternative splicing isoforms for
SFTPD

Expression for SFTPD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SFTPD Gene

mRNA differential expression in normal tissues according to GTEx for SFTPD Gene

This gene is overexpressed in Lung (x40.8).

Protein differential expression in normal tissues from HIPED for SFTPD Gene

This gene is overexpressed in Lavage (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SFTPD Gene



Protein tissue co-expression partners for SFTPD Gene

NURSA nuclear receptor signaling pathways regulating expression of SFTPD Gene:

SFTPD

SOURCE GeneReport for Unigene cluster for SFTPD Gene:

Hs.253495

mRNA Expression by UniProt/SwissProt for SFTPD Gene:

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

Evidence on tissue expression from TISSUES for SFTPD Gene

  • Lung(4.8)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SFTPD Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
Organs:
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with SFTPD: view

Primer Products

Orthologs for SFTPD Gene

This gene was present in the common ancestor of chordates.

Orthologs for SFTPD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFTPD 33
  • 93.91 (n)
dog
(Canis familiaris)
Mammalia SFTPD 33 34
  • 80.99 (n)
cow
(Bos Taurus)
Mammalia SFTPD 33 34
  • 80.77 (n)
CL46 34
  • 70 (a)
OneToMany
CGN1 34
  • 67 (a)
OneToMany
CL43 34
  • 62 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sftpd 33 16 34
  • 80.17 (n)
rat
(Rattus norvegicus)
Mammalia Sftpd 33
  • 79.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SFTPD 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 63 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SFTPD 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135366 33
  • 51.96 (n)
zebrafish
(Danio rerio)
Actinopterygii hbl2 34
  • 38 (a)
ManyToMany
hbl4 34
  • 37 (a)
ManyToMany
hbl1 34
  • 35 (a)
ManyToMany
hbl3 34
  • 33 (a)
ManyToMany
CR847898.1 34
  • 25 (a)
ManyToMany
Species where no ortholog for SFTPD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SFTPD Gene

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

Paralogs for SFTPD Gene

Paralogs for SFTPD Gene

genes like me logo Genes that share paralogs with SFTPD: view

Variants for SFTPD Gene

Sequence variations from dbSNP and Humsavar for SFTPD Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs864309581 Uncertain significance 79,946,550(-) CACCC(A/T)GGTCA reference, missense
rs1051246 Benign 79,938,062(-) GTAGC(C/T)AAGAA reference, synonymous-codon
rs17878336 Benign 79,942,454(-) GTCCC(C/G)TGGGG intron-variant, reference, missense
rs17885228 Benign 79,942,782(-) CCAAA(A/G)GGAGA reference, synonymous-codon
rs2243639 Benign 79,941,966(+) CCCTG(C/T)GTTTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SFTPD Gene

Variant ID Type Subtype PubMed ID
dgv941n100 CNV gain 25217958
esv3623930 CNV loss 21293372
esv3623931 CNV gain 21293372
esv3623933 CNV loss 21293372
esv3623934 CNV gain 21293372
nsv1141879 OTHER inversion 24896259
nsv467391 CNV gain 19166990
nsv551632 CNV gain 21841781
nsv551635 CNV loss 21841781
nsv551636 CNV loss 21841781
nsv831922 CNV loss 17160897

Variation tolerance for SFTPD Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.90; 67.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SFTPD Gene

Human Gene Mutation Database (HGMD)
SFTPD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFTPD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPD Gene

Disorders for SFTPD Gene

MalaCards: The human disease database

(33) MalaCards diseases for SFTPD Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
extrinsic allergic alveolitis
  • alveolitis
wilson-mikity syndrome
  • pulmonary dysmaturity syndrome
interstitial lung disease
  • ild
chest wall lymphoma
  • chest wall cancer
acute interstitial pneumonia
  • accelerated interstitial pneumonia
- elite association - COSMIC cancer census association via MalaCards
Search SFTPD in MalaCards View complete list of genes associated with diseases

Relevant External Links for SFTPD

Genetic Association Database (GAD)
SFTPD
Human Genome Epidemiology (HuGE) Navigator
SFTPD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFTPD
genes like me logo Genes that share disorders with SFTPD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SFTPD Gene

Publications for SFTPD Gene

  1. Purification, characterization and cDNA cloning of human lung surfactant protein D. (PMID: 1339284) Lu J … Reid KB (The Biochemical journal 1992) 2 3 4 22 60
  2. Human surfactant protein D: SP-D contains a C-type lectin carbohydrate recognition domain. (PMID: 1898081) Rust K … Crouch E (Archives of biochemistry and biophysics 1991) 2 3 4 22 60
  3. Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant. (PMID: 18785967) Hilgendorff A … Bein G (Acta paediatrica (Oslo, Norway : 1992) 2009) 3 22 45 60
  4. Increased plasma concentration of surfactant protein D in chronic periodontitis independent of SFTPD genotype: potential role as a biomarker. (PMID: 18498293) Glas J … Folwaczny M (Tissue antigens 2008) 3 22 45 60
  5. Amino acid variants in Surfactant protein D are not associated with bronchial asthma. (PMID: 16426259) Krueger M … Heinzmann A (Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2006) 3 22 45 60

Products for SFTPD Gene

Sources for SFTPD Gene

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