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] See more...

Aliases for SFTPD Gene

Aliases for SFTPD Gene

  • Surfactant Protein D 2 3 5
  • COLEC7 2 3 4
  • SP-D 2 3 4
  • Pulmonary Surfactant-Associated Protein D 3 4
  • Lung Surfactant Protein D 3 4
  • Collectin-7 3 4
  • PSP-D 3 4
  • SFTP4 3 4
  • Surfactant, Pulmonary-Associated Protein D 2
  • Surfactant-Associated Protein, Pulmonary 4 3
  • Pulmonary Surfactant Apoprotein 3
  • SFTPD 5
  • 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 Idiopathic Interstitial Pneumonia. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SFTPA2.

UniProtKB/Swiss-Prot Summary for SFTPD Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFTPD Gene

Genomics for SFTPD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFTPD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFTPD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFTPD

Top Transcription factor binding sites by QIAGEN in the SFTPD gene promoter:
  • AP-1
  • Arnt
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • IRF-7A
  • JunB
  • JunD
  • Pax-4a

Genomic Locations for SFTPD Gene

Latest Assembly
chr10:79,937,467-79,982,614
(GRCh38/hg38)
Size:
45,148 bases
Orientation:
Minus strand

Previous Assembly
chr10:81,697,496-81,708,861
(GRCh37/hg19 by Entrez Gene)
Size:
11,366 bases
Orientation:
Minus strand

chr10:81,697,496-81,742,370
(GRCh37/hg19 by Ensembl)
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

  • The N-terminus is blocked.
  • 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.
  • Glycosylation at Asn90
  • Modification sites at PhosphoSitePlus

Other Protein References for SFTPD Gene

No data available for DME Specific Peptides for SFTPD Gene

Domains & Families for SFTPD Gene

Gene Families for SFTPD Gene

Protein Domains for SFTPD Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat

Suggested Antigen Peptide Sequences for SFTPD Gene

GenScript: Design optimal peptide antigens:
  • Lung surfactant protein D (SFTPD_HUMAN)

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

UniProtKB/Swiss-Prot 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:
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

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:

miRNA for SFTPD Gene

miRTarBase miRNAs that target SFTPD

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPD

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
lysosome 5
endoplasmic reticulum 4
endosome 4
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SFTPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 9751757
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005764 lysosome TAS 10485905
GO:0005771 multivesicular body IBA 21873635
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

SIGNOR curated interactions for SFTPD Gene

Is activated by:

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

Drugs & Compounds for SFTPD Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma Target 0

(20) 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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPD

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

No ASD Table

Relevant External Links for SFTPD Gene

GeneLoc Exon Structure for
SFTPD

Expression for SFTPD Gene

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



Protein tissue co-expression partners for SFTPD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.4)
  • Skin(2)

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

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

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 29
  • 93.91 (n)
Dog
(Canis familiaris)
Mammalia SFTPD 29 30
  • 80.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SFTPD 29 30
  • 80.77 (n)
OneToMany
CL46 30
  • 70 (a)
OneToMany
CGN1 30
  • 67 (a)
OneToMany
CL43 30
  • 62 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Sftpd 29 16 30
  • 80.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sftpd 29
  • 79.06 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SFTPD 30
  • 64 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 63 (a)
OneToMany
-- 30
  • 53 (a)
OneToMany
-- 30
  • 51 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia SFTPD 30
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100135366 29
  • 51.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii hbl2 30
  • 38 (a)
ManyToMany
hbl4 30
  • 37 (a)
ManyToMany
hbl1 30
  • 35 (a)
ManyToMany
hbl3 30
  • 33 (a)
ManyToMany
CR847898.1 30
  • 25 (a)
ManyToMany
Species where no ortholog for SFTPD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SFTPD: view image
Alliance of Genome Resources:
Additional Orthologs for SFTPD

Paralogs for SFTPD Gene

Paralogs for SFTPD Gene

(24) SIMAP similar genes for SFTPD Gene using alignment to 3 proteins:

  • SFTPD_HUMAN
  • G5CCM8_HUMAN
  • Q5T0M2_HUMAN
genes like me logo Genes that share paralogs with SFTPD: view

Variants for SFTPD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFTPD Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1051246 Benign: not specified 79,938,062(-) A/G
NM_003019.5(SFTPD):c.918T>C (p.Ala306=)
SYNONYMOUS
rs142564545 Likely Benign: not specified 79,946,502(-) C/T
NM_003019.5(SFTPD):c.158G>A (p.Arg53Gln)
MISSENSE
rs17878336 Benign: not specified 79,942,454(-) G/Cp.Leu123Val
NM_003019.5(SFTPD):c.367C>G (p.Leu123Val)
MISSENSE
rs17880072 Benign: not specified 79,938,243(-) AAGTC/A
NM_003019.5(SFTPD):c.752-19_752-16del
INTRON
rs17885228 Benign: not specified 79,942,782(-) C/T
NM_003019.5(SFTPD):c.297G>A (p.Lys99=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SFTPD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SFTPD Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SFTPD Gene

MalaCards: The human disease database

(55) MalaCards diseases for SFTPD Gene - From: COP and GCD

Disorder Aliases PubMed IDs
extrinsic allergic alveolitis
  • alveolitis
idiopathic interstitial pneumonia
  • diffuse idiopathic pulmonary fibrosis
pulmonary alveolar proteinosis
aspergillosis
  • aspergillosis, susceptibility to
interstitial lung disease
  • ild
- elite association - COSMIC cancer census association via MalaCards
Search SFTPD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SFTPD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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 40
  4. The additive contribution from inflammatory genetic markers on the severity of cardiovascular disease. (PMID: 19140875) Berg KK … Videm V (Scandinavian journal of immunology 2009) 3 22 40
  5. Transmission of surfactant protein variants and haplotypes in children hospitalized with respiratory syncytial virus. (PMID: 19287351) Thomas NJ … Floros J (Pediatric research 2009) 3 22 40

Products for SFTPD Gene

Sources for SFTPD Gene