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SFTPD surfactant protein D [ Homo sapiens (human) ]

Gene ID: 6441, updated on 5-Mar-2024

Summary

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Official Symbol
SFTPDprovided by HGNC
Official Full Name
surfactant protein Dprovided by HGNC
Primary source
HGNC:HGNC:10803
See related
Ensembl:ENSG00000133661 MIM:178635; AllianceGenome:HGNC:10803
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SP-D; PSP-D; SFTP4; COLEC7
Summary
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]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression
Restricted expression toward lung (RPKM 293.0) See more
Orthologs
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Genomic context

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Location:
10q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79937740..79982383, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80806973..80851624, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81697496..81708861, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene protein geranylgeranyltransferase type I subunit beta pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3648 Neighboring gene BMS1 pseudogene 21 Neighboring gene mannose binding lectin 1, pseudogene Neighboring gene DPY19L2 pseudogene 5 Neighboring gene zinc and ring finger 2 pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:81754777-81755008 Neighboring gene C1D nuclear receptor corepressor pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population. Rizvi Z, et al. Genes (Basel), 2023 May 22. PMID 37239479, Free PMC Article
  2. Association of surfactant protein D gene polymorphism with susceptibility to gestational diabetes mellitus: a case-control study. Xu J, et al. BMC Pregnancy Childbirth, 2022 Mar 22. PMID 35317741, Free PMC Article
  3. Relationship of surfactant protein-D with random blood glucose and extra pulmonary infections in type-2 diabetes mellitus. Jawed S, et al. J Pak Med Assoc, 2021 Jan. PMID 35157648
  4. Role of serum surfactant protein-D as a prognostic predictor in fibrotic hypersensitivity pneumonitis. Ejima M, et al. Respir Investig, 2022 May. PMID 34998715
  5. Association of serum surfactant protein D and SFTPD gene variants with asthma in Danish children, adolescents, and young adults. Hoffmann-Petersen B, et al. Immun Inflamm Dis, 2022 Feb. PMID 34780682, Free PMC Article

See all (274) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Surfactant protein D prevents mucin overproduction in airway goblet cells via SIRPalpha.
    Title: Surfactant protein D prevents mucin overproduction in airway goblet cells via SIRPα.
  2. Early life surfactant protein-D levels in bronchoalveolar lavage fluids of extremely preterm neonates.
    Title: Early life surfactant protein-D levels in bronchoalveolar lavage fluids of extremely preterm neonates.
  3. Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population.
    Title: Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population.
  4. Human surfactant protein D facilitates SARS-CoV-2 pseudotype binding and entry in DC-SIGN expressing cells, and downregulates spike protein induced inflammation.
    Title: Human surfactant protein D facilitates SARS-CoV-2 pseudotype binding and entry in DC-SIGN expressing cells, and downregulates spike protein induced inflammation.
  5. Surfactant protein D is a biomarker of influenza-related pediatric lung injury.
    Title: Surfactant protein D is a biomarker of influenza-related pediatric lung injury.
  6. Role of serum surfactant protein-D as a prognostic predictor in fibrotic hypersensitivity pneumonitis.
    Title: Role of serum surfactant protein-D as a prognostic predictor in fibrotic hypersensitivity pneumonitis.
  7. Surfactant protein D: a predictor for severity of community-acquired pneumonia in children.
    Title: Surfactant protein D: a predictor for severity of community-acquired pneumonia in children.
  8. Association of serum surfactant protein D and SFTPD gene variants with asthma in Danish children, adolescents, and young adults.
    Title: Association of serum surfactant protein D and SFTPD gene variants with asthma in Danish children, adolescents, and young adults.
  9. Association of surfactant protein D gene polymorphism with susceptibility to gestational diabetes mellitus: a case-control study.
    Title: Association of surfactant protein D gene polymorphism with susceptibility to gestational diabetes mellitus: a case-control study.
  10. Relationship of surfactant protein-D with random blood glucose and extra pulmonary infections in type-2 diabetes mellitus.
    Title: Relationship of surfactant protein-D with random blood glucose and extra pulmonary infections in type-2 diabetes mellitus.
Submit: New GeneRIF Correction See all GeneRIFs (224)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env SP-D inhibits HIV-1 gp120-CD4 interaction and acts like cell entry inhibitor of HIV-1 PubMed
env Surfactant protein D (SP-D) binds to HIV-1 gp120 and inhibits HIV infectivity; the binding of SP-D to gp120 depends on glycosylation of gp120 and multimerization of SP-D PubMed
env SP-D enhances the binding of HIV-1 gp120 to iMDDCs and induces viral uptake and transfer of HIV from iMDDCs to CD4+ T cells PubMed
env The binding of sDC-SIGN to HIV-1 gp120 is significantly inhibited by SP-D in a dose-dependent manner, indicating an overlap with the binding site for SP-D PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 binds to surfactant protein D in a dose- and calcium-dependent manner PubMed
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 binds to surfactant protein D in a dose- and calcium-dependent manner PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in defense response to bacterium TAS
Traceable Author Statement
more info
 PubMed 
involved_in innate immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in lung alveolus development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in macrophage chemotaxis TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of T cell proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of interleukin-2 production TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of phagocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of phagocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in reactive oxygen species metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cytokine production NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in respiratory gaseous exchange by respiratory system IEA
Inferred from Electronic Annotation
more info
  
involved_in surfactant homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in surfactant homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle TAS
Traceable Author Statement
more info
  
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
located_in endocytic vesicle TAS
Traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome TAS
Traceable Author Statement
more info
 PubMed 
is_active_in multivesicular body IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
pulmonary surfactant-associated protein D
Names
collectin-7
lung surfactant protein D
pulmonary surfactant apoprotein
surfactant-associated protein, pulmonary 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042218.1 RefSeqGene

    Range
    5001..16366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003019.5 → NP_003010.4  pulmonary surfactant-associated protein D precursor

    See identical proteins and their annotated locations for NP_003010.4

    Status: REVIEWED

    Source sequence(s)
    BC022318, BI820265, BM985387
    Consensus CDS
    CCDS7362.1
    UniProtKB/Swiss-Prot
    P35247, Q5T0M3, Q6FH08, Q86YK9, Q8TCD8, Q9UCJ2, Q9UCJ3
    Related
    ENSP00000361366.3, ENST00000372292.8
    Conserved Domains (3) summary
    cd03591
    Location:262 → 375
    CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
    pfam01391
    Location:130 → 201
    Collagen; Collagen triple helix repeat (20 copies)
    pfam09006
    Location:224 → 269
    Surfac_D-trimer; Lung surfactant protein D coiled-coil trimerization

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    79937740..79982383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540087.2 → XP_011538389.1  pulmonary surfactant-associated protein D isoform X1

    See identical proteins and their annotated locations for XP_011538389.1

    UniProtKB/Swiss-Prot
    P35247, Q5T0M3, Q6FH08, Q86YK9, Q8TCD8, Q9UCJ2, Q9UCJ3
    Conserved Domains (3) summary
    cd03591
    Location:262 → 375
    CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
    pfam01391
    Location:130 → 201
    Collagen; Collagen triple helix repeat (20 copies)
    pfam09006
    Location:224 → 269
    Surfac_D-trimer; Lung surfactant protein D coiled-coil trimerization

  2. XM_011540088.3 → XP_011538390.1  pulmonary surfactant-associated protein D isoform X2

    See identical proteins and their annotated locations for XP_011538390.1

    Conserved Domains (3) summary
    cd03591
    Location:223 → 336
    CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
    pfam01391
    Location:73 → 132
    Collagen; Collagen triple helix repeat (20 copies)
    pfam09006
    Location:185 → 230
    Surfac_D-trimer; Lung surfactant protein D coiled-coil trimerization

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    80806973..80851624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366588.1 → XP_054222563.1  pulmonary surfactant-associated protein D isoform X1

  2. XM_054366589.1 → XP_054222564.1  pulmonary surfactant-associated protein D isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35247.3 GenPept UniProtKB/Swiss-Prot:P35247

Gene LinkOut

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