Gene Gene information from NCBI Gene database.
Entrez ID 6441
Gene name Surfactant protein D
Gene symbol SFTPD
Synonyms (NCBI Gene)
COLEC7PSP-DSFTP4SP-D
Chromosome 10
Chromosome location 10q22.3
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]
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT019062 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
CEBPA Activation 11912209
CEBPB Activation 11912209
CEBPG Activation 11912209
FOSL1 Unknown 10915785
JUNB Unknown 10915785
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001817 Process Regulation of cytokine production NAS 9751757
GO:0002376 Process Immune system process IEA
GO:0002682 Process Regulation of immune system process IEA
GO:0005515 Function Protein binding IPI 12884308, 28228557, 33784482, 34054808, 34439781
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
178635 10803 ENSG00000133661
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35247
Protein name Pulmonary surfactant-associated protein D (PSP-D) (SP-D) (Collectin-7) (Lung surfactant protein D)
Protein 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. Ma
PDB 1B08 , 1M7L , 1PW9 , 1PWB , 2GGU , 2GGX , 2ORJ , 2ORK , 2OS9 , 2RIA , 2RIB , 2RIC , 2RID , 2RIE , 3DBZ , 3G81 , 3G83 , 3G84 , 3IKN , 3IKP , 3IKQ , 3IKR , 4E52 , 4M17 , 4M18 , 5OXR , 5OXS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 42 105 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 163 224 Collagen triple helix repeat (20 copies) Repeat
PF09006 Surfac_D-trimer 224 269 Lung surfactant protein D coiled-coil trimerisation Coiled-coil
PF00059 Lectin_C 271 375 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lung, brain, pancreas and adipose tissue (mainly mature adipocytes). {ECO:0000269|PubMed:23478426}.
Sequence
Sequence length 375
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phagosome   Toll Like Receptor 4 (TLR4) Cascade
Toll Like Receptor TLR1:TLR2 Cascade
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Signal regulatory protein family interactions
Surfactant metabolism
Regulation of TLR by endogenous ligand
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27667327
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30124598
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17549420, 7671236
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28745320
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 30127783
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 31355132
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27667327
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 19493231
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 30672154
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 16387789, 25716998, 26748346, 28472244, 29473039, 29769460, 31616435
★☆☆☆☆
Found in Text Mining only