SFTPD (surfactant protein D)

2007-02-01  

Identity

HGNC
SFTPD
LOCATION
10q22.3
LOCUSID
6441
ALIAS
COLEC7,PSP-D,SFTP4,SP-D
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6441
MIM: 178635
HGNC: 10803
Ensembl: ENSG00000133661

Variants:

dbSNP: 6441
ClinVar: 6441
TCGA: ENSG00000133661
COSMIC: SFTPD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133661ENST00000372292P35247
ENSG00000133661ENST00000444384Q5T0M2

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Diseases of metabolismREACTOMER-HSA-5668914
Diseases associated with surfactant metabolismREACTOMER-HSA-5687613
Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)REACTOMER-HSA-5687868
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)REACTOMER-HSA-5688890
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)REACTOMER-HSA-5688849
Surfactant metabolismREACTOMER-HSA-5683826
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)REACTOMER-HSA-5683678

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
122441992002Role of surfactant proteins A, D, and C1q in the clearance of apoptotic cells in vivo and in vitro: calreticulin and CD91 as a common collectin receptor complex.129
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
191643442009Serum surfactant protein D is steroid sensitive and associated with exacerbations of COPD.65
136803612003Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.61
120322632002Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection.60
120322632002Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection.60
168343402006Human pulmonary surfactant protein D binds the extracellular domains of Toll-like receptors 2 and 4 through the carbohydrate recognition domain by a mechanism different from its binding to phosphatidylinositol and lipopolysaccharide.50
167098572006Innate defense against influenza A virus: activity of human neutrophil defensins and interactions of defensins with surfactant protein D.47

Citation

Dessen P

SFTPD (surfactant protein D)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45631/sftpd