SFTPB (surfactant protein B)

2014-08-01  

Identity

HGNC
SFTPB
LOCATION
2p11.2
LOCUSID
6439
ALIAS
PSP-B,SFTB3,SFTP3,SMDP1,SP-B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6439
MIM: 178640
HGNC: 10801
Ensembl: ENSG00000168878

Variants:

dbSNP: 6439
ClinVar: 6439
TCGA: ENSG00000168878
COSMIC: SFTPB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168878ENST00000393822P07988
ENSG00000168878ENST00000409383P07988
ENSG00000168878ENST00000409383D6W5L6
ENSG00000168878ENST00000428225H0Y7V6
ENSG00000168878ENST00000494165U3KQT2
ENSG00000168878ENST00000519937P07988

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
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
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 pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)REACTOMER-HSA-5688031
Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)REACTOMER-HSA-5688354
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
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
192200772009Genetic disorders of surfactant dysfunction.71
158177132005Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.64
136803612003Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.61
147184422004Polymorphism in the surfactant protein-B gene, gender, and the risk of direct pulmonary injury and ARDS.51
147184422004Polymorphism in the surfactant protein-B gene, gender, and the risk of direct pulmonary injury and ARDS.51
164561432006Genetic association analysis of functional impairment in chronic obstructive pulmonary disease.47
149774152004Alterations in SP-B and SP-C expression in neonatal lung disease.45
172643982006Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.32
183172372008Population and disease-based prevalence of the common mutations associated with surfactant deficiency.31

Citation

Dessen P

SFTPB (surfactant protein B)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54615/sftpb-(surfactant-protein-b)