Gene id |
6439 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
SFTPB Gene UCSC Ensembl |
Aliases |
PSP-B, SFTB3, SFTP3, SMDP1, SP-B |
Gene name |
surfactant protein B |
Alternate names |
pulmonary surfactant-associated protein B, 18 kDa pulmonary-surfactant protein, 6 kDa protein, pulmonary surfactant-associated proteolipid SPL(Phe), |
Gene location |
2p11.2 (85668740: 85657306) Exons: 14 NC_000002.12
|
Gene summary(Entrez) |
This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% p
|
OMIM |
178640 |
Protein Summary
|
Protein general information
| P07988
Name: Pulmonary surfactant associated protein B (SP B) (18 kDa pulmonary surfactant protein) (6 kDa protein) (Pulmonary surfactant associated proteolipid SPL(Phe))
Length: 381 Mass: 42117
|
Sequence |
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDI VHILNKMAKEAIFQDTMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEP EQEPGMSDPLPKPLRDPLPDPLLDKLVLPVLPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMIPKG ALAVAVAQVCRVVPLVAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLRCSMDDSAGPRSPTGEWLPRDSECH LCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVEQHTPQLLTLVPRGWDAHTTCQALGVCGTMSSPLQC IHSPDL
|
Structural information |
|
Other Databases |
GeneCards: SFTPB  Malacards: SFTPB |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0007585 |
respiratory gaseous excha nge by respiratory system
|
TAS |
biological process |
GO:0009887 |
animal organ morphogenesi s
|
TAS |
biological process |
GO:0042599 |
lamellar body
|
TAS |
cellular component |
GO:0042599 |
lamellar body
|
TAS |
cellular component |
GO:0044267 |
cellular protein metaboli c process
|
TAS |
biological process |
GO:0097486 |
multivesicular body lumen
|
TAS |
cellular component |
GO:0097486 |
multivesicular body lumen
|
TAS |
cellular component |
GO:0097486 |
multivesicular body lumen
|
TAS |
cellular component |
GO:0097486 |
multivesicular body lumen
|
TAS |
cellular component |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0005654 |
nucleoplasm
|
TAS |
cellular component |
GO:0005789 |
endoplasmic reticulum mem brane
|
TAS |
cellular component |
GO:0005789 |
endoplasmic reticulum mem brane
|
TAS |
cellular component |
GO:0045334 |
clathrin-coated endocytic vesicle
|
TAS |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005615 |
extracellular space
|
IEA |
cellular component |
GO:0097208 |
alveolar lamellar body
|
IBA |
cellular component |
GO:0005615 |
extracellular space
|
IBA |
cellular component |
GO:0005771 |
multivesicular body
|
IBA |
cellular component |
GO:0005764 |
lysosome
|
IEA |
cellular component |
GO:0006665 |
sphingolipid metabolic pr ocess
|
IEA |
biological process |
GO:0006629 |
lipid metabolic process
|
IEA |
biological process |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0007585 |
respiratory gaseous excha nge by respiratory system
|
IEA |
biological process |
|
|
Associated diseases |
References |
Congenital pulmonary alveolar proteinosis | KEGG:H01122 |
Congenital pulmonary alveolar proteinosis | KEGG:H01122 |
Adult respiratory distress syndrome | PMID:9351625 |
Adult respiratory distress syndrome | PMID:17662121 |
Adult respiratory distress syndrome | PMID:15190959 |
Adult respiratory distress syndrome | PMID:14718442 |
pulmonary alveolar proteinosis | PMID:12612307 |
pulmonary alveolar proteinosis | PMID:16042774 |
newborn respiratory distress syndrome | PMID:18353230 |
newborn respiratory distress syndrome | PMID:12490037 |
newborn respiratory distress syndrome | PMID:7832777 |
newborn respiratory distress syndrome | PMID:12424586 |
newborn respiratory distress syndrome | PMID:11063734 |
Cystic fibrosis | PMID:17507829 |
Asthma | PMID:16629790 |
Interstitial lung disease | PMID:11445799 |
Interstitial lung disease | PMID:18263595 |
Chronic obstructive pulmonary disease | PMID:15817713 |
Pulmonary fibrosis | PMID:13680361 |
lung squamous cell carcinoma | PMID:16570259 |
Lung disease | PMID:8569184 |
Hypospermatogenesis | MIK: 28361989 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
28361989 |
Hyposperma togenesis
|
|
|
6 (3 controls, 3 Klienfelter s yndrome
|
Male infertility |
Microarray
|
Show abstract |
|