Homo sapiens surfactant protein B (SFTPB), transcript variant 2, mRNA.
| RefSeq Version | NM_198843.2, 288856296 |
| Length | 2854 bp |
| Structure | linear |
| Update Date | 21-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens surfactant protein B (SFTPB), transcript variant 2, mRNA. |
| Product | pulmonary surfactant-associated protein B precursor |
| Comment | Summary: 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% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified. Transcript Variant: This variant (2) lacks an internal segment in the 3' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein. |
| RefSeq | NP_942140.2 |
| CDS | 101..1282 | Exon (1) | 1..68 | Exon (2) | 1..68 | Exon (3) | 69..203 | Exon (4) | 204..331 | Exon (5) | 332..403 | Exon (6) | 404..529 | Exon (7) | 530..718 | Exon (8) | 719..808 | Exon (9) | 809..992 | Exon (10) | 993..1138 | Exon (11) | 1139..1219 | Exon (12) | 1220..1301 | Exon (13) | 1302..2840 |
| Translation | MHQAGYPGCRGAMAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQ
CRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQDTMRKFLEQECNVLPLKLL
MPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPL
PDPLLDKLVLPVLPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMIPKGALA
VAVAQVCRVVPLVAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLRCSMDDSAGPRSP
TGEWLPRDSECHLCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVEQHTPQLLT
LVPRGWDAHTTCQALGVCGTMSSPLQCIHSPDL
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| Gene Symbol | SFTPB |
| Gene Synonym | PSP-B; SFTB3; SFTP3; SMDP1; SP-B |
| Chromosome | 2 |
| Locus Map | 2p12-p11.2 |
| All Transcripts | NM_198843 , NM_000542 |
| Title | Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals . |
| Author | Baekvad-Hansen,M., Nordestgaard,B.G. and Dahl,M. |
| Journal | Eur. Respir. J. 37 (4), 791-799 (2011) |
| Title | Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD . |
| Author | Kim,W.J., Hoffman,E., Reilly,J., Hersh,C., Demeo,D., Washko,G. and Silverman,E.K. |
| Journal | Eur. Respir. J. 37 (1), 39-43 (2011) |
| Title | Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls . |
| Author | Schuurhof,A., Bont,L., Siezen,C.L., Hodemaekers,H., van Houwelingen,H.C., Kimman,T.G., Hoebee,B., Kimpen,J.L. and Janssen,R. |
| Journal | Pediatr. Pulmonol. 45 (6), 608-613 (2010) |
| Title | Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation . |
| Author | Cho,M.H., Washko,G.R., Hoffmann,T.J., Criner,G.J., Hoffman,E.A., Martinez,F.J., Laird,N., Reilly,J.J. and Silverman,E.K. |
| Journal | Respir. Res. 11, 30 (2010) |
| Title | Amniotic fluid concentration of surfactant proteins in intra-amniotic infection . |
| Author | Chaiworapongsa,T., Hong,J.S., Hull,W.M., Romero,R. and Whitsett,J.A. |
| Journal | J. Matern. Fetal. Neonatal. Med. 21 (9), 663-670 (2008) |
| Title | Surfactant protein B detection and gene expression in chronic rhinosinusitis . |
| Author | Woodworth,B.A., Wood,R., Bhargave,G., Cohen,N.A., Baatz,J.E. and Schlosser,R.J. |
| Journal | Laryngoscope 117 (7), 1296-1301 (2007) |
| Title | Intracellular processing of pulmonary surfactant protein B in an endosomal/lysosomal compartment . |
| Author | Voorhout,W.F., Veenendaal,T., Haagsman,H.P., Weaver,T.E., Whitsett,J.A., van Golde,L.M. and Geuze,H.J. |
| Journal | Am. J. Physiol. 263 (4 PT 1), L479-L486 (1992) |
| Title | Effect of pulmonary surfactant protein B (SP-B) and calcium on phospholipid adsorption and squeeze-out of phosphatidylglycerol from binary phospholipid monolayers containing dipalmitoylphosphatidylcholine . |
| Author | Yu,S.H. and Possmayer,F. |
| Journal | Biochim. Biophys. Acta 1126 (1), 26-34 (1992) |
| Title | Human surfactant polypeptide SP-B. Disulfide bridges, C-terminal end, and peptide analysis of the airway form . |
| Author | Johansson,J., Jornvall,H. and Curstedt,T. |
| Journal | FEBS Lett. 301 (2), 165-167 (1992) |
| Title | Chromosomal localization of three pulmonary surfactant protein genes in the mouse . |
| Author | Moore,K.J., D'Amore-Bruno,M.A., Korfhagen,T.R., Glasser,S.W., Whitsett,J.A., Jenkins,N.A. and Copeland,N.G. |
| Journal | Genomics 12 (2), 388-393 (1992) |
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