Surfactant, Pulmonary-Associated Protein B

Alternative Names

  • SFTPB
  • Surfactant-Associated Protein, Pulmonary, 3
  • SFTP3
  • Pulmonary Surfactant Apoprotein PSP-B
  • SPB
  • Psp-B
  • Pulmonary Surfactant-Associated Protein, 18-Kd
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OMIM Number

178640

NCBI Gene ID

6439

Uniprot ID

P07988

Length

11,435 bases

No. of Exons

12

No. of isoforms

1

Protein Name

Pulmonary surfactant-associated protein B

Molecular Mass

42117 Da

Amino Acid Count

381

Genomic Location

chr2:85,657,306-85,668,740

Gene Map Locus
2p11.2

Description

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.[provided by RefSeq, Feb 2010]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000542.3:c.1039-6C>GUnited Arab EmiratesNC_000002.12:g.85662115G>CUncertain SignificanceSurfactant Metabolism Dysfunction, Pulmonary, 1NM_000542.3:c.1039-6C>G; NP_000533.3:p.?
NM_198843.2:c.401delT LebanonNC_000002.12:g.85666645delPathogenicSurfactant Metabolism Dysfunction, Pulmonary, 1NG_016967.1:g.7097del; NM_198843.2:c.401delT ; NP_942140.2:p.Leu134ArgfsTer93
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