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MGP007270

UniProt Annotations

Entry Information
Gene Namesurfactant protein A2
Protein EntrySFPA2_HUMAN
UniProt IDQ8IWL1
SpeciesHuman
Comments
Comment typeDescription
DiseasePulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. {ECO:0000269|PubMed:19100526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIn presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.
MiscellaneousPulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).
PolymorphismAt least 6 alleles of SFTPA2 are known: 1A, 1A(0), 1A(1), 1A(2), 1A(3) and 1A(4). The sequence shown is that of allele 1A(0).
SimilarityBelongs to the SFTPA family. {ECO:0000305}.
SimilarityContains 1 collagen-like domain. {ECO:0000305}.
SimilarityContains 1 C-type lectin domain. {ECO:0000255|PROSITE- ProRule:PRU00040}.
Subcellular LocationSecreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.
SubunitOligomeric complex of 6 set of homotrimers.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sftpa2/";
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