Defective SFTPA2 does not translocate from ER membrane to extracellular region

Stable Identifier
Reaction [transition]
Homo sapiens
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One function of the pulmonary collectins, surfactant proteins A1, A2, A3 and D (SFTPAs, D), is that they influence surfactant homeostasis, contributing to the physical structures of lipids in the alveoli and to the regulation of surfactant function and metabolism. They are directly secreted from alveolar type II cells into the airway to function as part of the surfactant. The mechanism of secretion is unknown. Mutations in SFTPA2 disrupt protein structure and the defective protein is retained in the ER membrane causing idiopathic pulmonary fibrosis (IPF; MIM:178500). Mutations that cause IPF are G231V and F198S (Wang et al. 2009).

Literature References
PubMed ID Title Journal Year
19100526 Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer

Garcia, CK, Torres, F, Kuan, PJ, Rosenblatt, RL, Kinch, LN, Wang, Y, Cronkhite, JT, Grishin, NV, Xing, C, DiMaio, JM

Am. J. Hum. Genet. 2009
Normal reaction
Functional status

Loss of function of SFTPA2 mutants [endoplasmic reticulum membrane]

Name Identifier Synonyms
newborn respiratory distress syndrome DOID:12716 Neonatal respiratory Distress syndrome, hyaline membrane disease, HMD - Hyaline membrane disease, pulmonary hypoperfusion syndrome of newborn, respiratory distress syndrome of newborn, pulmonary hyaline membrane disease
idiopathic pulmonary fibrosis DOID:0050156 IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL, FIBROCYSTIC PULMONARY DYSPLASIA, cryptogenic fibrosing alveolitis
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