Defective SLC34A2 does not cotransport HPO4(2-), 3Na+ from extracellular region to cytosol

Stable Identifier
R-HSA-5687585
Type
Reaction [transition]
Species
Homo sapiens
Compartment
plasma membrane, extracellular region
ReviewStatus
5/5
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Defective SLC34A2 does not cotransport HPO4(2-), 3Na+ from extracellular region to cytosol
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The human gene SLC34A2 encodes NaPi-2b which is abundantly expressed in lung and to a lesser degree in epithelia of other tissues including small intestine, pancreas, prostate, and kidney. In the lung, SLC34A2 is expressed only in alveolar type II cells, which are responsible for surfactant production, so it is proposed that it uptakes liberated phosphate from the alveolar fluid for surfactant production. SLC34A2 cotransports divalent phosphate (HPO4(2-)) with three Na+ ions (electrogenic transport) from the extracellular region into alveolar type II cells. Defects in SLC34A2 can cause pulmonary alveolar microlithiasis (PALM; MIM:265100), a rare disease characterised by the deposition of calcium phosphate microliths (tiny, roundish corpuscles) throughout the lung. Most patients remain asymptomatic for years or decades, the disease following a long-term, progressive course resulting in slow deterioration of lung functions. Mutations leading to PALM include Q76*, G106R, V448*, K304* and Q486* (Corut et al. 2006, Yin et al. 2013, Proesmans et al. 2012).
Literature References
PubMed ID Title Journal Year
16960801 Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis

Corut, A, Senyigit, A, Ugur, SA, Altin, S, Ozcelik, U, Calisir, H, Yildirim, Z, Gocmen, A, Tolun, A

Am J Hum Genet 2006
23164546 SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures

Yin, X, Wang, H, Wu, D, Zhao, G, Shao, J, Dai, Y

Respir Med 2013
22311166 Pulmonary alveolar microlithiasis: a case report and review of the literature

Proesmans, M, Boon, M, Verbeken, E, Ozcelik, U, Kiper, N, Van de Casseye, W, De Boeck, K

Eur. J. Pediatr. 2012
Participants
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as an event of
Catalyst Activity

sodium:phosphate symporter activity of SLC34A2 mutants [plasma membrane]

Physical Entity
SLC34A2 mutants [plasma membrane] (Homo sapiens)
Activity
sodium:phosphate symporter activity (GO:0005436)
Normal reaction
SLC34A1,2 cotransports Pi, 3Na+ from extracellular region to cytosol (Homo sapiens)
Functional status

Loss of function of SLC34A2 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
pulmonary alveolar microlithiasis DOID:12117 pulmonary alveolar microlithiasis (disorder)
Cross References
Mondo
Authored
Jassal, B  (2015-04-08)
Reviewed
D'Eustachio, P  (2015-08-17)
Created
Jassal, B  (2015-04-08)
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