SLC34A2 gene

solute carrier family 34 member 2

The SLC34A2 gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). Although this protein can be found in several organs and tissues in the body, it is located mainly in the millions of small air sacs (alveoli) in the lungs, specifically in cells called alveolar type II cells. These cells produce and recycle surfactant, which is a mixture of certain phosphate-containing fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. The recycling of surfactant releases phosphate into the alveoli. Research suggests that the type IIb sodium-phosphate cotransporter normally helps clear this phosphate.

At least 14 SLC34A2 gene mutations have been identified in people with pulmonary alveolar microlithiasis, a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the alveoli. These deposits eventually cause widespread lung damage (interstitial lung disease) that leads to breathing problems.

SLC34A2 gene mutations are thought to impair the activity of the type IIb sodium-phosphate cotransporter, resulting in the accumulation of phosphate in the alveoli. The accumulated phosphate forms the microliths that cause the signs and symptoms of pulmonary alveolar microlithiasis.

Cytogenetic Location: 4p15.2, which is the short (p) arm of chromosome 4 at position 15.2

Molecular Location: base pairs 25,655,813 to 25,678,748 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p15.2, which is the short (p) arm of chromosome 4 at position 15.2
  • NAPI-3B
  • NAPI-IIb
  • NPTIIb
  • sodium-dependent phosphate transport protein 2B
  • sodium/phosphate cotransporter 2B
  • solute carrier family 34 (sodium phosphate), member 2
  • solute carrier family 34 (type II sodium/phosphate contransporter), member 2
  • solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
  • type II sodium-dependent phosphate transporter 3b