SLC34A2

Involved in actively transporting phosphate into cells via Na(+) cotransport.

Pulmonary alveolar microlithiasis

PULAM

Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance.

None

The disease is caused by variants affecting the gene represented in this entry.

A chromosomal aberration involving SLC34A2 is found in a glioblastoma multiforme cell line U-118MG. Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity.

Belongs to the SLC34A transporter family.

Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis, prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium.

• Apical cell membrane
• Multi-pass membrane protein
• Localized at the brush border membranes of enterocytes.

Sodium-dependent phosphate transport protein 2B, Sodium-phosphate transport protein 2B, Na(+)-dependent phosphate cotransporter 2B, NaPi3b, Sodium/phosphate cotransporter 2B, Solute carrier family 34 member 2, Na(+)/Pi cotransporter 2B, NaPi-2b, SLC34A2

• entrezGene:10568
• omim:604217
• swissprot:O95436

Proteins

Immunology & Infectious Disease

75759Da