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MGP004288

UniProt Annotations

Entry Information
Gene Namesolute carrier family 34 (type II sodium/phosphate cotransporter), member 2
Protein EntryNPT2B_HUMAN
UniProt IDO95436
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=NaPi-3b; IsoId=O95436-1; Sequence=Displayed; Name=2; Synonyms=NaPi-2b, NaPi-IIb; IsoId=O95436-2; Sequence=VSP_016755;
Biophysicochemical PropertiespH dependence: Optimum pH is 6.6. {ECO:0000269|PubMed:10329428};
DiseaseNote=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. {ECO:0000269|PubMed:12661006}.
DiseasePulmonary alveolar microlithiasis (PALM) [MIM:265100]: 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. {ECO:0000269|PubMed:16960801}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli.
InductionDown-regulated by EGF. {ECO:0000269|PubMed:11171583}.
Sequence CautionSequence=BAC11354.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the SLC34A transporter family. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityHighly 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. {ECO:0000269|PubMed:10329428, ECO:0000269|PubMed:10610722}.
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