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MGP002898

UniProt Annotations

Entry Information
Gene Namesolute carrier family 34 (type II sodium/phosphate cotransporter), member 1
Protein EntryNPT2A_HUMAN
UniProt IDQ06495
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q06495-1; Sequence=Displayed; Name=2; IsoId=Q06495-2; Sequence=VSP_042311;
DiseaseFanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269|PubMed:20335586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269|PubMed:12324554}. 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 in the renal brush border membrane. Probably mediates 70-80% of the apical influx.
SimilarityBelongs to the SLC34A transporter family. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
SubunitInteracts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1. {ECO:0000250, ECO:0000269|PubMed:22506049}.
Tissue SpecificityKidney and lung.
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