SLC34A1
Function
Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:12324554, PubMed:20335586, PubMed:26047794, PubMed:8327470). The cotransport has a Na(+):Pi stoichiometry of 3:1 and is electrogenic (By similarity).
Involvement in disease
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
NPHLOP1
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Fanconi renotubular syndrome 2
FRTS2
A form of Fanconi renotubular syndrome, 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. FRTS2 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypercalcemia, infantile, 2
HCINF2
An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SLC34A transporter family.
Tissue Specificity
Kidney and lung.
Cellular localization
- Apical cell membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
- Localized at the brush border membranes of the proximal tubules. Internalized from the cell surface upon PTH stimulation.
Alternative names
NPT2, SLC17A2, SLC34A1, Sodium-dependent phosphate transport protein 2A, Sodium-phosphate transport protein 2A, Na(+)-dependent phosphate cotransporter 2A, NaPi-3, Sodium/phosphate cotransporter 2A, Solute carrier family 34 member 1, Na(+)/Pi cotransporter 2A, NaPi-2a