SLCtables

SLC34A3

Protein name: NaPi-IIc Aliases: N/D Substrates: inorganic phosphate (divalent) Transport type: Cotransporter / Na, HPO42- Tissue and cellular expression: kidney (proximal tubule) Subcellular expression: apical membrane (kidney) Disease: hypophosphatemic rickets with hypercalciuria Locus: 9q34 Sequence ID: NP_001170787.1, NM_001177316.1 NP_001170788.1, NM_001177317.1 NP_543153.1, NM_080877.2 Gene ID: 142680 Splice variants: N/D

NPT2C_HUMAN (UniProt)

Gene names: SLC34A3, NPT2C, NPTIIC
Protein names and data: NPT2C_HUMAN, Full=Sodium-dependent phosphate transport protein 2C;Short=Sodium-phosphate transport protein 2C, Full=Na(+)-dependent phosphate cotransporter 2C;Full=Sodium/inorganic phosphate cotransporter IIC;Full=Sodium/phosphate cotransporter 2C;Short=Na(+)/Pi cotransporter 2C;Short=NaPi-2c;Full=Solute carrier family 34 member 3; Length: 599 a.a., Mass: 63550 Da,
fasta formatted sequence
Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx
Disease: (OMIM: 241530 609826) Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]. HHRH is an autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion
Cellular location: Membrane; Multi-pass membrane protein

Database cross-references

UniProt: Q8N130
NextBio: 84599
OMIM: 241530 609826
Ensembl: ENST00000538474
GeneCard: GC09P137230
TCDB: 2.A.58.1.3
PharmGenUCSF: SLC34A3
Guide to Pharmacology: SLC34A3 (1137)
SLC34 family of sodium phosphate co-transporters (1137)
HGNC: HGNC:20305

Genetic variants

See also Ensembl:ENST00000538474

67 - 67 R -> H (in dbSNP:rs34372115). VAR_025706 34372115
138 - 138 S -> F (in HHRH). VAR_025707
180 - 180 G -> A (in dbSNP:rs35643193). VAR_025708 35643193
192 - 192 S -> L (in HHRH). VAR_025709
196 - 196 G -> R (in HHRH). VAR_025710
237 - 237 D -> N. VAR_025711
337 - 337 G -> S (in dbSNP:rs35699762). VAR_025712 35699762
353 - 353 R -> L (in HHRH). VAR_025713
413 - 413 A -> E (in HHRH). VAR_025714
468 - 468 R -> W (in HHRH). VAR_025715
513 - 513 E -> V (in dbSNP:rs28542318). VAR_025716 28542318