The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

SLC34A1  -  solute carrier family 34 (type II...

Homo sapiens

Synonyms: FRTS2, NAPI-3, NPHLOP1, NPT2, NPTIIa, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of SLC34A1


High impact information on SLC34A1

  • Npt2 encodes a renal-specific, brush-border membrane Na+-phosphate (Pi) cotransporter that is expressed in the proximal tubule where the bulk of filtered Pi is reabsorbed [4].
  • Our findings demonstrate that Npt2 is a major regulator of Pi homeostasis and necessary for normal skeletal development [4].
  • At weaning, Npt2(-/-) mice have poorly developed trabecular bone and retarded secondary ossification, but, with increasing age, there is a dramatic reversal and eventual overcompensation of the skeletal phenotype [4].
  • Two transcription start sites (at positions -9 and - 10 with respect to nucleotide 1 of NaPi-7 cDNA) and two polyadenylylation signals were identified in the Npt2 gene by primer extension, 5' and 3' rapid amplification of cDNA ends (RACE) [6].
  • A 484-bp 5' flanking region of the Npt2 gene, comprising the CAAT box, TATA box, and exon 1, was cloned upstream of a luciferase reporter gene; this construct significantly stimulated luciferase gene expression, relative to controls, when transiently transfected into OK cells, a renal cell line expressing type II Na+ -Pi cotransporter activity [6].

Biological context of SLC34A1

  • We have isolated two cDNA clones, NaPi-2 and NaPi-3, by screening rat kidney cortex and human kidney cortex cDNA libraries, respectively, for expression of sodium-dependent phosphate transport in Xenopus laevis oocytes [7].
  • Linkage analysis indicated that the two NPT2 intragenic SNP as well as five microsatellite markers in the NPT2 gene region were not linked to HHRH in the Bedouin kindred [2].
  • Mice deficient in the Npt2 gene were generated by targeted mutagenesis to define the role of Npt2 in the overall maintenance of Pi homeostasis, determine its impact on skeletal development, and clarify its relationship to autosomal disorders of renal Pi reabsorption in humans [4].
  • We investigated whether a mutation of Phex (phosphate regulating gene homologies to endopeptidase on the X chromosome) has an effect on the expression level of type II sodium-dependent phosphate co-transporter (Npt2) in the developing teeth of the Hyp mouse [8].
  • Transfection of fetal rat intestinal epithelial cells by viral oncogenes: establishment and characterization of the E1A-immortalized SLC-11 cell line [5].

Anatomical context of SLC34A1

  • Two distinct renal Na-dependent Pi transporters, type IIa (NPT2a, SLC34A1) and type IIc (NPT2c, SLC34A3), are expressed in brush border membrane of proximal tubular cells where the bulk of filtered Pi is reabsorbed [9].
  • Vitamin D responsiveness of the NaPi-3 promoter was also detected in COS-7 cells co-transfected with a human vitamin D receptor expression vector [3].
  • Quantitative RT-PCR analyses revealed that the amount of Npt2b mRNA, an isoform of Npt2, in Hyp mouse tooth germs was significantly lower than that in wild-type mice, in both in vivo and in vitro experiments [8].
  • It is concluded that immortal SLC-11 cells are a suitable model for studying the proliferation and differentiation of epithelial intestinal cells and analyzing cancer progression in the gastrointestinal tract [5].
  • Inorganic phosphate (Pi) induced an inward current (IP) in Xenopus oocytes expressing the human renal Na+/Pi cotransporter NaPi-3 [10].

Associations of SLC34A1 with chemical compounds

  • The onset of renal stones correlated developmentally with the absence of Npt2 expression and the expression of the genes responsible for the renal production (1alpha-hydroxylase) and catabolism (24-hydroxylase) of 1,25-dihydroxyvitamin D [1].
  • Arsenate induced inward currents through NaPi-3 and decreased the apparent Km in measurements of IP [10].
  • A T855C polymorphism resulting in a histidine to arginine transition was present in the open reading frame of NPT2 [11].

Other interactions of SLC34A1

  • This review summarizes the characteristics of the solute carrier family SLC34 that is represented by the type ll Na/P(i)-cotransporters NaPi-lla (SLC34A1), NaPi-llb (SLC34A2) and NaPi-llc (SLC34A3) [12].
  • Mutations in the gene encoding the human sodium-phosphate cotransporter (NPT2), causing reduced phosphate affinity and dominant-negative behavior, were described [13].
  • These characteristics were different from those reported for hNaPi-3 and hPiT-1 in other systems [14].

Analytical, diagnostic and therapeutic context of SLC34A1


  1. Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. Chau, H., El-Maadawy, S., McKee, M.D., Tenenhouse, H.S. J. Bone Miner. Res. (2003) [Pubmed]
  2. Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. Jones, A., Tzenova, J., Frappier, D., Crumley, M., Roslin, N., Kos, C., Tieder, M., Langman, C., Proesmans, W., Carpenter, T., Rice, A., Anderson, D., Morgan, K., Fujiwara, T., Tenenhouse, H. J. Am. Soc. Nephrol. (2001) [Pubmed]
  3. Gene structure and functional analysis of the human Na+/phosphate co-transporter. Taketani, Y., Miyamoto, K., Tanaka, K., Katai, K., Chikamori, M., Tatsumi, S., Segawa, H., Yamamoto, H., Morita, K., Takeda, E. Biochem. J. (1997) [Pubmed]
  4. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Beck, L., Karaplis, A.C., Amizuka, N., Hewson, A.S., Ozawa, H., Tenenhouse, H.S. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  5. Transfection of fetal rat intestinal epithelial cells by viral oncogenes: establishment and characterization of the E1A-immortalized SLC-11 cell line. Emami, S., Mir, L., Gespach, C., Rosselin, G. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  6. Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2). Hartmann, C.M., Hewson, A.S., Kos, C.H., Hilfiker, H., Soumounou, Y., Murer, H., Tenenhouse, H.S. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  7. Expression cloning of human and rat renal cortex Na/Pi cotransport. Magagnin, S., Werner, A., Markovich, D., Sorribas, V., Stange, G., Biber, J., Murer, H. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  8. Phex mutation causes the reduction of npt2b mRNA in teeth. Onishi, T., Okawa, R., Ogawa, T., Shintani, S., Ooshima, T. J. Dent. Res. (2007) [Pubmed]
  9. Phosphate transport: Molecular basis, regulation and pathophysiology. Tenenhouse, H.S. J. Steroid Biochem. Mol. Biol. (2007) [Pubmed]
  10. Properties of electrogenic Pi transport by a human renal brush border Na+/Pi transporter. Busch, A.E., Wagner, C.A., Schuster, A., Waldegger, S., Biber, J., Murer, H., Lang, F. J. Am. Soc. Nephrol. (1995) [Pubmed]
  11. Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene. van den Heuvel, L., Op de Koul, K., Knots, E., Knoers, N., Monnens, L. Nephrol. Dial. Transplant. (2001) [Pubmed]
  12. The sodium phosphate cotransporter family SLC34. Murer, H., Forster, I., Biber, J. Pflugers Arch. (2004) [Pubmed]
  13. Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. Virkki, L.V., Forster, I.C., Hernando, N., Biber, J., Murer, H. J. Bone Miner. Res. (2003) [Pubmed]
  14. The molecular basis for Na-dependent phosphate transport in human erythrocytes and K562 cells. Timmer, R.T., Gunn, R.B. J. Gen. Physiol. (2000) [Pubmed]
  15. P-glycoprotein inhibitors stimulate renal phosphate reabsorption in rats. Prié, D., Couette, S., Fernandes, I., Silve, C., Friedlander, G. Kidney Int. (2001) [Pubmed]
  16. High resolution mapping of the renal sodium-phosphate cotransporter gene (NPT2) confirms its localization to human chromosome 5q35. McPherson, J.D., Krane, M.C., Wagner-McPherson, C.B., Kos, C.H., Tenenhouse, H.S. Pediatr. Res. (1997) [Pubmed]
  17. Comparative mapping of Na+-phosphate cotransporter genes, NPT1 and NPT2, in human and rabbit. Kos, C.H., Tihy, F., Murer, H., Lemieux, N., Tenenhouse, H.S. Cytogenet. Cell Genet. (1996) [Pubmed]
  18. Expression of Na/Pi cotransport from opossum kidney cells in Xenopus laevis oocytes. Sorribas, V., Markovich, D., Werner, A., Biber, J., Murer, H. Biochim. Biophys. Acta (1993) [Pubmed]
WikiGenes - Universities