SLC34A3

SLC34A3
Identifiers
AliasesSLC34A3, HHRH, NPTIIc, solute carrier family 34 member 3, NaP2b
External IDsMGI: 2159410 HomoloGene: 15444 GeneCards: SLC34A3
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q34.3Start137,230,757 bp[1]
End137,236,554 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

142680

142681

Ensembl

ENSG00000198569

ENSMUSG00000006469

UniProt

Q8N130

Q80SU6

RefSeq (mRNA)

NM_001177316
NM_001177317
NM_080877

NM_080854
NM_001362748

RefSeq (protein)

NP_001170787
NP_001170788
NP_543153

NP_543130
NP_001349677

Location (UCSC)Chr 9: 137.23 – 137.24 MbChr 2: 25.23 – 25.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.[5][6][7][8]

Function

SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.[8]

Interactions

SLC34A3 has been shown to interact with PDZK1.[9]

Clinical Correlation

A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophophatemic rickets with hypercalciuria. This gene is correlated closely with SLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of 1,25-dihydroxyvitamin D (yields the hypercalcuria).[6]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198569 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006469 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K (May 2002). "Growth-related renal type II Na/Pi cotransporter". The Journal of Biological Chemistry. 277 (22): 19665–72. doi:10.1074/jbc.M200943200. PMID 11880379.
  6. 1 2 Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (February 2006). "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3". American Journal of Human Genetics. 78 (2): 193–201. doi:10.1086/499410. PMC 1380229. PMID 16358215.
  7. ↑ Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (February 2006). "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis". American Journal of Human Genetics. 78 (2): 179–92. doi:10.1086/499409. PMC 1380228. PMID 16358214.
  8. 1 2 "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3".
  9. ↑ Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.

Further reading

  • Forster IC, Hernando N, Biber J, Murer H (November 2006). "Proximal tubular handling of phosphate: A molecular perspective". Kidney International. 70 (9): 1548–59. doi:10.1038/sj.ki.5001813. PMID 16955105.
  • Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K (2007). "Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function". Journal of Bone and Mineral Metabolism. 25 (6): 407–13. doi:10.1007/s00774-007-0776-6. PMID 17968493.
  • Ehnes C, Forster IC, Bacconi A, Kohler K, Biber J, Murer H (November 2004). "Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites". The Journal of General Physiology. 124 (5): 489–503. doi:10.1085/jgp.200409061. PMC 2234003. PMID 15504899.
  • Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.

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