Sodium-dependent phosphate transport protein 2C

SLC34A3
Identifiers
Aliases	SLC34A3, HHRH, NPTIIc, solute carrier family 34 member 3, NaP2b
External IDs	OMIM: 609826; MGI: 2159410; GeneCards: SLC34A3
Gene location (Human)
Chr.	Chromosome 9 (human)
End	137,236,555 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	25,124,376 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; sural nerve; ; pituitary gland; ; anterior pituitary; ; endothelial cell; ; human kidney; ; skin of hip; ; olfactory zone of nasal mucosa; ; gastric mucosa; ; right frontal lobe;
	Top expressed in
	right kidney; ; human kidney; ; embryo; ; lumbar subsegment of spinal cord; ; yolk sac; ; epithelium of small intestine; ; embryo; ; ileum; ; otic vesicle; ; stria vascularis;
	More reference expression data
	n/a
Gene ontology
Molecular function	symporter activity; sodium:phosphate symporter activity;
Cellular component	integral component of membrane; plasma membrane; membrane; vesicle; cytoplasm; brush border; apical plasma membrane; brush border membrane;
Biological process	phosphate ion transport; cellular phosphate ion homeostasis; sodium ion transmembrane transport; sodium-dependent phosphate transport; sodium ion transport; transmembrane transport; ion transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	142680
	142681
	ENSG00000198569
	ENSMUSG00000006469
	Q8N130
	Q80SU6
	NM_001177316; NM_001177317; NM_080877
	NM_080854; NM_001362748
	NP_001170787; NP_001170788; NP_543153
	NP_543130; NP_001349677
	Wikidata
View/Edit Human	View/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 hypophosphatemic 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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198569 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006469 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
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.
↑ 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.
1 2 "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3".
↑ 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.

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. S2CID 20210798.
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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198569 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006469 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11880379-5] 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.

[pmid16358215-6] 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.

[pmid16358214-7] 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.

[entrez-8] 1 2 "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3".

[pmid14531806-9] 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.

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Sodium-dependent phosphate transport protein 2C

Function

Interactions

Clinical Correlation

See also

References

Further reading