Sodium-chloride symporter

SLC12A3
Identifiers
Aliases	SLC12A3, NCC, NCCT, TSC, solute carrier family 12 member 3, Sodium-chloride symporter
External IDs	OMIM: 600968; MGI: 108114; HomoloGene: 287; GeneCards: SLC12A3; OMA:SLC12A3 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	56,915,850 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	95,092,842 bp
RNA expression pattern
	Top expressed in
	kidney tubule; ; human kidney; ; buccal mucosa cell; ; glomerulus; ; renal medulla; ; pancreatic ductal cell; ; granulocyte; ; lymph node; ; mononuclear cell; ; spleen;
	Top expressed in
	right kidney; ; human kidney; ; distal tubule; ; renal cortex; ; primary visual cortex; ; granulocyte; ; proximal tubule; ; bone marrow; ; metanephros; ; muscle of thigh;
	More reference expression data
	n/a
Gene ontology
Molecular function	cation:chloride symporter activity; protein binding; symporter activity; transporter activity; sodium:chloride symporter activity; sodium:potassium:chloride symporter activity; sodium ion transmembrane transporter activity; potassium:chloride symporter activity;
Cellular component	integral component of membrane; cytosol; plasma membrane; integral component of plasma membrane; extracellular exosome; apical plasma membrane; membrane;
Biological process	chloride transmembrane transport; ion transport; sodium ion transmembrane transport; sodium ion transport; transmembrane transport; chloride transport; transport; cell volume homeostasis; chloride ion homeostasis; potassium ion homeostasis; sodium ion homeostasis; potassium ion import across plasma membrane;
	Sources:Amigo / QuickGO
Orthologs
	6559
	20497
	ENSG00000070915
	ENSMUSG00000031766
	P55017
	P59158
	NM_000339; NM_001126107; NM_001126108
	NM_001205311; NM_019415
	NP_000330; NP_001119579; NP_001119580
	NP_001192240; NP_062288
	Wikidata
View/Edit Human	View/Edit Mouse

The sodium-chloride symporter (also known as Na⁺-Cl⁻ cotransporter, NCC or NCCT, or as the thiazide-sensitive Na⁺-Cl⁻ cotransporter or TSC) is a cotransporter in the kidney which has the function of reabsorbing sodium and chloride ions from the tubular fluid into the cells of the distal convoluted tubule of the nephron. It is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporters. In humans, it is encoded by the SLC12A3 gene (solute carrier family 12 member 3) located in 16q13.^[5]

A loss of NCC function causes Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and low blood pressure, hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.^[6] Over a hundred different mutations in the NCC gene have been identified.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000070915 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031766 – 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.
^ Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (August 1996). "Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)". Genomics. 35 (3): 486–93. doi:10.1006/geno.1996.0388. PMID 8812482.
^ Knoers NV, Levtchenko EN (2008). "Gitelman syndrome". Orphanet J Rare Dis. 3: 22. doi:10.1186/1750-1172-3-22. PMC 2518128. PMID 18667063.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000070915 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031766 – 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.

[pmid8812482-5] Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (August 1996). "Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)". Genomics. 35 (3): 486–93. doi:10.1006/geno.1996.0388. PMID 8812482.

[pmid18667063-6] Knoers NV, Levtchenko EN (2008). "Gitelman syndrome". Orphanet J Rare Dis. 3: 22. doi:10.1186/1750-1172-3-22. PMC 2518128. PMID 18667063.

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