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
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; ; kidney tubule; ; glomerulus; ; renal medulla; ; pancreatic ductal cell; ; lymph node; ; spleen; ; monocyte; ; appendix; ; thymus;
	Top expressed in
	kidney; ; distal tubule; ; renal cortex; ; proximal tubule; ; bone marrow; ; metanephros; ; superior frontal gyrus; ; gland; ; endocrine gland; ; blastocyst;
	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.

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. Over a hundred different mutations in the NCC gene have been identified.

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