• Gene id: 6559

Gene Summary

• Gene Symbol: SLC12A3   Gene   UCSC   Ensembl
• Aliases: NCC, NCCT, TSC
• Gene name: solute carrier family 12 member 3
• Alternate names: solute carrier family 12 member 3, Na-Cl cotransporter, Na-Cl symporter, NaCl electroneutral thiazide-sensitive cotransporter, solute carrier family 12 (sodium/chloride transporter), member 3, thiazide-sensitive Na-Cl cotransporter, thiazide-sensitive sodium-ch,
• Gene location: 16q13 (56865206: 56915849)     Exons: 26     NC_000016.10
• Gene summary(Entrez): This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman s
• OMIM: 600751

Protein Summary

• Protein general information: P55017  
  • Name: Solute carrier family 12 member 3 (Na Cl cotransporter) (NCC) (Na Cl symporter) (Thiazide sensitive sodium chloride cotransporter)
  • Length: 1021  
  • Mass: 113139
  • Tissue specificity: Predominantly expressed in kidney (PubMed
• Sequence:

  MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNTIDVVPTYEHYANSTQ
  PGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEGEAGTSSEKNPEEPVRFGWVKGVMIRCMLNI
  WGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAF
  ANAVGVAMHTVGFAETVRDLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
  LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGT
  LMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLACSYGWNFTECTQQHSCHYGLINYYQTMSMV
  SGFAPLITAGIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAEL
  NTIAPIISNFFLCSYALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
  LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVDFVGTFTRNLSLMICG
  HVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMKPNILVVGFKKNWQSAH
  PATVEDYIGILHDAFDFNYGVCVMRMREGLNVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSE
  QGKKTIDIYWLFDDGGLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
  QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLNEIVLDYSRDAALIVI
  TLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ

• Structural information:
  • Interpro: IPR004841  IPR013612  IPR018491  IPR002948  IPR004842  
  • STRING: ENSP00000402152
• Other Databases: GeneCards:  SLC12A3  Malacards:  SLC12A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008511	sodium:potassium:chloride symporter activity	IBA	molecular function
GO:0015378	sodium:chloride symporter activity	IBA	molecular function
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0055078	sodium ion homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0006884	cell volume homeostasis	IBA	biological process
GO:0015081	sodium ion transmembrane transporter activity	IBA	molecular function
GO:0015379	potassium:chloride symporter activity	IBA	molecular function
GO:0035725	sodium ion transmembrane transport	IBA	biological process
GO:0055064	chloride ion homeostasis	IBA	biological process
GO:0055075	potassium ion homeostasis	IBA	biological process
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0015377	cation:chloride symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015378	sodium:chloride symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0015378	sodium:chloride symporter activity	TAS	molecular function
GO:0015081	sodium ion transmembrane transporter activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0015081	sodium ion transmembrane transporter activity	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006814	sodium ion transport	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component

Diseases

Associated diseases	References
Gitelman syndrome	KEGG:H00240
Gitelman syndrome	KEGG:H00240
Gitelman syndrome	PMID:16221718
Essential hypertension	PMID:15480096
Essential hypertension	PMID:15824464
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq