Version 5.4
Homo sapiens Gene: SLC12A3
Summary
InnateDB Gene IDBG-32527.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC12A3
Gene Name solute carrier family 12 (sodium/chloride transporters), member 3
Synonyms NCC; NCCT; TSC
Species Homo sapiens
Ensembl Gene ENSG00000070915
Encoded Proteins
IDBP-32529
solute carrier family 12 (sodium/chloride transporters), member 3
IDBP-377448
solute carrier family 12 (sodium/chloride transporters), member 3
IDBP-745879
IDBP-749696
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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 syndrome, a disease similar to Bartter\'s syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:56865207-56915850
Strand Forward strand
Band q13
Transcripts
ENST00000262502 ENSP00000262502
ENST00000438926 ENSP00000402152
ENST00000563352
ENST00000566786 ENSP00000457552
ENST00000569002
ENST00000563236 ENSP00000456149
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0015377 cation:chloride symporter activity
GO:0015378 sodium:chloride symporter activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006821 chloride transport
GO:0035725 sodium ion transmembrane transport
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031766
View Gene Order
ENSBTAG00000006630
Not yet available
Pathways
NETPATH
REACTOME
REACT_19315
Cation-coupled Chloride cotransporters pathway
REACT_19397
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_19118
SLC-mediated transmembrane transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.669115
RefSeq NM_000339 NM_001126107 NM_001126108 XM_005256119
HUGO
OMIM
CCDS CCDS10770 CCDS45491 CCDS58464
HPRD 02984
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca