Version 5.4
Mus musculus Gene: Slc12a3
Summary
InnateDB Gene IDBG-181847.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Slc12a3
Gene Name solute carrier family 12, member 3
Synonyms AI035291; NCC; NCCT; TSC
Species Mus musculus
Ensembl Gene ENSMUSG00000031766
Encoded Proteins
IDBP-181849
solute carrier family 12, member 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000070915:
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 8:94329192-94366213
Strand Forward strand
Band C5
Transcripts
ENSMUST00000034218 ENSMUSP00000034218
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0015377 cation:chloride symporter activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000070915
View Gene Order
ENSBTAG00000006630
Not yet available
Pathways
NETPATH
REACTOME
REACT_247550
SLC-mediated transmembrane transport pathway
REACT_251788
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
REACT_253400
Transmembrane transport of small molecules pathway
REACT_247880
Cation-coupled Chloride cotransporters pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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 P59158
TrEMBL Q543E4
UniProt Splice Variant
Entrez Gene 20497
UniGene Mm.25804
RefSeq NM_001205311 NM_019415 XM_006530790 XM_006530791
OMIM
CCDS CCDS57632
HPRD
IMGT
MGI ID MGI:108114
MGI Symbol Slc12a3
EMBL AK052691 BC038612
GenPept AAH38612 BAC35098
RNA Seq Atlas 20497

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