Bos taurus Gene: BT.27296
Summary
InnateDB Gene IDBG-632127.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.27296
Gene Name solute carrier family 12 member 3
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000006630
Encoded Proteins
Uncharacterized protein
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 18:24996725-25036121
Strand Forward strand
Band
Transcripts
ENSBTAT00000008705 ENSBTAP00000008705
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Predicted by orthology
Total 9 [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:0006821 chloride 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
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Cation-coupled Chloride cotransporters pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
Transmembrane transport of small molecules pathway
SLC-mediated transmembrane transport pathway
SLC-mediated transmembrane transport pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
Transmembrane transport of small molecules pathway
Cation-coupled Chloride cotransporters pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL F1MD59 O97740
UniProt Splice Variant
Entrez Gene 404171
UniGene Bt.27296
RefSeq NM_001206178 XM_005218464 XM_005218465
HUGO HGNC:10912
OMIM
CCDS
HPRD
IMGT
EMBL AJ131765 DAAA02046504
GenPept CAA10509
RNA Seq Atlas 404171