Bos taurus Gene: BT.27296 | |||||||||||||
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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
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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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome 18:24996725-25036121 | ||||||||||||
Strand | Forward strand | ||||||||||||
Band | |||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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
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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 | ||||||||||||