Homo sapiens Gene: SLC12A6 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-5416.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | SLC12A6 | ||||||||||||||||||||||
Gene Name | solute carrier family 12 (potassium/chloride transporters), member 6 | ||||||||||||||||||||||
Synonyms | ACCPN; KCC3; KCC3A; KCC3B | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000140199 | ||||||||||||||||||||||
Encoded Proteins |
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 15:34229996-34338060 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q14 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 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
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
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
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KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | H0YKJ2 H0YKL8 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 9990 | ||||||||||||||||||||||
UniGene | Hs.510939 | ||||||||||||||||||||||
RefSeq | NM_001042494 NM_001042495 NM_001042496 NM_001042497 NM_005135 NM_133647 XM_006720793 | ||||||||||||||||||||||
HUGO | HGNC:10914 | ||||||||||||||||||||||
OMIM | 604878 | ||||||||||||||||||||||
CCDS | CCDS10036 CCDS42010 CCDS42011 CCDS42012 CCDS58352 | ||||||||||||||||||||||
HPRD | 09220 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC021822 AC079203 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 9990 | ||||||||||||||||||||||