Homo sapiens Gene: SLC12A6

Summary
InnateDB Gene IDBG-5416.5
Last Modified 2012-02-14   [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
IDBP-5418 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-5420 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-234669 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-234671 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-364472 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-364483 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-599537 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-585338 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-602617 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-591238 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-603278 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-594637 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-585040 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-594345 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-600412 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-593416 solute carrier family 12 (potassium/chloride transporters), member 6
IDBP-603816 solute carrier family 12 (potassium/chloride transporters), member 6
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15: 34525460-34630261
Strand Reverse strand
Band q14
Transcripts
ENST00000354181  ENSP00000346112
ENST00000290209  ENSP00000290209
ENST00000397707  ENSP00000380819
ENST00000397702  ENSP00000380814
ENST00000458406  ENSP00000387725
ENST00000451844  ENSP00000390199
ENST00000560611  ENSP00000454168
ENST00000559523  ENSP00000452904
ENST00000559664  ENSP00000453702
ENST00000560164  ENSP00000452705
ENST00000561080  ENSP00000454069
ENST00000558667  ENSP00000453473
ENST00000558589  ENSP00000452776
ENST00000559076 
ENST00000559441 
ENST00000558950 
ENST00000560023 
ENST00000560332  ENSP00000454037
ENST00000561120  ENSP00000452771
ENST00000559236  ENSP00000452828
ENST00000559484  ENSP00000452857
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 3 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein‑Protein  2
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005215 transporter activity
GO:0015377 cation:chloride symporter activity
GO:0015379 potassium:chloride symporter activity
Biological Process
GO:0001525 angiogenesis
GO:0006810 transport
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0055085 transmembrane transport
GO:0071477 cellular hypotonic salinity response
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral to membrane
GO:0016323 basolateral plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000027130 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000016236 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_19315 Cation-coupled Chloride cotransporters
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UHW9 
TrEMBL B3KXX3 H0YKE6 H0YKJ2 H0YKL8 H0YKQ8 H0YMQ9 H0YNJ5
UniProt Splice Variant
Entrez Gene 9990 
UniGene Hs.510939
RefSeq NM_001042494  NM_001042495  NM_001042496  NM_001042497  NM_005135  NM_133647 
HUGO 10914 
OMIM 604878
CCDS CCDS10036  CCDS42010  CCDS42011  CCDS42012 
HPRD 09220
IMGT
EMBL AC021822 AC079203 AF105366 AF108831 AF116242 AF314931 AF314932 AF314933 AF314934 AF314935 AF314936 AF314937 AF314938 AF314939 AF314940 AF314941 AF314942 AF314943 AF314944 AF314945 AF314946 AF314947 AF314948 AF314949 AF314950 AF314951 AF314952 AF314953 AF314954 AF314955 AF314956 AF477977 AF531258 AF531259 AF531260 AK128133 AK315283 AL117500 BC126241 BC126243 CH471125 DQ138323
GenPept AAD25337  AAD39742  AAF24986  AAI26242  AAI26244  AAL85335  AAM96215  AAM96216  AAQ10026  AAQ10027  AAQ10028  ABA02873  BAG37692  BAG54635  CAB55965  EAW92295  EAW92297  EAW92298  EAW92301 
ImmGen SLC12A6 (murine) 
RNA Seq Atlas 9990