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Gene: SLC12A6 (solute carrier family 12 member 6) Homo sapiens
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Symbol: SLC12A6
Name: solute carrier family 12 member 6
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACCPN; DKFZp434D2135; electroneutral potassium-chloride cotransporter 3; K-Cl cotransporter 3; KCC3; KCC3A; KCC3B; potassium chloride cotransporter 3; potassium chloride cotransporter KCC3a-S3; potassium-chloride transporter-3a; potassium-chloride transporter-3b; solute carrier family 12 (potassium/chloride transporter), member 6; solute carrier family 12 (potassium/chloride transporters), member 6
Orthologs:
Mus musculus (house mouse) : Slc12a6 (solute carrier family 12, member 6)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc12a6 (solute carrier family 12, member 6)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc12a6 (solute carrier family 12 member 6)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC12A6 (solute carrier family 12 member 6)
Canis lupus familiaris (dog) : SLC12A6 (solute carrier family 12 member 6)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc12a6 (solute carrier family 12 member 6)
Sus scrofa (pig) : SLC12A6 (solute carrier family 12 member 6)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381534,229,784 - 34,338,057 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371534,522,197 - 34,630,265 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361532,309,489 - 32,417,557 (-)NCBINCBI36hg18NCBI36
Build 341532,312,957 - 32,398,222NCBI
Celera1511,324,764 - 11,432,905 (-)NCBI
Cytogenetic Map15q14NCBI
HuRef1511,385,680 - 11,493,609 (-)NCBIHuRef
CHM1_11534,640,225 - 34,748,321 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC12A6
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1322734
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.