SLC12A6 (solute carrier family 12 member 6)

2007-02-01  

Identity

HGNC
LOCATION
15q14
LOCUSID
ALIAS
ACCPN,KCC3,KCC3A,KCC3B
FUSION GENES

Other Information

Locus ID:

NCBI: 9990
MIM: 604878
HGNC: 10914
Ensembl: ENSG00000140199

Variants:

dbSNP: 9990
ClinVar: 9990
TCGA: ENSG00000140199
COSMIC: SLC12A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140199ENST00000290209Q9UHW9
ENSG00000140199ENST00000354181Q9UHW9
ENSG00000140199ENST00000354181A0A024R9I5
ENSG00000140199ENST00000397702Q9UHW9
ENSG00000140199ENST00000397702A0A024R9K8
ENSG00000140199ENST00000397707Q9UHW9
ENSG00000140199ENST00000458406Q9UHW9
ENSG00000140199ENST00000458406A0A024R9K8
ENSG00000140199ENST00000558589Q9UHW9
ENSG00000140199ENST00000558667Q9UHW9
ENSG00000140199ENST00000558667A0A024R9I5
ENSG00000140199ENST00000559236H0YKJ2
ENSG00000140199ENST00000559484H0YKL8
ENSG00000140199ENST00000559523H0YKQ8
ENSG00000140199ENST00000559664H0YMQ9
ENSG00000140199ENST00000560164B3KXX3
ENSG00000140199ENST00000560332H0YNJ5
ENSG00000140199ENST00000560611Q9UHW9
ENSG00000140199ENST00000560611A0A024R9I5
ENSG00000140199ENST00000561080H0YMQ9
ENSG00000140199ENST00000561120H0YKE6

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Cation-coupled Chloride cotransportersREACTOMER-HSA-426117

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
196659742009Sites of regulated phosphorylation that control K-Cl cotransporter activity.110
152629972004Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells.24
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
180068532007KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.18
126575612003Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters.17
166069172006Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.17
185367022009Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site.15
224231072012Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.14
171333542007IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness.13
274850152016Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.13

Citation

Dessen P

SLC12A6 (solute carrier family 12 member 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43655/slc12a6