SLC12A5 (solute carrier family 12 member 5)

2012-06-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
DEE34,EIEE34,EIG14,KCC2,hKCC2
FUSION GENES

Other Information

Locus ID:

NCBI: 57468
MIM: 606726
HGNC: 13818
Ensembl: ENSG00000124140

Variants:

dbSNP: 57468
ClinVar: 57468
TCGA: ENSG00000124140
COSMIC: SLC12A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124140ENST00000243964Q9H2X9
ENSG00000124140ENST00000413737A0A0D9SGA5
ENSG00000124140ENST00000454036Q9H2X9
ENSG00000124140ENST00000539566B7Z3T3
ENSG00000124140ENST00000608944V9GYL3
ENSG00000124140ENST00000616201A0A087X201
ENSG00000124140ENST00000616202M4PM71
ENSG00000124140ENST00000616933M4PNB5
ENSG00000124140ENST00000626701A0A0D9SGD0
ENSG00000124140ENST00000626937M4PNC0
ENSG00000124140ENST00000627290A0A0D9SGF9
ENSG00000124140ENST00000628272A0A0D9SF89
ENSG00000124140ENST00000637437A0A1B0GVB1

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
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
155282362005Two developmental switches in GABAergic signalling: the K+-Cl- cotransporter KCC2 and carbonic anhydrase CAVII.124
176934022007Direct protein kinase C-dependent phosphorylation regulates the cell surface stability and activity of the potassium chloride cotransporter KCC2.103
163241142005Slow endogenous activity transients and developmental expression of K+-Cl- cotransporter 2 in the immature human cortex.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
267336782016KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome.54
177151292007A novel N-terminal isoform of the neuron-specific K-Cl cotransporter KCC2.50
159326172005KCC2 expression in immature rat cortical neurons is sufficient to switch the polarity of GABA responses.47
246682622014A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.47
246990642014Discovery of biclonal origin and a novel oncogene SLC12A5 in colon cancer by single-cell sequencing.46
249289082014Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.46

Citation

Dessen P

SLC12A5 (solute carrier family 12 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52751/slc12a5