SLC12A1 (solute carrier family 12 member 1)

2014-06-01  

Identity

HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
BSC1,NKCC2
FUSION GENES

Other Information

Locus ID:

NCBI: 6557
MIM: 600839
HGNC: 10910
Ensembl: ENSG00000074803

Variants:

dbSNP: 6557
ClinVar: 6557
TCGA: ENSG00000074803
COSMIC: SLC12A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000074803ENST00000330289Q8IUN5
ENSG00000074803ENST00000380993Q13621
ENSG00000074803ENST00000396577Q13621
ENSG00000074803ENST00000559641H0YLJ2
ENSG00000074803ENST00000561031H0YNW0
ENSG00000074803ENST00000561127H0YMG9
ENSG00000074803ENST00000646012A0A2R8Y6V7
ENSG00000074803ENST00000647232Q13621
ENSG00000074803ENST00000647546Q13621

Expression (GTEx)

0
50
100
150
200
250
300
350
400

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10741sulfonamides, plainChemicalPathwayassociated23788015
PA134973207OXSR1GenePathwayassociated23788015
PA40GRK2GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
183919532008Rare independent mutations in renal salt handling genes contribute to blood pressure variation.310
183919532008Rare independent mutations in renal salt handling genes contribute to blood pressure variation.310
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168320452006WNK1 and OSR1 regulate the Na+, K+, 2Cl- cotransporter in HeLa cells.71
213213282011Regulation of the NKCC2 ion cotransporter by SPAK-OSR1-dependent and -independent pathways.61
233254102013Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.44
208199792011Altered expression of regulators of the cortical chloride transporters NKCC1 and KCC2 in schizophrenia.37
190960862009Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.31
149678342004Urinary potassium excretion and sodium sensitivity in blacks.28
212090102011Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function.21

Citation

Dessen P

SLC12A1 (solute carrier family 12 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54000/slc12a1