SLC12A7 (solute carrier family 12 member 7)

2007-02-01  

Identity

HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
KCC4
FUSION GENES

Other Information

Locus ID:

NCBI: 10723
MIM: 604879
HGNC: 10915
Ensembl: ENSG00000113504

Variants:

dbSNP: 10723
ClinVar: 10723
TCGA: ENSG00000113504
COSMIC: SLC12A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113504ENST00000264930Q9Y666
ENSG00000113504ENST00000504576A0A0U1RR10
ENSG00000113504ENST00000513223H0YB78
ENSG00000113504ENST00000634447A0A0U1RR18

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
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
310348832019Insulin-Like Growth Factor and SLC12A7 Dysregulation: A Novel Signaling Hallmark of Non-Functional Adrenocortical Carcinoma.7
313930942019SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.14
310348832019Insulin-Like Growth Factor and SLC12A7 Dysregulation: A Novel Signaling Hallmark of Non-Functional Adrenocortical Carcinoma.7
313930942019SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.14
298842382018SLC12A7 alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior.13
298842382018SLC12A7 alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior.13
264546762016DNA copy amplification and overexpression of SLC12A7 in adrenocortical carcinoma.8
264546762016DNA copy amplification and overexpression of SLC12A7 in adrenocortical carcinoma.8
216136062011Similar effects of all WNK3 variants on SLC12 cotransporters.14
217338502011K-Cl cotransporter gene expression during human and murine erythroid differentiation.15
217609192011Frog oocytes to unveil the structure and supramolecular organization of human transport proteins.13
216136062011Similar effects of all WNK3 variants on SLC12 cotransporters.14
217338502011K-Cl cotransporter gene expression during human and murine erythroid differentiation.15
217609192011Frog oocytes to unveil the structure and supramolecular organization of human transport proteins.13
205160682010Differences in the large extracellular loop between the K(+)-Cl(-) cotransporters KCC2 and KCC4.22

Citation

Dessen P

SLC12A7 (solute carrier family 12 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46549/slc12a7