SLC12A4 (solute carrier family 12 member 4)

2007-02-01 Affiliation

Identity

HGNC

SLC12A4

LOCATION

16q22.1

LOCUSID

6560

ALIAS

CTC-479C5.17,KCC1,hKCC1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6560
MIM: 604119
HGNC: 10913
Ensembl: ENSG00000124067

Variants:

dbSNP: 6560
ClinVar: 6560
TCGA: ENSG00000124067
COSMIC: SLC12A4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124067	ENST00000316341	Q9UP95
ENSG00000124067	ENST00000422611	Q9UP95
ENSG00000124067	ENST00000537830	Q9UP95
ENSG00000124067	ENST00000541864	Q9UP95
ENSG00000124067	ENST00000570616	J3QKM4
ENSG00000124067	ENST00000571299	J3QRE2
ENSG00000124067	ENST00000572037	I3L4N6
ENSG00000124067	ENST00000575857	J3QSF2
ENSG00000124067	ENST00000576377	I3L1N8
ENSG00000124067	ENST00000576616	Q9UP95

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptides	REACTOME	R-HSA-425393
Cation-coupled Chloride cotransporters	REACTOME	R-HSA-426117

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
15262997	2004	Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells.	24
12902337	2003	KCl cotransport is an important modulator of human cervical cancer growth and invasion.	22
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
21613606	2011	Similar effects of all WNK3 variants on SLC12 cotransporters.	11
21733850	2011	K-Cl cotransporter gene expression during human and murine erythroid differentiation.	8
28093242	2017	The Zn<sup>2+</sup>-sensing receptor, ZnR/GPR39, upregulates colonocytic Cl<sup>-</sup> absorption, via basolateral KCC1, and reduces fluid loss.	5
12637262	2003	Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblasts.	4
14976052	2004	Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter element.	4
15039017	2004	Oxygen dependence of K(+)-Cl- cotransport in human red cell ghosts and sickle cells.	4

Citation

Dessen P

SLC12A4 (solute carrier family 12 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45800/slc12a4