SLC12A4 (solute carrier family 12 member 4)

2007-02-01  

Identity

HGNC
SLC12A4
LOCATION
16q22.1
LOCUSID
6560
ALIAS
CTC-479C5.17,KCC1,hKCC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124067ENST00000316341Q9UP95
ENSG00000124067ENST00000422611Q9UP95
ENSG00000124067ENST00000537830Q9UP95
ENSG00000124067ENST00000541864Q9UP95
ENSG00000124067ENST00000570616J3QKM4
ENSG00000124067ENST00000571299J3QRE2
ENSG00000124067ENST00000572037I3L4N6
ENSG00000124067ENST00000575857J3QSF2
ENSG00000124067ENST00000576377I3L1N8
ENSG00000124067ENST00000576616Q9UP95

Expression (GTEx)

0
50
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
357596612022Structure of the human cation-chloride cotransport KCC1 in an outward-open state.9
357596612022Structure of the human cation-chloride cotransport KCC1 in an outward-open state.9
312962302019K(+)-Cl(-) cotransporter 1 (KCC1): a housekeeping membrane protein that plays key supplemental roles in hematopoietic and cancer cells.10
312962302019K(+)-Cl(-) cotransporter 1 (KCC1): a housekeeping membrane protein that plays key supplemental roles in hematopoietic and cancer cells.10
280932422017The Zn(2+)-sensing receptor, ZnR/GPR39, upregulates colonocytic Cl(-) absorption, via basolateral KCC1, and reduces fluid loss.15
280932422017The Zn(2+)-sensing receptor, ZnR/GPR39, upregulates colonocytic Cl(-) absorption, via basolateral KCC1, and reduces fluid loss.15
216136062011Similar effects of all WNK3 variants on SLC12 cotransporters.14
216664892011KCC1 gene advances cell invasion ability by regulating ERK signaling pathway in endometrial cancer HEC-1B cell line.1
217338502011K-Cl cotransporter gene expression during human and murine erythroid differentiation.15
216136062011Similar effects of all WNK3 variants on SLC12 cotransporters.14
216664892011KCC1 gene advances cell invasion ability by regulating ERK signaling pathway in endometrial cancer HEC-1B cell line.1
217338502011K-Cl cotransporter gene expression during human and murine erythroid differentiation.15
206026152010Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?3
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206026152010Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?3

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/css/welcome