SLC12A2 (solute carrier family 12 member 2)

2007-02-01  

Identity

HGNC
SLC12A2
LOCATION
5q23.3
LOCUSID
6558
ALIAS
BSC,BSC2,KILQS,NKCC1,PPP1R141
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6558
MIM: 600840
HGNC: 10911
Ensembl: ENSG00000064651

Variants:

dbSNP: 6558
ClinVar: 6558
TCGA: ENSG00000064651
COSMIC: SLC12A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064651ENST00000262461P55011
ENSG00000064651ENST00000262461Q53ZR1
ENSG00000064651ENST00000343225P55011
ENSG00000064651ENST00000509205G3XAL9
ENSG00000064651ENST00000628403G3XAL9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Vibrio cholerae infectionKEGGko05110
Vibrio cholerae infectionKEGGhsa05110
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
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
162279932005NKCC1 transporter facilitates seizures in the developing brain.310
190231252009A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.104
127403792003PASK (proline-alanine-rich STE20-related kinase), a regulatory kinase of the Na-K-Cl cotransporter (NKCC1).93
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
225705912012Regulation of brain tumor dispersal by NKCC1 through a novel role in focal adhesion regulation.56
208199792011Altered expression of regulators of the cortical chloride transporters NKCC1 and KCC2 in schizophrenia.37
208199472010Cotransport of water by the Na+-K+-2Cl(-) cotransporter NKCC1 in mammalian epithelial cells.34
174785392007Dynamic and differential regulation of NKCC1 by calcium and cAMP in the native human colonic epithelium.28
195231482009Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.23

Citation

Dessen P

SLC12A2 (solute carrier family 12 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46190/slc12a2