SLC12A1 (solute carrier family 12 member 1)

2014-06-01  

Identity

HGNC
SLC12A1
LOCATION
15q21.1
LOCUSID
6557
ALIAS
BSC1,NKCC2
FUSION GENES
Show Gene Fusions

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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10741sulfonamides, plainChemicalPathwayassociated23788015
PA134973207OXSR1GenePathwayassociated23788015
PA40GRK2GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
379688002024From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters.0
384743532024AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.1
379688002024From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters.0
384743532024AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.1
370744532023Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.0
380032932023Association of SLC12A1 and GLUR4 Ion Transporters with Neoadjuvant Chemoresistance in Luminal Locally Advanced Breast Cancer.0
370744532023Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.0
380032932023Association of SLC12A1 and GLUR4 Ion Transporters with Neoadjuvant Chemoresistance in Luminal Locally Advanced Breast Cancer.0
350902302022[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].0
353584702022Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.2
363615532022Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2.2
350902302022[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].0
353584702022Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.2
363615532022Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2.2
336722382021Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2.7

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-(solute-carrier-family-12-member-1)