SLC12A3 (solute carrier family 12 member 3)

2007-02-01  

Identity

HGNC
SLC12A3
LOCATION
16q13
LOCUSID
6559
ALIAS
NCC,NCCT,TSC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6559
MIM: 600968
HGNC: 10912
Ensembl: ENSG00000070915

Variants:

dbSNP: 6559
ClinVar: 6559
TCGA: ENSG00000070915
COSMIC: SLC12A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070915ENST00000262502J3QSS1
ENSG00000070915ENST00000438926P55017
ENSG00000070915ENST00000563236P55017
ENSG00000070915ENST00000566786P55017

Expression (GTEx)

0
10
20
30
40
50
60
70
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
PA134875400WNK4GenePathwayassociated23788015
PA164713347Thiazides, plainChemicalClinicalAnnotation, PathwayassociatedPD15824464, 23788015
PA31534NEDD4LGenePathwayassociated23788015
PA33784WNK3GenePathwayassociated23788015
PA38243STK39GenePathwayassociated23788015
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD15824464
PA448682bumetanideChemicalClinicalAnnotationassociatedPD17460608, 20877298
PA449719furosemideChemicalClinicalAnnotationassociatedPD17460608, 20877298
PA451733torasemideChemicalClinicalAnnotationassociatedPD17460608, 20877298

References

Pubmed IDYearTitleCitations
379688002024From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters.0
379688002024From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters.0
365626552023Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.0
365975802023Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.2
367928262023Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter.6
369252042023Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.4
376570062023Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.0
377023022023Spectrum of variants in a large Chinese Gitelman syndrome cohort.0
365626552023Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.0
365975802023Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.2
367928262023Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter.6
369252042023Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.4
376570062023Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.0
377023022023Spectrum of variants in a large Chinese Gitelman syndrome cohort.0
356272492022RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas.1

Citation

Dessen P

SLC12A3 (solute carrier family 12 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46538/slc12a3-(solute-carrier-family-12-member-3)