Details for: SLC12A3

Gene ID: 6559

Symbol: SLC12A3

Ensembl ID: ENSG00000070915

Description: solute carrier family 12 member 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 3.8398
    Cell Significance Index: 93.0100
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 3.0687
    Cell Significance Index: 11.7500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 2.1513
    Cell Significance Index: 4.8500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.8558
    Cell Significance Index: 13.2400
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.6063
    Cell Significance Index: 6.2800
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.4136
    Cell Significance Index: 1.4200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.3134
    Cell Significance Index: 4.5500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1546
    Cell Significance Index: 2.6500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1164
    Cell Significance Index: 80.5200
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.1027
    Cell Significance Index: 1.3700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0916
    Cell Significance Index: 2.6200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0914
    Cell Significance Index: 18.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0654
    Cell Significance Index: 13.1300
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0386
    Cell Significance Index: 0.3000
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.0383
    Cell Significance Index: 0.4500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0240
    Cell Significance Index: 8.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0175
    Cell Significance Index: 0.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0151
    Cell Significance Index: 0.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0121
    Cell Significance Index: 2.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0114
    Cell Significance Index: 0.5100
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.0086
    Cell Significance Index: 0.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0050
    Cell Significance Index: 3.6500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0008
    Cell Significance Index: 1.5700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0008
    Cell Significance Index: 0.0200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0002
    Cell Significance Index: 0.0400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0009
    Cell Significance Index: -1.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0012
    Cell Significance Index: -1.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0016
    Cell Significance Index: -2.1500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0046
    Cell Significance Index: -2.5200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0048
    Cell Significance Index: -3.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0050
    Cell Significance Index: -3.6800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0050
    Cell Significance Index: -0.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0062
    Cell Significance Index: -3.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0067
    Cell Significance Index: -3.0400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0071
    Cell Significance Index: -0.3100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0073
    Cell Significance Index: -2.1000
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.0088
    Cell Significance Index: -0.0800
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: -0.0111
    Cell Significance Index: -0.1200
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0122
    Cell Significance Index: -0.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0123
    Cell Significance Index: -0.8300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0132
    Cell Significance Index: -1.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0134
    Cell Significance Index: -1.9500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0154
    Cell Significance Index: -0.2200
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0155
    Cell Significance Index: -0.1400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0162
    Cell Significance Index: -2.2300
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0167
    Cell Significance Index: -0.2200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0179
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0183
    Cell Significance Index: -3.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0259
    Cell Significance Index: -2.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0280
    Cell Significance Index: -3.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0284
    Cell Significance Index: -2.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0287
    Cell Significance Index: -2.9300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0295
    Cell Significance Index: -0.7900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0321
    Cell Significance Index: -3.7400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0348
    Cell Significance Index: -0.6800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0374
    Cell Significance Index: -0.2500
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0388
    Cell Significance Index: -0.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0405
    Cell Significance Index: -1.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0432
    Cell Significance Index: -3.4200
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: -0.0441
    Cell Significance Index: -0.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0447
    Cell Significance Index: -1.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0468
    Cell Significance Index: -1.4900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0485
    Cell Significance Index: -2.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0488
    Cell Significance Index: -1.2600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0525
    Cell Significance Index: -1.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0533
    Cell Significance Index: -3.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0599
    Cell Significance Index: -3.6800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0614
    Cell Significance Index: -3.2000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0622
    Cell Significance Index: -1.3200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0648
    Cell Significance Index: -3.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0648
    Cell Significance Index: -3.9700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0693
    Cell Significance Index: -1.4500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0713
    Cell Significance Index: -1.4800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0760
    Cell Significance Index: -2.0700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0777
    Cell Significance Index: -1.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0777
    Cell Significance Index: -3.6300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0780
    Cell Significance Index: -0.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0784
    Cell Significance Index: -2.2600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0806
    Cell Significance Index: -1.1900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0814
    Cell Significance Index: -2.0300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0819
    Cell Significance Index: -1.7700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0819
    Cell Significance Index: -1.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0845
    Cell Significance Index: -2.9700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0873
    Cell Significance Index: -2.3400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0896
    Cell Significance Index: -2.6400
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.0952
    Cell Significance Index: -1.0500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0953
    Cell Significance Index: -1.9900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0976
    Cell Significance Index: -1.9600
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0984
    Cell Significance Index: -2.0000
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1040
    Cell Significance Index: -1.4800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1043
    Cell Significance Index: -3.3000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1096
    Cell Significance Index: -1.8900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1105
    Cell Significance Index: -2.9500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1123
    Cell Significance Index: -2.7400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1130
    Cell Significance Index: -1.6900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1158
    Cell Significance Index: -2.2800
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1169
    Cell Significance Index: -2.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1190
    Cell Significance Index: -3.1300
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1214
    Cell Significance Index: -1.5900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transmembrane Protein:** SLC12A3 is a transmembrane protein belonging to the solute carrier family 12, which is characterized by its ability to transport ions and small molecules across cell membranes. 2. **NCC Function:** NCC (NCC for sodium-chloride cotransporter) is responsible for the reabsorption of sodium ions and the secretion of chloride ions in the distal convoluted tubule of the kidney. 3. **Ion Homeostasis:** NCC plays a critical role in maintaining ion homeostasis by regulating the balance of sodium, chloride, and potassium ions in the body. 4. **Gitelman Syndrome:** Mutations in the SLC12A3 gene have been identified as the primary cause of Gitelman syndrome, a disorder characterized by hypokalemia, hypomagnesemia, and metabolic alkalosis. **Pathways and Functions:** 1. **Apical Plasma Membrane:** NCC is primarily localized to the apical plasma membrane of the distal convoluted tubule epithelial cells, where it plays a critical role in regulating sodium and chloride ion transport. 2. **Atp Binding:** NCC binds ATP, which is necessary for the transport of sodium and chloride ions across the membrane. 3. **Cation-Coupled Chloride Cotransporters:** NCC is part of a larger family of cation-coupled chloride cotransporters that regulate the transport of sodium, potassium, and chloride ions in various tissues. 4. **Cell Volume Homeostasis:** NCC helps maintain cell volume homeostasis by regulating the balance of sodium and chloride ions in the distal convoluted tubule. 5. **Chloride Ion Homeostasis:** NCC plays a critical role in maintaining chloride ion homeostasis by regulating the secretion of chloride ions in the distal convoluted tubule. **Clinical Significance:** 1. **Gitelman Syndrome:** Mutations in the SLC12A3 gene have been identified as the primary cause of Gitelman syndrome, a disorder characterized by hypokalemia, hypomagnesemia, and metabolic alkalosis. 2. **Hypokalemia:** NCC dysfunction can lead to hypokalemia, a condition characterized by low potassium levels in the blood. 3. **Hypomagnesemia:** NCC dysfunction can also lead to hypomagnesemia, a condition characterized by low magnesium levels in the blood. 4. **Metabolic Alkalosis:** NCC dysfunction can lead to metabolic alkalosis, a condition characterized by an increase in blood pH. 5. **Renal Sodium Ion Absorption:** NCC plays a critical role in regulating renal sodium ion absorption, which is essential for maintaining blood pressure and fluid balance. In conclusion, the SLC12A3 gene encodes for the NCC protein, which plays a critical role in regulating ion homeostasis and transmembrane transport in the distal convoluted tubule of the kidney. Mutations in the SLC12A3 gene have been identified as the primary cause of Gitelman syndrome, a disorder characterized by hypokalemia, hypomagnesemia, and metabolic alkalosis. Understanding the function and regulation of the SLC12A3 gene is essential for the diagnosis and treatment of Gitelman syndrome and other disorders related to ion homeostasis and transmembrane transport.

Genular Protein ID: 550760342

Symbol: S12A3_HUMAN

Name: Solute carrier family 12 member 3

UniProtKB Accession Codes:

P55017 A8MSJ2 C9JNN9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChEBI 22 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 9 DrugCentral 1 ELM 1 EMBL 4 EMDB 9 Ensembl 3 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIR 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 3 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8528245

Title: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

PubMed ID: 8528245

DOI: 10.1038/ng0196-24

PubMed ID: 8812482

Title: Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).

PubMed ID: 8812482

DOI: 10.1006/geno.1996.0388

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 21613606

Title: Similar Effects of all WNK3 Variants upon SLC12 Cotransporters.

PubMed ID: 21613606

DOI: 10.1152/ajpcell.00070.2011

PubMed ID: 18270262

Title: Activation of the thiazide-sensitive Na+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1.

PubMed ID: 18270262

DOI: 10.1242/jcs.025312

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26099046

Title: Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.

PubMed ID: 26099046

DOI: 10.1038/nm.3890

PubMed ID: 29993276

Title: H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.

PubMed ID: 29993276

DOI: 10.1152/ajprenal.00539.2017

PubMed ID: 22406640

Title: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

PubMed ID: 22406640

DOI: 10.1038/ng.2218

PubMed ID: 36351028

Title: Cryo-EM structure of the human sodium-chloride cotransporter NCC.

PubMed ID: 36351028

DOI: 10.1126/sciadv.add7176

PubMed ID: 36792826

Title: Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter.

PubMed ID: 36792826

DOI: 10.1038/s41586-023-05718-0

PubMed ID: 8900229

Title: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

PubMed ID: 8900229

PubMed ID: 8954067

Title: Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.

PubMed ID: 8954067

DOI: 10.1210/jcem.81.12.8954067

PubMed ID: 9734597

Title: Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

PubMed ID: 9734597

DOI: 10.1046/j.1523-1755.1998.00070.x

PubMed ID: 10988270

Title: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.

PubMed ID: 10988270

DOI: 10.1161/01.hyp.36.3.389

PubMed ID: 10616841

Title: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.

PubMed ID: 10616841

DOI: 10.1681/asn.v11165

PubMed ID: 11168953

Title: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

PubMed ID: 11168953

DOI: 10.1046/j.1523-1755.2001.059002710.x

PubMed ID: 11940055

Title: Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.

PubMed ID: 11940055

DOI: 10.1046/j.1365-2265.2002.01223.x

PubMed ID: 12008755

Title: Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

PubMed ID: 12008755

DOI: 10.1507/endocrj.49.91

PubMed ID: 12112667

Title: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

PubMed ID: 12112667

DOI: 10.1002/humu.9045

PubMed ID: 15069170

Title: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.

PubMed ID: 15069170

DOI: 10.1093/ndt/gfh239

PubMed ID: 15687331

Title: Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.

PubMed ID: 15687331

DOI: 10.1210/jc.2004-1905

PubMed ID: 16429844

Title: A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.

PubMed ID: 16429844

DOI: 10.5414/cnp65057

PubMed ID: 17654016

Title: Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

PubMed ID: 17654016

DOI: 10.1080/10425170701400456

PubMed ID: 17873326

Title: Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

PubMed ID: 17873326

DOI: 10.1007/s12020-007-0024-9

PubMed ID: 17885550

Title: Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families.

PubMed ID: 17885550

DOI: 10.1097/hjh.0b013e3282a9be1b

PubMed ID: 22009145

Title: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

PubMed ID: 22009145

DOI: 10.1038/ejhg.2011.189

PubMed ID: 33772578

Title: Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome.

PubMed ID: 33772578

DOI: 10.1093/qjmed/hcab066

PubMed ID: 33462018

Title: Novel SLC12A3 mutation in Gitelman syndrome.

PubMed ID: 33462018

DOI: 10.1136/bcr-2020-238097

PubMed ID: 34079339

Title: Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient.

PubMed ID: 34079339

DOI: 10.2147/ijgm.s308246

PubMed ID: 34657521

Title: Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.

PubMed ID: 34657521

DOI: 10.1080/00365513.2021.1989715

PubMed ID: 36370249

Title: R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.

PubMed ID: 36370249

DOI: 10.1007/s11684-022-0963-9

PubMed ID: 36460433

Title: Gitelman syndrome - A new mutation in the SLC12A3 gene.

PubMed ID: 36460433

DOI: 10.1016/j.nefroe.2022.06.002

PubMed ID: 35693921

Title: A novel mutation of SLC12A3 gene causing Gitelman syndrome.

PubMed ID: 35693921

DOI: 10.1177/2050313x221102294

Sequence Information:

  • Length: 1021
  • Mass: 113139
  • Checksum: 629C5A42F3234B71
  • Sequence:
    • MAELPTTETP GDATLCSGRF TISTLLSSDE PSPPAAYDSS HPSHLTHSST FCMRTFGYNT 
IDVVPTYEHY ANSTQPGEPR KVRPTLADLH SFLKQEGRHL HALAFDSRPS HEMTDGLVEG 
EAGTSSEKNP EEPVRFGWVK GVMIRCMLNI WGVILYLRLP WITAQAGIVL TWIIILLSVT 
VTSITGLSIS AISTNGKVKS GGTYFLISRS LGPELGGSIG LIFAFANAVG VAMHTVGFAE 
TVRDLLQEYG APIVDPINDI RIIAVVSVTV LLAISLAGME WESKAQVLFF LVIMVSFANY 
LVGTLIPPSE DKASKGFFSY RADIFVQNLV PDWRGPDGTF FGMFSIFFPS ATGILAGANI 
SGDLKDPAIA IPKGTLMAIF WTTISYLAIS ATIGSCVVRD ASGVLNDTVT PGWGACEGLA 
CSYGWNFTEC TQQHSCHYGL INYYQTMSMV SGFAPLITAG IFGATLSSAL ACLVSAAKVF 
QCLCEDQLYP LIGFFGKGYG KNKEPVRGYL LAYAIAVAFI IIAELNTIAP IISNFFLCSY 
ALINFSCFHA SITNSPGWRP SFQYYNKWAA LFGAIISVVI MFLLTWWAAL IAIGVVLFLL 
LYVIYKKPEV NWGSSVQAGS YNLALSYSVG LNEVEDHIKN YRPQCLVLTG PPNFRPALVD 
FVGTFTRNLS LMICGHVLIG PHKQRMPELQ LIANGHTKWL NKRKIKAFYS DVIAEDLRRG 
VQILMQAAGL GRMKPNILVV GFKKNWQSAH PATVEDYIGI LHDAFDFNYG VCVMRMREGL 
NVSKMMQAHI NPVFDPAEDG KEASARVDPK ALVKEEQATT IFQSEQGKKT IDIYWLFDDG 
GLTLLIPYLL GRKRRWSKCK IRVFVGGQIN RMDQERKAII SLLSKFRLGF HEVHILPDIN 
QNPRAEHTKR FEDMIAPFRL NDGFKDEATV NEMRRDCPWK ISDEEITKNR VKSLRQVRLN 
EIVLDYSRDA ALIVITLPIG RKGKCPSSLY MAWLETLSQD LRPPVILIRG NQENVLTFYC 
Q

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.