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| TissGeneSummary for SLC12A3 |
 Gene summary |
| Basic gene information | Gene symbol | SLC12A3 |
| Gene name | solute carrier family 12 (sodium/chloride transporter), member 3 | |
| Synonyms | NCC|NCCT|TSC | |
| Cytomap | UCSC genome browser: 16q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000339.2, NM_001126107.1,NM_001126108.1, | |
| Description | Na-Cl cotransporterNa-Cl symporterNaCl electroneutral thiazide-sensitive cotransportersolute carrier family 12 member 3thiazide-sensitive Na-Cl cotransporterthiazide-sensitive sodium-chloride cotransporter | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600968 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000070915 | ||
| HPRD : 02984 | ||
| Vega : OTTHUMG00000133284 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SLC12A3 | |
| BioGPS: 6559 | ||
| Pathway | NCI Pathway Interaction Database: SLC12A3 | |
| KEGG: SLC12A3 | ||
| REACTOME: SLC12A3 | ||
| Pathway Commons: SLC12A3 | ||
| Context | iHOP: SLC12A3 | |
| ligand binding site mutation search in PubMed: SLC12A3 | ||
| UCL Cancer Institute: SLC12A3 | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | CervixKidney | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCKIRC,KIRP,KICH | |
| Reference showing the relevant tissue of SLC12A3 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for SLC12A3 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| KIRC | 0.82736056 | 8.973864727 | -8.146504167 | 5.37E-37 | 1.77E-35 |
| KIRP | -0.437492912 | 9.701507088 | -10.139 | 9.22E-27 | 1.59E-24 |
| KICH | 0.786418338 | 8.030618338 | -7.2442 | 8.08E-14 | 1.19E-12 |
| Top |
| TissGene-miRNA for SLC12A3 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for SLC12A3 |
| TissGeneSNV for SLC12A3 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.G1019E | SKCM | 2 |
| p.W558* | SKCM | 2 |
| p.R1018Q | BLCA | 1 |
| p.V265M | STAD | 1 |
| p.G463W | THYM | 1 |
| p.W586C | UCS | 1 |
| p.Q877* | SKCM | 1 |
| p.D882G | UCEC | 1 |
| p.R667Q | COAD | 1 |
| p.S710L | SKCM | 1 |
| p.C547Y | UCEC | 1 |
| p.D716G | PAAD | 1 |
| p.A815T | LGG | 1 |
| p.S178L | STAD | 1 |
| p.R913G | LUSC | 1 |
| p.Y37F | HNSC | 1 |
| p.A797V | COAD | 1 |
| p.N736D | SARC | 1 |
| p.V983I | SKCM | 1 |
| p.P560H | LUAD | 1 |
| p.G779R | SKCM | 1 |
| p.I591N | THYM | 1 |
| p.G800E | SKCM | 1 |
| p.P349L | LUAD | 1 |
| p.A370S | ESCA | 1 |
| p.N622S | DLBC | 1 |
| p.G137S | UCEC | 1 |
| p.V63L | LUAD | 1 |
| p.R655C | SKCM | 1 |
| p.A657V | SKCM | 1 |
| p.N940K | LIHC | 1 |
| p.R928C | READ | 1 |
| p.E68Q | ACC | 1 |
| p.K949N | LUAD | 1 |
| p.D766G | LIHC | 1 |
| p.L648F | UCEC | 1 |
| p.R334W | UCEC | 1 |
| p.S350L | STAD | 1 |
| p.A820T | SKCM | 1 |
| p.F317I | LUSC | 1 |
| p.Q787R | THYM | 1 |
| p.N611T | KIRP | 1 |
| p.L738V | BLCA | 1 |
| p.K869N | LUAD | 1 |
| p.N622S | KIRP | 1 |
| p.A588V | KIRP | 1 |
| p.E1004Q | BLCA | 1 |
| p.R667Q | SKCM | 1 |
| p.N299S | BLCA | 1 |
| p.D337H | BLCA | 1 |
| p.Q563X | SKCM | 1 |
| p.Q563* | SKCM | 1 |
| p.K706N | LUAD | 1 |
| p.P336S | SKCM | 1 |
| p.D808Y | PAAD | 1 |
| p.E609K | SKCM | 1 |
| p.A469V | GBM | 1 |
| p.P33Q | CESC | 1 |
| p.R777Q | BRCA | 1 |
| p.T956M | SKCM | 1 |
| p.A550V | LUSC | 1 |
| p.P130L | SKCM | 1 |
| p.E248K | SKCM | 1 |
| p.W587X | SKCM | 1 |
| p.E715K | PAAD | 1 |
| p.G741R | SKCM | 1 |
| p.V634L | THYM | 1 |
| p.G237S | SKCM | 1 |
| p.R507C | COAD | 1 |
| p.T649M | SKCM | 1 |
| p.R145C | SKCM | 1 |
| p.G493V | OV | 1 |
| p.R399C | STAD | 1 |
| p.L689F | COAD | 1 |
| p.R80W | LUAD | 1 |
| p.R243W | COAD | 1 |
| p.D931N | SKCM | 1 |
| p.Q747E | SARC | 1 |
| p.A588E | LUAD | 1 |
| p.A228V | GBM | 1 |
| p.P796A | LUSC | 1 |
| p.R777W | ESCA | 1 |
| p.K197N | UCEC | 1 |
| p.M785I | UCEC | 1 |
| p.E131K | BLCA | 1 |
| p.L845F | LAML | 1 |
| p.D817Y | PAAD | 1 |
| p.L440P | LIHC | 1 |
| p.G342R | COAD | 1 |
| p.A752T | LGG | 1 |
| p.G303E | SKCM | 1 |
| p.A388V | LUSC | 1 |
| p.F317L | LIHC | 1 |
| p.A788V | COAD | 1 |
| p.A727S | THYM | 1 |
| p.W587* | SKCM | 1 |
| p.C430Y | THYM | 1 |
| p.V595M | STAD | 1 |
| p.A788T | PAAD | 1 |
| p.A624S | SARC | 1 |
| p.H696N | LUAD | 1 |
| p.K365N | PAAD | 1 |
| p.G898E | SKCM | 1 |
| p.W333R | CESC | 1 |
| p.K860N | LUAD | 1 |
| p.G220C | KIRC | 1 |
| p.A454T | STAD | 1 |
| p.R80Q | COAD | 1 |
| p.G167V | LUSC | 1 |
| p.E68K | SKCM | 1 |
| p.G496S | HNSC | 1 |
| p.R399C | READ | 1 |
| p.C645Y | OV | 1 |
| p.S275P | LUSC | 1 |
| p.R777Q | STAD | 1 |
| p.K940N | LUAD | 1 |
| p.G316S | SKCM | 1 |
| Top |
| TissGeneCNV for SLC12A3 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for SLC12A3 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BI764101 | SLC12A3-SLC12A3 | chr16:56926944 | chr16:56926924 |
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| TissGeneNet for SLC12A3 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| COAD (tumor) | COAD (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| KICH (tumor) | KICH (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| STAD (tumor) | STAD (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| THCA (tumor) | THCA (normal) |
| SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (tumor) | SLC12A3, UBC, MDFI, TRIP6, NEDD4, KRTAP4-12, CCDC85B, PDIA3, EFEMP2, WNK4, KCTD17 (normal) |
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| TissGeneProg for SLC12A3 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for SLC12A3 |
| TissGeneDrug for SLC12A3 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00436 | Bendroflumethiazide | Inhibitor | Small molecule | Approved |
| DB00524 | Metolazone | Inhibitor | Small molecule | Approved |
| DB01119 | Diazoxide | Unknown | Small molecule | Approved |
| DB01324 | Polythiazide | Inhibitor | Small molecule | Approved |
| DB01325 | Quinethazone | Inhibitor | Small molecule | Approved |
| DB00880 | Chlorothiazide | Inhibitor | Small molecule | Approved|Vet_approved |
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| TissGeneDisease for SLC12A3 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0268450 | Gitelman Syndrome | 50 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT |
| umls:C0020538 | Hypertensive disease | 29 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0041341 | Tuberous Sclerosis | 26 | BeFree |
| umls:C0020599 | Hypocalciuria | 9 | BeFree |
| umls:C0004775 | Bartter Disease | 8 | BeFree |
| umls:C0085580 | Essential Hypertension | 8 | BeFree |
| umls:C0011881 | Diabetic Nephropathy | 7 | BeFree,GAD,LHGDN |
| umls:C0018552 | Hamartoma | 7 | BeFree |
| umls:C1449844 | Pseudohypoaldosteronism, Type II | 7 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 6 | BeFree,GAD |
| umls:C0022658 | Kidney Diseases | 6 | BeFree,CTD_human |
| umls:C0085570 | Hypokalemic alkalosis | 4 | BeFree |
| umls:C0206633 | Angiomyolipoma | 4 | BeFree |
| umls:C0751674 | Lymphangioleiomyomatosis | 4 | BeFree |
| umls:C0000768 | Congenital Abnormality | 3 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 3 | BeFree |
| umls:C3469605 | PSEUDOHYPOALDOSTERONISM, TYPE IID | 3 | BeFree |
| umls:C0014544 | Epilepsy | 2 | BeFree |
| umls:C0020438 | Hypercalciuria | 2 | BeFree |
| umls:C0027709 | Nephrocalcinosis | 2 | BeFree |
| umls:C0029456 | Osteoporosis | 2 | BeFree |
| umls:C0085669 | Acute leukemia | 2 | BeFree |
| umls:C0151747 | Renal tubular disorder | 2 | BeFree |
| umls:C0220983 | Metabolic alkalosis | 2 | BeFree |
| umls:C0740898 | Hypokalemic metabolic alkalosis | 2 | BeFree |
| umls:C0003850 | Arteriosclerosis | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | BeFree |
| umls:C0006118 | Brain Neoplasms | 1 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | BeFree |
| umls:C0008487 | Chordoma | 1 | BeFree |
| umls:C0011847 | Diabetes | 1 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0011884 | Diabetic Retinopathy | 1 | BeFree |
| umls:C0011991 | Diarrhea | 1 | BeFree |
| umls:C0014599 | Epithelial hyperplasia | 1 | BeFree |
| umls:C0017636 | Glioblastoma | 1 | BeFree |
| umls:C0019569 | Hirschsprung Disease | 1 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 1 | BeFree |
| umls:C0023467 | Leukemia, Myelocytic, Acute | 1 | BeFree |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | RGD |
| umls:C0025149 | Medulloblastoma | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0027707 | Nephritis, Interstitial | 1 | BeFree |
| umls:C0033845 | Pseudotumor Cerebri | 1 | BeFree |
| umls:C0035078 | Kidney Failure | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0042373 | Vascular Diseases | 1 | CTD_human |
| umls:C0085758 | Aganglionosis, Colonic | 1 | BeFree |
| umls:C0149630 | Bicuspid aortic valve | 1 | BeFree |
| umls:C0149925 | Small cell carcinoma of lung | 1 | BeFree |
| umls:C0152013 | Adenocarcinoma of lung (disorder) | 1 | BeFree |
| umls:C0175704 | LEOPARD Syndrome | 1 | BeFree |
| umls:C0205768 | Subependymal Giant Cell Astrocytoma | 1 | BeFree |
| umls:C0206660 | Germinoma | 1 | BeFree |
| umls:C0220666 | ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA | 1 | BeFree |
| umls:C0221505 | Lesion of brain | 1 | BeFree |
| umls:C0232601 | Concealed vomiting | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | BeFree |
| umls:C0242387 | Mandibulofacial Dysostosis | 1 | BeFree |
| umls:C0431129 | Adamantinous Craniopharyngioma | 1 | BeFree |
| umls:C0431380 | Cortical Dysplasia | 1 | BeFree |
| umls:C0431391 | Hemimegalencephaly | 1 | BeFree |
| umls:C0522224 | Paralysed | 1 | LHGDN |
| umls:C0546817 | Fluid overload | 1 | BeFree |
| umls:C0559758 | Multisystem disorder | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0740457 | Malignant neoplasm of kidney | 1 | BeFree |
| umls:C0854912 | Pineal germinoma | 1 | BeFree |
| umls:C0949664 | Tauopathies | 1 | BeFree |
| umls:C1261473 | Sarcoma | 1 | BeFree |
| umls:C1378703 | Renal carcinoma | 1 | BeFree |
| umls:C1384514 | Conn Syndrome | 1 | BeFree |
| umls:C1404153 | Valve anomalies | 1 | BeFree |
| umls:C1835171 | Hypomagnesemia 2, renal | 1 | BeFree |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | GAD |
| umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
| umls:C2930930 | Abdominal obesity metabolic syndrome | 1 | BeFree |
| umls:C2931876 | Hirschsprung disease 1 | 1 | BeFree |
| umls:C3542024 | AORTIC VALVE DISEASE 2 | 1 | BeFree |
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