TissGeneSummary for SLC12A5 |
Gene summary |
Basic gene information | Gene symbol | SLC12A5 |
Gene name | solute carrier family 12 (potassium/chloride transporter), member 5 | |
Synonyms | KCC2 | |
Cytomap | UCSC genome browser: 20q13.12 | |
Type of gene | protein-coding | |
RefGenes | NM_001134771.1, NM_020708.4, | |
Description | K-Cl cotransporter 2electroneutral potassium-chloride cotransporter 2erythroid K-Cl cotransporter 2hKCC2neuronal K-Cl cotransportersolute carrier family 12 member 5 | |
Modification date | 20141207 | |
dbXrefs | MIM : 606726 | |
HGNC : HGNC | ||
Ensembl : ENSG00000124140 | ||
HPRD : 09469 | ||
Vega : OTTHUMG00000032638 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SLC12A5 | |
BioGPS: 57468 | ||
Pathway | NCI Pathway Interaction Database: SLC12A5 | |
KEGG: SLC12A5 | ||
REACTOME: SLC12A5 | ||
Pathway Commons: SLC12A5 | ||
Context | iHOP: SLC12A5 | |
ligand binding site mutation search in PubMed: SLC12A5 | ||
UCL Cancer Institute: SLC12A5 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,TiGER | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BrainEye | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGGUVM | |
Reference showing the relevant tissue of SLC12A5 | ||
Description by TissGene annotations | Have significant anti-correlated miRNA |
* 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 |
Top |
TissGeneExp for SLC12A5 |
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) |
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) |
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. |
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) |
- 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 |
THCA | -0.673690462 | -2.125048089 | 1.451357627 | 9.45E-13 | 8.40E-12 |
KICH | -0.216334055 | -1.960938055 | 1.744604 | 4.68E-08 | 2.27E-07 |
KIRC | -0.565463555 | -2.207009389 | 1.641545833 | 1.96E-20 | 1.61E-19 |
HNSC | -1.454091172 | -2.51584466 | 1.061753488 | 1.18E-08 | 1.41E-07 |
KIRP | -1.044932305 | -2.159713555 | 1.11478125 | 0.00153 | 0.004012 |
Top |
TissGene-miRNA for SLC12A5 |
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 |
UCS | hsa-miR-486-5p | MIMAT0002177 | 0.0039 | -0.38 | 56 |
Top |
TissGeneMut for SLC12A5 |
TissGeneSNV for SLC12A5 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G332E | SKCM | 5 |
p.G332R | SKCM | 3 |
p.G309R | SKCM | 3 |
p.G309E | SKCM | 3 |
p.E47K | SKCM | 2 |
p.E24K | SKCM | 2 |
p.H742Y | SKCM | 2 |
p.R803H | STAD | 2 |
p.D404N | CESC | 1 |
p.R254H | STAD | 1 |
p.S443C | BLCA | 1 |
p.R339Q | SKCM | 1 |
p.N1103K | LUAD | 1 |
p.R170K | BLCA | 1 |
p.E491K | HNSC | 1 |
p.M932I | SKCM | 1 |
p.D578G | GBM | 1 |
p.A1038T | SKCM | 1 |
p.P987L | COAD | 1 |
p.T178A | GBM | 1 |
p.L502V | BRCA | 1 |
p.E58K | HNSC | 1 |
p.R906H | UCS | 1 |
p.G43S | SKCM | 1 |
p.P129L | LUAD | 1 |
p.R1100W | SKCM | 1 |
p.Q132* | STAD | 1 |
p.V499L | LUAD | 1 |
p.E981K | SKCM | 1 |
p.G257S | PRAD | 1 |
p.G776D | PAAD | 1 |
p.A960T | SKCM | 1 |
p.L381F | SKCM | 1 |
p.E661K | BLCA | 1 |
p.S318F | SKCM | 1 |
p.N971S | SKCM | 1 |
p.R615Q | UCEC | 1 |
p.A970V | LUAD | 1 |
p.L209M | LUAD | 1 |
p.P1021L | SKCM | 1 |
p.R360Q | COAD | 1 |
p.E58D | UCEC | 1 |
p.R315H | PAAD | 1 |
p.G200W | BRCA | 1 |
p.P27S | SKCM | 1 |
p.L539F | PRAD | 1 |
p.E638K | BLCA | 1 |
p.P390L | SKCM | 1 |
p.S1048F | SKCM | 1 |
p.A478T | UCEC | 1 |
p.E735V | BRCA | 1 |
p.N361K | CESC | 1 |
p.A521S | PRAD | 1 |
p.D999N | SKCM | 1 |
p.K59N | LUAD | 1 |
p.G1131S | STAD | 1 |
p.T69I | SKCM | 1 |
p.L288R | BLCA | 1 |
p.E912K | HNSC | 1 |
p.V994_splice | LUSC | 1 |
p.L673F | HNSC | 1 |
p.R615* | PAAD | 1 |
p.V390M | PRAD | 1 |
p.E62V | LUAD | 1 |
p.A265V | SKCM | 1 |
p.E379D | UCEC | 1 |
p.E356D | COAD | 1 |
p.H871Q | ESCA | 1 |
p.Q116L | LUAD | 1 |
p.D426N | SKCM | 1 |
p.E201K | READ | 1 |
p.T92I | SKCM | 1 |
p.P413S | SARC | 1 |
p.I651M | BLCA | 1 |
p.R682C | STAD | 1 |
p.P455S | SKCM | 1 |
p.S149P | SKCM | 1 |
p.E1040D | COAD | 1 |
p.L717P | STAD | 1 |
p.F349L | SKCM | 1 |
p.E1085K | SKCM | 1 |
p.R592X | SKCM | 1 |
p.F307V | STAD | 1 |
p.K238E | BLCA | 1 |
p.K66N | UCEC | 1 |
p.G703S | BLCA | 1 |
p.G109S | SKCM | 1 |
p.D850N | ESCA | 1 |
p.A598V | LUAD | 1 |
p.K215E | BLCA | 1 |
p.S825N | SKCM | 1 |
p.E1108K | SKCM | 1 |
p.R677G | BLCA | 1 |
p.V601M | ESCA | 1 |
p.Q746* | LUAD | 1 |
p.G482R | SKCM | 1 |
p.M253I | LUAD | 1 |
p.T793S | BRCA | 1 |
p.R938G | BLCA | 1 |
p.S514L | READ | 1 |
p.N948S | SKCM | 1 |
p.S54N | UCEC | 1 |
p.N93Y | SARC | 1 |
p.L402M | LUAD | 1 |
p.L381I | LUSC | 1 |
p.A455V | UVM | 1 |
p.E458* | BLCA | 1 |
p.N93T | SARC | 1 |
p.L879V | BLCA | 1 |
p.S919N | LUAD | 1 |
p.R912H | OV | 1 |
p.V601L | LUSC | 1 |
p.R654G | BLCA | 1 |
p.P50S | SKCM | 1 |
p.S433L | CESC | 1 |
p.E1025D | UCEC | 1 |
p.R1123W | SKCM | 1 |
p.G477E | LUAD | 1 |
p.L598F | SKCM | 1 |
p.L1121R | LIHC | 1 |
p.F326L | SKCM | 1 |
p.D976N | SKCM | 1 |
p.G86S | SKCM | 1 |
p.G726S | BLCA | 1 |
p.Y208N | STAD | 1 |
p.W693C | BRCA | 1 |
p.A170T | MESO | 1 |
p.R615* | SKCM | 1 |
p.S383N | PAAD | 1 |
p.L680F | SKCM | 1 |
p.A983T | SKCM | 1 |
p.E910D | UCEC | 1 |
p.D578E | LUAD | 1 |
p.Q696L | LIHC | 1 |
p.A170T | BRCA | 1 |
p.C591* | UCEC | 1 |
p.Y188* | LUAD | 1 |
p.P79H | LUAD | 1 |
p.N229S | COAD | 1 |
p.I628M | BLCA | 1 |
p.R880C | STAD | 1 |
p.D386N | READ | 1 |
p.A652V | COAD | 1 |
p.V1084M | STAD | 1 |
p.G97E | SKCM | 1 |
p.A1090T | STAD | 1 |
p.D303Y | BRCA | 1 |
p.P413L | LUAD | 1 |
p.M864I | COAD | 1 |
p.E740K | SKCM | 1 |
p.P384A | COAD | 1 |
p.L561M | LUAD | 1 |
p.R869Q | STAD | 1 |
p.R803C | HNSC | 1 |
p.D857N | SKCM | 1 |
p.S433L | BLCA | 1 |
p.A89S | LUAD | 1 |
p.G210V | LUSC | 1 |
p.F423V | STAD | 1 |
p.G520E | SKCM | 1 |
p.N44T | UCEC | 1 |
p.G571D | STAD | 1 |
p.M1073K | HNSC | 1 |
p.P183T | LUAD | 1 |
p.A923S | SARC | 1 |
p.S48I | ESCA | 1 |
p.R961G | BLCA | 1 |
p.P1044L | SKCM | 1 |
p.D958V | LUSC | 1 |
p.T338A | STAD | 1 |
p.E569K | SKCM | 1 |
p.R348H | STAD | 1 |
p.A478V | UVM | 1 |
p.P505Q | LUAD | 1 |
p.Q109H | BLCA | 1 |
p.G667E | SKCM | 1 |
p.R803C | UCEC | 1 |
p.E1015G | LIHC | 1 |
p.R1088W | STAD | 1 |
p.L226M | LGG | 1 |
p.T335M | LUAD | 1 |
p.E311Q | THCA | 1 |
p.L621F | SKCM | 1 |
p.S771F | BRCA | 1 |
p.E108K | LUAD | 1 |
p.I29L | OV | 1 |
p.L562F | PRAD | 1 |
p.D666N | SKCM | 1 |
p.I454L | UCEC | 1 |
p.R254C | SARC | 1 |
p.A242V | SKCM | 1 |
p.V367M | PRAD | 1 |
p.D578Y | SKCM | 1 |
p.E980K | BRCA | 1 |
p.N179S | LIHC | 1 |
p.D449N | SKCM | 1 |
p.A909V | HNSC | 1 |
p.G1043D | UCEC | 1 |
p.G736D | OV | 1 |
p.V147M | LUAD | 1 |
p.E458Q | BLCA | 1 |
p.K873N | BLCA | 1 |
p.A535T | GBM | 1 |
p.T925I | LGG | 1 |
p.G1099R | BRCA | 1 |
p.G43D | KIRC | 1 |
p.K630E | COAD | 1 |
p.S848N | SKCM | 1 |
p.T972M | LUAD | 1 |
p.S410L | BLCA | 1 |
p.R615X | PAAD | 1 |
p.D958V | KIRC | 1 |
p.G513X | ESCA | 1 |
p.L358F | SKCM | 1 |
p.E334Q | THCA | 1 |
p.R906H | LUAD | 1 |
p.P413L | SKCM | 1 |
p.G522R | SKCM | 1 |
p.A886E | COAD | 1 |
p.G701E | SKCM | 1 |
p.R682C | HNSC | 1 |
p.G724E | SKCM | 1 |
p.L195V | CESC | 1 |
p.G497E | SKCM | 1 |
p.R538S | LUAD | 1 |
p.G20S | SKCM | 1 |
p.V137I | STAD | 1 |
p.S576F | LGG | 1 |
p.E224K | SKCM | 1 |
p.L902V | BLCA | 1 |
p.E656* | LUAD | 1 |
p.S172P | SKCM | 1 |
Top |
TissGeneCNV for SLC12A5 |
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) |
Top |
TissGeneFusions for SLC12A5 |
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 |
TCGAfusionPortal | PRADA | OV | TCGA-23-1024-01A | ZNF350-SLC12A5 | In-frame | Chr19:52477599 | Chr20:44669012 |
Top |
TissGeneNet for SLC12A5 |
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) |
Top |
TissGeneProg for SLC12A5 |
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. |
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. |
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. |
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. |
Top |
TissGeneClin for SLC12A5 |
TissGeneDrug for SLC12A5 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00887 | Bumetanide | Inhibitor | Small molecule | Approved |
DB00761 | Potassium Chloride | Small molecule | Approved|Withdrawn |
Top |
TissGeneDisease for SLC12A5 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0014544 | Epilepsy | 6 | BeFree,CTD_human |
umls:C0036341 | Schizophrenia | 3 | BeFree |
umls:C0036572 | Seizures | 3 | BeFree,CTD_human |
umls:C0014556 | Epilepsy, Temporal Lobe | 2 | BeFree,CTD_human |
umls:C0027796 | Neuralgia | 2 | BeFree |
umls:C0006118 | Brain Neoplasms | 1 | BeFree |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0009952 | Febrile Convulsions | 1 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | GAD |
umls:C0020072 | Hereditary Sensory Autonomic Neuropathy, Type 2 | 1 | BeFree |
umls:C0020429 | Hyperalgesia | 1 | CTD_human |
umls:C0022116 | Ischemia | 1 | BeFree |
umls:C0027888 | Hereditary Motor and Sensory Neuropathies | 1 | BeFree |
umls:C0038220 | Status Epilepticus | 1 | BeFree,CTD_human |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0150055 | Chronic pain | 1 | BeFree |
umls:C0270820 | Gelastic Epilepsy | 1 | BeFree |
umls:C0270850 | Idiopathic generalized epilepsy | 1 | BeFree |
umls:C0342418 | Hypothalamic hamartomas | 1 | BeFree |
umls:C0344307 | Absence of pain sensation | 1 | BeFree |
umls:C0525045 | Mood Disorders | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |