 |
| |
| |
| |
| |
| |
| |
|
| TissGeneSummary for KCNQ2 |
 Gene summary |
| Basic gene information | Gene symbol | KCNQ2 |
| Gene name | potassium voltage-gated channel, KQT-like subfamily, member 2 | |
| Synonyms | BFNC|BFNS1|EBN|EBN1|EIEE7|ENB1|HNSPC|KCNA11|KV7.2|KVEBN1 | |
| Cytomap | UCSC genome browser: 20q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004518.4, NM_172106.1,NM_172107.2,NM_172108.3,NM_172109.1, | |
| Description | KQT-like 2neuroblastoma-specific potassium channel proteinneuroblastoma-specific potassium channel subunit alpha KvLQT2potassium voltage-gated channel subfamily KQT member 2voltage-gated potassium channel subunit Kv7.2 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 602235 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000075043 | ||
| HPRD : 03757 | ||
| Vega : OTTHUMG00000033049 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KCNQ2 | |
| BioGPS: 3785 | ||
| Pathway | NCI Pathway Interaction Database: KCNQ2 | |
| KEGG: KCNQ2 | ||
| REACTOME: KCNQ2 | ||
| Pathway Commons: KCNQ2 | ||
| Context | iHOP: KCNQ2 | |
| ligand binding site mutation search in PubMed: KCNQ2 | ||
| UCL Cancer Institute: KCNQ2 | ||
| 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) | Brain | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGG | |
| Reference showing the relevant tissue of KCNQ2 | ||
| Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS Cancer gene | |
| * 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 KCNQ2 |
| 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 |
| LUAD | 0.062338747 | -1.329652632 | 1.391991379 | 2.26E-05 | 6.31E-05 |
| KICH | -1.233028218 | 0.189367782 | -1.422396 | 6.88E-05 | 0.000186055 |
| Top |
| TissGene-miRNA for KCNQ2 |
| 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 |
| Top |
| TissGeneMut for KCNQ2 |
| TissGeneSNV for KCNQ2 |
| 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.G657D | KIRC | 2 |
| p.T855P | ACC | 2 |
| p.Y821* | BLCA | 1 |
| p.R655L | LUAD | 1 |
| p.G604D | LGG | 1 |
| p.I807V | STAD | 1 |
| p.G281W | CHOL | 1 |
| p.V480A | STAD | 1 |
| p.G301S | STAD | 1 |
| p.S122* | LUAD | 1 |
| p.I834T | KIRC | 1 |
| p.P589S | SKCM | 1 |
| p.R210C | LIHC | 1 |
| p.E529K | SKCM | 1 |
| p.G281E | SKCM | 1 |
| p.M641I | SKCM | 1 |
| p.G138C | LUAD | 1 |
| p.S572L | LUAD | 1 |
| p.E557K | SKCM | 1 |
| p.Q599H | HNSC | 1 |
| p.N780T | COAD | 1 |
| p.K636N | LUAD | 1 |
| p.G621E | STAD | 1 |
| p.D785N | BRCA | 1 |
| p.Q505L | LUAD | 1 |
| p.D785N | PRAD | 1 |
| p.G632E | SKCM | 1 |
| p.G256W | LUAD | 1 |
| p.Q377E | BLCA | 1 |
| p.S485R | THYM | 1 |
| p.A294E | BRCA | 1 |
| p.D398E | SARC | 1 |
| p.A295T | PAAD | 1 |
| p.R153L | LUAD | 1 |
| p.Q768L | LIHC | 1 |
| p.E530X | LIHC | 1 |
| p.A707T | COAD | 1 |
| p.R432H | UCEC | 1 |
| p.E364K | UCEC | 1 |
| p.P668Q | STAD | 1 |
| p.E786* | HNSC | 1 |
| p.R469C | SARC | 1 |
| p.P625S | SKCM | 1 |
| p.A294P | UCEC | 1 |
| p.A432D | BLCA | 1 |
| p.S475L | LUAD | 1 |
| p.P860Q | LUAD | 1 |
| p.F168L | HNSC | 1 |
| p.Q377E | UCEC | 1 |
| p.R333W | STAD | 1 |
| p.L299P | KICH | 1 |
| p.C242F | LUSC | 1 |
| p.R547W | PAAD | 1 |
| p.G624E | SKCM | 1 |
| p.R647L | LUAD | 1 |
| p.T366M | LUAD | 1 |
| p.R210H | COAD | 1 |
| p.M633I | SKCM | 1 |
| p.G787E | SKCM | 1 |
| p.G310S | STAD | 1 |
| p.P370L | SKCM | 1 |
| p.P859T | LUAD | 1 |
| p.G649D | UCEC | 1 |
| p.E569K | STAD | 1 |
| p.F248S | KIRP | 1 |
| p.R365X | COAD | 1 |
| p.P709H | ESCA | 1 |
| p.E480G | SKCM | 1 |
| p.R461H | PAAD | 1 |
| p.D475N | UCEC | 1 |
| p.G697D | COAD | 1 |
| p.V543M | COAD | 1 |
| p.S795F | SKCM | 1 |
| p.D791Y | LUAD | 1 |
| p.F527L | BRCA | 1 |
| p.H386N | HNSC | 1 |
| p.E498K | MESO | 1 |
| p.G290V | LUAD | 1 |
| p.A348V | SKCM | 1 |
| p.P666L | COAD | 1 |
| p.E656Q | ESCA | 1 |
| p.G804S | UCEC | 1 |
| p.A306V | ESCA | 1 |
| p.R685Q | SKCM | 1 |
| p.F346L | BLCA | 1 |
| p.R519W | PAAD | 1 |
| p.K880E | SKCM | 1 |
| p.R489H | PAAD | 1 |
| p.D646H | LUAD | 1 |
| p.V539F | LIHC | 1 |
| p.K482Q | LUAD | 1 |
| p.R541G | COAD | 1 |
| p.C854W | SKCM | 1 |
| p.A502V | STAD | 1 |
| p.L356M | PAAD | 1 |
| p.G574S | KIRP | 1 |
| p.R783M | LUAD | 1 |
| p.E330K | SKCM | 1 |
| p.E474Q | STAD | 1 |
| p.P651S | LUAD | 1 |
| p.A343V | MESO | 1 |
| p.R767Q | UCEC | 1 |
| p.W157* | SKCM | 1 |
| p.A707T | KIRP | 1 |
| p.V593L | OV | 1 |
| p.E778* | HNSC | 1 |
| p.L845I | COAD | 1 |
| p.R207Q | COAD | 1 |
| p.S816Y | LUAD | 1 |
| p.K454Q | LUAD | 1 |
| p.M371I | LUAD | 1 |
| p.P335T | LUAD | 1 |
| p.K493N | CESC | 1 |
| p.Y284D | LUAD | 1 |
| p.P659S | LUAD | 1 |
| p.P717H | ESCA | 1 |
| p.S544L | LUAD | 1 |
| p.E664Q | ESCA | 1 |
| p.P861L | SKCM | 1 |
| p.R622W | READ | 1 |
| p.E508G | SKCM | 1 |
| p.V567F | LIHC | 1 |
| p.R775M | LUAD | 1 |
| p.W157X | SKCM | 1 |
| p.A715T | SARC | 1 |
| p.I842T | KIRC | 1 |
| p.K872E | SKCM | 1 |
| p.S352L | BRCA | 1 |
| p.I278V | LGG | 1 |
| p.I115M | BRCA | 1 |
| p.D282G | HNSC | 1 |
| p.R155S | COAD | 1 |
| p.G290S | COAD | 1 |
| p.R70H | UCEC | 1 |
| p.A825V | ESCA | 1 |
| p.T855P | LGG | 1 |
| p.D266N | SKCM | 1 |
| p.R160L | LUAD | 1 |
| p.D532N | READ | 1 |
| p.P705R | ESCA | 1 |
| p.R144W | UCEC | 1 |
| p.P869L | SKCM | 1 |
| p.Y829* | BLCA | 1 |
| p.Q591H | HNSC | 1 |
| p.R375H | STAD | 1 |
| p.D355N | SKCM | 1 |
| p.R365Q | BRCA | 1 |
| p.S676R | LUSC | 1 |
| p.H357R | LUSC | 1 |
| p.S808Y | LUAD | 1 |
| p.V139M | STAD | 1 |
| p.T274M | CESC | 1 |
| p.G604V | LUAD | 1 |
| p.G222V | LUAD | 1 |
| p.Q477L | LUAD | 1 |
| p.A185T | STAD | 1 |
| p.K283N | CESC | 1 |
| p.S455N | SKCM | 1 |
| p.R677Q | SKCM | 1 |
| p.K644N | LUAD | 1 |
| p.R547Q | STAD | 1 |
| p.N813K | LUSC | 1 |
| p.D793N | PRAD | 1 |
| p.E487Q | CESC | 1 |
| p.I131F | SKCM | 1 |
| p.R432C | KIRC | 1 |
| Top |
| TissGeneCNV for KCNQ2 |
| 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 KCNQ2 |
| 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 | DA064555 | KCNQ2-ATP6V0B | chr20:62066190 | chr1:44442008 | |
| Chimerdb3.0 | FusionScan | BRCA | TCGA-A2-A3XW-01A | NUP62-KCNQ2 | 5'UTR-CDS | chr19:50430950 | chr20:62076717 |
| Chimerdb3.0 | TopHat-Fusion | BRCA | TCGA-A2-A3XW-01A | NUP62-KCNQ2 | 5'UTR-CDS | chr19:50430950 | chr20:62076716 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-A2-A3XW-01A | IL4I1-KCNQ2 | 5UTR-CDS | Chr19:50430951 | Chr20:62076717 |
| Top |
| TissGeneNet for KCNQ2 |
| 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) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (tumor) | KCNQ2, PRKCA, CALM1, KCNQ1, ARIH2, CALM3, CALM2, KCNQ3 (normal) |
 |  |
| Top |
| TissGeneProg for KCNQ2 |
| 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 KCNQ2 |
| TissGeneDrug for KCNQ2 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB04953 | Ezogabine | Small molecule | Approved | |
| DB00586 | Diclofenac | Other | Small molecule | Approved|Vet_approved |
| DB00939 | Meclofenamic acid | Other | Small molecule | Approved|Vet_approved |
| Top |
| TissGeneDisease for KCNQ2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0220669 | Familial benign neonatal epilepsy | 58 | BeFree,ORPHANET |
| umls:C0014544 | Epilepsy | 45 | BeFree,CTD_human,GAD,LHGDN |
| umls:C1852581 | EPILEPSY, BENIGN NEONATAL, 2 | 19 | BeFree |
| umls:C0036572 | Seizures | 15 | BeFree,LHGDN |
| umls:C0159020 | Convulsions in the newborn | 15 | BeFree |
| umls:C0270851 | Benign neonatal epilepsy | 11 | BeFree,CTD_human,LHGDN |
| umls:C0543888 | Epileptic encephalopathy | 9 | BeFree |
| umls:C0085584 | Encephalopathies | 5 | BeFree |
| umls:C0270850 | Idiopathic generalized epilepsy | 5 | BeFree |
| umls:C3149074 | SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | 4 | CTD_human,MGD,UNIPROT |
| umls:C0014548 | Epilepsy, Generalized | 3 | BeFree |
| umls:C0339789 | Congenital deafness | 3 | BeFree |
| umls:C0684219 | Myokymia | 3 | BeFree |
| umls:C0751122 | Infantile Severe Myoclonic Epilepsy | 3 | BeFree |
| umls:C3714756 | Intellectual Disability | 3 | BeFree |
| umls:C0023976 | Long QT Syndrome | 2 | BeFree |
| umls:C0036341 | Schizophrenia | 2 | BeFree |
| umls:C0265482 | Ring Chromosome 20 Syndrome | 2 | BeFree |
| umls:C0270853 | Myoclonic Epilepsy, Juvenile | 2 | BeFree |
| umls:C0338656 | Impaired cognition | 2 | BeFree |
| umls:C0376532 | Epilepsy, Rolandic | 2 | BeFree |
| umls:C0391957 | idiopathic epilepsy | 2 | BeFree |
| umls:C0393706 | Early infantile epileptic encephalopathy with suppression bursts | 2 | BeFree,ORPHANET |
| umls:C3150986 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | 2 | CLINVAR,CTD_human,UNIPROT |
| umls:C0005586 | Bipolar Disorder | 1 | BeFree |
| umls:C0008073 | Developmental Disabilities | 1 | CTD_human |
| umls:C0009952 | Febrile Convulsions | 1 | BeFree,LHGDN |
| umls:C0025362 | Mental Retardation | 1 | BeFree |
| umls:C0026351 | Moderate mental retardation (I.Q. 35-49) | 1 | BeFree |
| umls:C0027765 | nervous system disorder | 1 | CTD_human |
| umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 1 | BeFree |
| umls:C0234535 | Seizures, Clonic | 1 | BeFree |
| umls:C0751785 | Unverricht-Lundborg Syndrome | 1 | BeFree |
| umls:C0863106 | Afebrile seizure | 1 | BeFree |
| umls:C1720983 | Channelopathies | 1 | BeFree |
| umls:C1839839 | MAJOR AFFECTIVE DISORDER 2 | 1 | BeFree |
| umls:C1852197 | MAJOR AFFECTIVE DISORDER 1 | 1 | BeFree |
| umls:C1970943 | MAJOR AFFECTIVE DISORDER 4 | 1 | BeFree |
| umls:C1970944 | MAJOR AFFECTIVE DISORDER 5 | 1 | BeFree |
| umls:C1970945 | MAJOR AFFECTIVE DISORDER 6 | 1 | BeFree |
| umls:C2700438 | MAJOR AFFECTIVE DISORDER 7 | 1 | BeFree |
| umls:C2700439 | MAJOR AFFECTIVE DISORDER 8 | 1 | BeFree |
| umls:C2700440 | MAJOR AFFECTIVE DISORDER 9 | 1 | BeFree |
| umls:C2931919 | X-linked infantile spasm syndrome | 1 | BeFree |
| umls:C1843140 | SEIZURES, BENIGN FAMILIAL INFANTILE, 3 | 0 | ORPHANET |
| umls:C1852587 | EPILEPSY, BENIGN NEONATAL, 1 | 0 | CLINVAR |
| umls:C1959629 | Seizure Adverse Event | 0 | CLINVAR |
| umls:C3149075 | SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA | 0 | CLINVAR |
Copyright 2016-Present - The University of Texas Health Science Center at Houston (UTHealth) Web File Viewing | How to Report, Fraud, Waste and Abuse | State of Texas | Statewide Search | Texas Homeland Security | Site Policies |