Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNQ3 (potassium voltage-gated channel subfamily Q member 3)

Identity

Alias_namesEBN2
potassium voltage-gated channel, KQT-like subfamily, member 3
potassium channel, voltage gated KQT-like subfamily Q, member 3
Alias_symbol (synonym)Kv7.3
Other aliasBFNC2
KV7.3
HGNC (Hugo) KCNQ3
LocusID (NCBI) 3786
Atlas_Id 41052
Location 8q24.22  [Link to chromosome band 8q24]
Location_base_pair Starts at 132120858 and ends at 132480757 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KCNQ3 (8q24.22) / EVI5 (1p22.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)KCNQ3   6297
Cards
Entrez_Gene (NCBI)KCNQ3  3786  potassium voltage-gated channel subfamily Q member 3
AliasesBFNC2; EBN2; KV7.3
GeneCards (Weizmann)KCNQ3
Ensembl hg19 (Hinxton)ENSG00000184156 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184156 [Gene_View]  ENSG00000184156 [Sequence]  chr8:132120858-132480757 [Contig_View]  KCNQ3 [Vega]
ICGC DataPortalENSG00000184156
TCGA cBioPortalKCNQ3
AceView (NCBI)KCNQ3
Genatlas (Paris)KCNQ3
WikiGenes3786
SOURCE (Princeton)KCNQ3
Genetics Home Reference (NIH)KCNQ3
Genomic and cartography
GoldenPath hg38 (UCSC)KCNQ3  -     chr8:132120858-132480757 -  8q24.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNQ3  -     8q24.22   [Description]    (hg19-Feb_2009)
GoldenPathKCNQ3 - 8q24.22 [CytoView hg19]  KCNQ3 - 8q24.22 [CytoView hg38]
ImmunoBaseENSG00000184156
Mapping of homologs : NCBIKCNQ3 [Mapview hg19]  KCNQ3 [Mapview hg38]
OMIM121201   602232   
Gene and transcription
Genbank (Entrez)AB208890 AF033347 AK094705 AK095711 AK296293
RefSeq transcript (Entrez)NM_001204824 NM_004519
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNQ3
Cluster EST : UnigeneHs.374023 [ NCBI ]
CGAP (NCI)Hs.374023
Alternative Splicing GalleryENSG00000184156
Gene ExpressionKCNQ3 [ NCBI-GEO ]   KCNQ3 [ EBI - ARRAY_EXPRESS ]   KCNQ3 [ SEEK ]   KCNQ3 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNQ3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3786
GTEX Portal (Tissue expression)KCNQ3
Human Protein AtlasENSG00000184156-KCNQ3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43525   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43525  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43525
Splice isoforms : SwissVarO43525
PhosPhoSitePlusO43525
Domains : Interpro (EBI)Ankyrin-G_BS    Ion_trans_dom    K_chnl_volt-dep_KCNQ    K_chnl_volt-dep_KCNQ3    K_chnl_volt-dep_KCNQ_C    VG_K_chnl   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    KCNQ_channel (PF03520)    KCNQC3-Ank-G_bd (PF11956)   
Domain families : Pfam (NCBI)pfam00520    pfam03520    pfam11956   
Conserved Domain (NCBI)KCNQ3
DMDM Disease mutations3786
Blocks (Seattle)KCNQ3
PDB (RSDB)5J03   
PDB Europe5J03   
PDB (PDBSum)5J03   
PDB (IMB)5J03   
Structural Biology KnowledgeBase5J03   
SCOP (Structural Classification of Proteins)5J03   
CATH (Classification of proteins structures)5J03   
SuperfamilyO43525
Human Protein Atlas [tissue]ENSG00000184156-KCNQ3 [tissue]
Peptide AtlasO43525
HPRD09077
IPIIPI00012857   IPI00556205   IPI00976856   IPI00979950   
Protein Interaction databases
DIP (DOE-UCLA)O43525
IntAct (EBI)O43525
FunCoupENSG00000184156
BioGRIDKCNQ3
STRING (EMBL)KCNQ3
ZODIACKCNQ3
Ontologies - Pathways
QuickGOO43525
Ontology : AmiGOvoltage-gated potassium channel activity  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  protein binding  calmodulin binding  calmodulin binding  plasma membrane  plasma membrane  integral component of plasma membrane  chemical synaptic transmission  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  integral component of membrane  node of Ranvier  regulation of ion transmembrane transport  axon initial segment  axon initial segment  membrane hyperpolarization  potassium ion transmembrane transport  potassium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated potassium channel activity  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  protein binding  calmodulin binding  calmodulin binding  plasma membrane  plasma membrane  integral component of plasma membrane  chemical synaptic transmission  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  integral component of membrane  node of Ranvier  regulation of ion transmembrane transport  axon initial segment  axon initial segment  membrane hyperpolarization  potassium ion transmembrane transport  potassium ion transmembrane transport  
Pathways : KEGGCholinergic synapse   
NDEx NetworkKCNQ3
Atlas of Cancer Signalling NetworkKCNQ3
Wikipedia pathwaysKCNQ3
Orthology - Evolution
OrthoDB3786
GeneTree (enSembl)ENSG00000184156
Phylogenetic Trees/Animal Genes : TreeFamKCNQ3
HOGENOMO43525
Homologs : HomoloGeneKCNQ3
Homology/Alignments : Family Browser (UCSC)KCNQ3
Gene fusions - Rearrangements
Fusion : QuiverKCNQ3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNQ3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNQ3
dbVarKCNQ3
ClinVarKCNQ3
1000_GenomesKCNQ3 
Exome Variant ServerKCNQ3
ExAC (Exome Aggregation Consortium)ENSG00000184156
GNOMAD BrowserENSG00000184156
Varsome BrowserKCNQ3
Genetic variants : HAPMAP3786
Genomic Variants (DGV)KCNQ3 [DGVbeta]
DECIPHERKCNQ3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNQ3 
Mutations
ICGC Data PortalKCNQ3 
TCGA Data PortalKCNQ3 
Broad Tumor PortalKCNQ3
OASIS PortalKCNQ3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNQ3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNQ3
Mutations and Diseases : HGMDKCNQ3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch KCNQ3
DgiDB (Drug Gene Interaction Database)KCNQ3
DoCM (Curated mutations)KCNQ3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNQ3 (select a term)
intoGenKCNQ3
Cancer3DKCNQ3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121201    602232   
Orphanet102    990    3651   
DisGeNETKCNQ3
MedgenKCNQ3
Genetic Testing Registry KCNQ3
NextProtO43525 [Medical]
TSGene3786
GENETestsKCNQ3
Target ValidationKCNQ3
Huge Navigator KCNQ3 [HugePedia]
snp3D : Map Gene to Disease3786
BioCentury BCIQKCNQ3
ClinGenKCNQ3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3786
Chemical/Pharm GKB GenePA30075
Clinical trialKCNQ3
Miscellaneous
canSAR (ICR)KCNQ3 (select the gene name)
DataMed IndexKCNQ3
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNQ3
EVEXKCNQ3
GoPubMedKCNQ3
iHOPKCNQ3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:49:22 CET 2019
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