Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNQ2 (potassium voltage-gated channel subfamily Q member 2)

Identity

Alias_namesEBN
EBN1
potassium voltage-gated channel, KQT-like subfamily, member 2
potassium channel, voltage gated KQT-like subfamily Q, member 2
Alias_symbol (synonym)Kv7.2
ENB1
BFNC
KCNA11
HNSPC
Other aliasKV7.2
HGNC (Hugo) KCNQ2
LocusID (NCBI) 3785
Atlas_Id 54856
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 63433679 and ends at 63472677 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)
IL4I1 (19q13.33) / KCNQ2 (20q13.33)KCNQ2 (20q13.33) / ATP6V0B (1p34.1)IL4I1 19q13.33 / KCNQ2 20q13.33

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(19;20)(q13;q13) IL4I1/KCNQ2

External links

Nomenclature
HGNC (Hugo)KCNQ2   6296
Cards
Entrez_Gene (NCBI)KCNQ2  3785  potassium voltage-gated channel subfamily Q member 2
AliasesBFNC; EBN; EBN1; ENB1; 
HNSPC; KCNA11; KV7.2
GeneCards (Weizmann)KCNQ2
Ensembl hg19 (Hinxton)ENSG00000075043 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075043 [Gene_View]  ENSG00000075043 [Sequence]  chr20:63433679-63472677 [Contig_View]  KCNQ2 [Vega]
ICGC DataPortalENSG00000075043
TCGA cBioPortalKCNQ2
AceView (NCBI)KCNQ2
Genatlas (Paris)KCNQ2
WikiGenes3785
SOURCE (Princeton)KCNQ2
Genetics Home Reference (NIH)KCNQ2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNQ2  -     chr20:63433679-63472677 -  20q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNQ2  -     20q13.33   [Description]    (hg19-Feb_2009)
GoldenPathKCNQ2 - 20q13.33 [CytoView hg19]  KCNQ2 - 20q13.33 [CytoView hg38]
ImmunoBaseENSG00000075043
Mapping of homologs : NCBIKCNQ2 [Mapview hg19]  KCNQ2 [Mapview hg38]
OMIM121200   602235   613720   
Gene and transcription
Genbank (Entrez)AF033348 AF074247 AF110020 AK293727 AY358189
RefSeq transcript (Entrez)NM_004518 NM_172106 NM_172107 NM_172108 NM_172109
RefSeq genomic (Entrez)NC_000020 NG_009004 NT_187625
Consensus coding sequences : CCDS (NCBI)KCNQ2
Cluster EST : UnigeneHs.652468 [ NCBI ]
CGAP (NCI)Hs.652468
Alternative Splicing GalleryENSG00000075043
Gene ExpressionKCNQ2 [ NCBI-GEO ]   KCNQ2 [ EBI - ARRAY_EXPRESS ]   KCNQ2 [ SEEK ]   KCNQ2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNQ2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3785
GTEX Portal (Tissue expression)KCNQ2
Human Protein AtlasENSG00000075043-KCNQ2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43526   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43526  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43526
Splice isoforms : SwissVarO43526
PhosPhoSitePlusO43526
Domains : Interpro (EBI)Ankyrin-G_BS    Ion_trans_dom    K_chnl_volt-dep_KCNQ    K_chnl_volt-dep_KCNQ2    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)KCNQ2
DMDM Disease mutations3785
Blocks (Seattle)KCNQ2
PDB (RSDB)5J03    6FEG    6FEH   
PDB Europe5J03    6FEG    6FEH   
PDB (PDBSum)5J03    6FEG    6FEH   
PDB (IMB)5J03    6FEG    6FEH   
Structural Biology KnowledgeBase5J03    6FEG    6FEH   
SCOP (Structural Classification of Proteins)5J03    6FEG    6FEH   
CATH (Classification of proteins structures)5J03    6FEG    6FEH   
SuperfamilyO43526
Human Protein Atlas [tissue]ENSG00000075043-KCNQ2 [tissue]
Peptide AtlasO43526
HPRD03757
IPIIPI00012858   IPI00217647   IPI00217648   IPI00328286   IPI00217649   IPI00217650   IPI00478707   IPI00644572   IPI00432742   IPI00745597   IPI00646018   IPI00478144   IPI00386577   
Protein Interaction databases
DIP (DOE-UCLA)O43526
IntAct (EBI)O43526
FunCoupENSG00000075043
BioGRIDKCNQ2
STRING (EMBL)KCNQ2
ZODIACKCNQ2
Ontologies - Pathways
QuickGOO43526
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  nervous system development  voltage-gated potassium channel complex  voltage-gated potassium channel complex  integral component of membrane  ankyrin binding  node of Ranvier  regulation of ion transmembrane transport  axon initial segment  axon initial segment  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  nervous system development  voltage-gated potassium channel complex  voltage-gated potassium channel complex  integral component of membrane  ankyrin binding  node of Ranvier  regulation of ion transmembrane transport  axon initial segment  axon initial segment  potassium ion transmembrane transport  potassium ion transmembrane transport  
Pathways : KEGGCholinergic synapse   
NDEx NetworkKCNQ2
Atlas of Cancer Signalling NetworkKCNQ2
Wikipedia pathwaysKCNQ2
Orthology - Evolution
OrthoDB3785
GeneTree (enSembl)ENSG00000075043
Phylogenetic Trees/Animal Genes : TreeFamKCNQ2
HOGENOMO43526
Homologs : HomoloGeneKCNQ2
Homology/Alignments : Family Browser (UCSC)KCNQ2
Gene fusions - Rearrangements
Fusion : MitelmanIL4I1/KCNQ2 [19q13.33/20q13.33]  [t(19;20)(q13;q13)]  
Fusion PortalIL4I1 19q13.33 KCNQ2 20q13.33 BRCA
Fusion : QuiverKCNQ2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNQ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNQ2
dbVarKCNQ2
ClinVarKCNQ2
1000_GenomesKCNQ2 
Exome Variant ServerKCNQ2
ExAC (Exome Aggregation Consortium)ENSG00000075043
GNOMAD BrowserENSG00000075043
Varsome BrowserKCNQ2
Genetic variants : HAPMAP3785
Genomic Variants (DGV)KCNQ2 [DGVbeta]
DECIPHERKCNQ2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNQ2 
Mutations
ICGC Data PortalKCNQ2 
TCGA Data PortalKCNQ2 
Broad Tumor PortalKCNQ2
OASIS PortalKCNQ2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNQ2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNQ2
Mutations and Diseases : HGMDKCNQ2
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KCNQ2
DgiDB (Drug Gene Interaction Database)KCNQ2
DoCM (Curated mutations)KCNQ2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNQ2 (select a term)
intoGenKCNQ2
Cancer3DKCNQ2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121200    602235    613720   
Orphanet990    17000    3651    23381   
DisGeNETKCNQ2
MedgenKCNQ2
Genetic Testing Registry KCNQ2
NextProtO43526 [Medical]
TSGene3785
GENETestsKCNQ2
Target ValidationKCNQ2
Huge Navigator KCNQ2 [HugePedia]
snp3D : Map Gene to Disease3785
BioCentury BCIQKCNQ2
ClinGenKCNQ2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3785
Chemical/Pharm GKB GenePA30074
Clinical trialKCNQ2
Miscellaneous
canSAR (ICR)KCNQ2 (select the gene name)
DataMed IndexKCNQ2
Probes
Litterature
PubMed139 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNQ2
EVEXKCNQ2
GoPubMedKCNQ2
iHOPKCNQ2
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 17:49:21 CET 2019
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