Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Alias (NCBI)BFNC
DEE7
EBN
EBN1
ENB1
HNSPC
KCNA11
KV7.2
HGNC (Hugo) KCNQ2
HGNC Alias symbKv7.2
ENB1
BFNC
KCNA11
HNSPC
HGNC Previous nameEBN
 EBN1
HGNC Previous namepotassium voltage-gated channel, KQT-like subfamily, member 2
 potassium channel, voltage gated KQT-like subfamily Q, member 2
LocusID (NCBI) 3785
Atlas_Id 54856
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 63433678 and ends at 63472655 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

 



External links

 

Nomenclature
HGNC (Hugo)KCNQ2   6296
Cards
Entrez_Gene (NCBI)KCNQ2    potassium voltage-gated channel subfamily Q member 2
AliasesBFNC; DEE7; EBN; EBN1; 
ENB1; HNSPC; KCNA11; KV7.2
GeneCards (Weizmann)KCNQ2
Ensembl hg19 (Hinxton)ENSG00000075043 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075043 [Gene_View]  ENSG00000075043 [Sequence]  chr20:63433678-63472655 [Contig_View]  KCNQ2 [Vega]
ICGC DataPortalENSG00000075043
TCGA cBioPortalKCNQ2
AceView (NCBI)KCNQ2
Genatlas (Paris)KCNQ2
SOURCE (Princeton)KCNQ2
Genetics Home Reference (NIH)KCNQ2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNQ2  -     chr20:63433678-63472655 -  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
Genome Data Viewer NCBIKCNQ2 [Mapview hg19]  
OMIM121200   602235   613720   
Gene and transcription
Genbank (Entrez)AF033348 AF074247 AF110020 AK293727 AY358189
RefSeq transcript (Entrez)NM_001382235 NM_004518 NM_172106 NM_172107 NM_172108 NM_172109
Consensus coding sequences : CCDS (NCBI)KCNQ2
Gene ExpressionKCNQ2 [ NCBI-GEO ]   KCNQ2 [ EBI - ARRAY_EXPRESS ]   KCNQ2 [ SEEK ]   KCNQ2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNQ2 [ Firebrowse - Broad ]
GenevisibleExpression of KCNQ2 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
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
PDB (RSDB)5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
PDB Europe5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
PDB (PDBSum)5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
PDB (IMB)5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
Structural Biology KnowledgeBase5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
SCOP (Structural Classification of Proteins)5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
CATH (Classification of proteins structures)5J03    6FEG    6FEH    7CR0    7CR1    7CR2    7CR3    7CR4    7CR7   
SuperfamilyO43526
AlphaFold pdb e-kbO43526   
Human Protein Atlas [tissue]ENSG00000075043-KCNQ2 [tissue]
HPRD03757
Protein Interaction databases
DIP (DOE-UCLA)O43526
IntAct (EBI)O43526
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  synapse  potassium ion transmembrane transport  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  synapse  potassium ion transmembrane transport  potassium ion transmembrane transport  potassium ion transmembrane transport  
Pathways : BIOCARTAIon Channels and Their Functional Role in Vascular Endothelium [Genes]   
Pathways : KEGGCholinergic synapse   
NDEx NetworkKCNQ2
Atlas of Cancer Signalling NetworkKCNQ2
Wikipedia pathwaysKCNQ2
Orthology - Evolution
OrthoDB3785
GeneTree (enSembl)ENSG00000075043
Phylogenetic Trees/Animal Genes : TreeFamKCNQ2
Homologs : HomoloGeneKCNQ2
Homology/Alignments : Family Browser (UCSC)KCNQ2
Gene fusions - Rearrangements
Fusion : MitelmanIL4I1/KCNQ2 [19q13.33/20q13.33]  
Fusion : QuiverKCNQ2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNQ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNQ2
dbVarKCNQ2
ClinVarKCNQ2
MonarchKCNQ2
1000_GenomesKCNQ2 
Exome Variant ServerKCNQ2
GNOMAD BrowserENSG00000075043
Varsome BrowserKCNQ2
ACMGKCNQ2 variants
VarityO43526
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)[gene] [transcripts] [variants]
BioMutaKCNQ2
DgiDB (Drug Gene Interaction Database)KCNQ2
DoCM (Curated mutations)KCNQ2
CIViC (Clinical Interpretations of Variants in Cancer)KCNQ2
Cancer3DKCNQ2
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]
GENETestsKCNQ2
Target ValidationKCNQ2
Huge Navigator KCNQ2 [HugePedia]
ClinGenKCNQ2 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeKCNQ2
Protein Interactions : CTDKCNQ2
Pharm GKB GenePA30074
Pharm GKB PathwaysPA152241951   
PharosO43526
Clinical trialKCNQ2
Miscellaneous
canSAR (ICR)KCNQ2
HarmonizomeKCNQ2
DataMed IndexKCNQ2
Probes
Litterature
PubMed154 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKCNQ2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:14:46 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.