Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNAB2 (potassium voltage-gated channel subfamily A regulatory beta subunit 2)

Identity

Alias_namespotassium voltage-gated channel, shaker-related subfamily, beta member 2
potassium channel, voltage gated subfamily A regulatory beta subunit 2
Alias_symbol (synonym)AKR6A5
KCNA2B
HKvbeta2.1
HKvbeta2.2
Other aliasHKvbeta2
KV-BETA-2
HGNC (Hugo) KCNAB2
LocusID (NCBI) 8514
Atlas_Id 64762
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 6034288 and ends at 6101193 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCNAB2 (1p36.31) / KCNAB2 (1p36.31)KCNAB2 (1p36.31) / KIF1B (1p36.22)KCNAB2 (1p36.31) / PDLIM7 (5q35.3)
KCNAB2 (1p36.31) / POLB (8p11.21)

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)KCNAB2   6229
Cards
Entrez_Gene (NCBI)KCNAB2  8514  potassium voltage-gated channel subfamily A regulatory beta subunit 2
AliasesAKR6A5; HKvbeta2; HKvbeta2.1; HKvbeta2.2; 
KCNA2B; KV-BETA-2
GeneCards (Weizmann)KCNAB2
Ensembl hg19 (Hinxton)ENSG00000069424 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000069424 [Gene_View]  chr1:6034288-6101193 [Contig_View]  KCNAB2 [Vega]
ICGC DataPortalENSG00000069424
TCGA cBioPortalKCNAB2
AceView (NCBI)KCNAB2
Genatlas (Paris)KCNAB2
WikiGenes8514
SOURCE (Princeton)KCNAB2
Genetics Home Reference (NIH)KCNAB2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNAB2  -     chr1:6034288-6101193 +  1p36.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNAB2  -     1p36.31   [Description]    (hg19-Feb_2009)
EnsemblKCNAB2 - 1p36.31 [CytoView hg19]  KCNAB2 - 1p36.31 [CytoView hg38]
Mapping of homologs : NCBIKCNAB2 [Mapview hg19]  KCNAB2 [Mapview hg38]
OMIM601142   
Gene and transcription
Genbank (Entrez)AF029749 AF044253 AK124696 AK131252 AK289819
RefSeq transcript (Entrez)NM_001199860 NM_001199861 NM_001199862 NM_001199863 NM_003636 NM_172130
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNAB2
Cluster EST : UnigeneHs.735032 [ NCBI ]
CGAP (NCI)Hs.735032
Alternative Splicing GalleryENSG00000069424
Gene ExpressionKCNAB2 [ NCBI-GEO ]   KCNAB2 [ EBI - ARRAY_EXPRESS ]   KCNAB2 [ SEEK ]   KCNAB2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNAB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8514
GTEX Portal (Tissue expression)KCNAB2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13303   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13303  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13303
Splice isoforms : SwissVarQ13303
PhosPhoSitePlusQ13303
Domains : Interpro (EBI)K_chnl_volt-dep_bsu_KCNAB    K_chnl_volt-dep_bsu_KCNAB-rel    K_chnl_volt-dep_bsu_KCNAB2    NADP_OxRdtase_dom   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)KCNAB2
DMDM Disease mutations8514
Blocks (Seattle)KCNAB2
PDB (SRS)1ZSX   
PDB (PDBSum)1ZSX   
PDB (IMB)1ZSX   
PDB (RSDB)1ZSX   
Structural Biology KnowledgeBase1ZSX   
SCOP (Structural Classification of Proteins)1ZSX   
CATH (Classification of proteins structures)1ZSX   
SuperfamilyQ13303
Human Protein AtlasENSG00000069424
Peptide AtlasQ13303
HPRD03090
IPIIPI00021088   IPI00218374   IPI00442307   IPI00657651   IPI00978762   IPI00640445   IPI00941722   IPI00647716   IPI00642368   IPI00641902   
Protein Interaction databases
DIP (DOE-UCLA)Q13303
IntAct (EBI)Q13303
FunCoupENSG00000069424
BioGRIDKCNAB2
STRING (EMBL)KCNAB2
ZODIACKCNAB2
Ontologies - Pathways
QuickGOQ13303
Ontology : AmiGOhematopoietic progenitor cell differentiation  aldo-keto reductase (NADP) activity  voltage-gated potassium channel activity  cytosol  microtubule  plasma membrane  voltage-gated potassium channel complex  postsynaptic density  potassium channel regulator activity  membrane  cell junction  extrinsic component of cytoplasmic side of plasma membrane  specific granule membrane  neutrophil degranulation  axon terminus  juxtaparanode region of axon  juxtaparanode region of axon  neuromuscular process  oxidation-reduction process  regulation of molecular function  tertiary granule membrane  NADPH oxidation  potassium ion transmembrane transport  regulation of potassium ion transmembrane transport  pinceau fiber  regulation of protein localization to cell surface  
Ontology : EGO-EBIhematopoietic progenitor cell differentiation  aldo-keto reductase (NADP) activity  voltage-gated potassium channel activity  cytosol  microtubule  plasma membrane  voltage-gated potassium channel complex  postsynaptic density  potassium channel regulator activity  membrane  cell junction  extrinsic component of cytoplasmic side of plasma membrane  specific granule membrane  neutrophil degranulation  axon terminus  juxtaparanode region of axon  juxtaparanode region of axon  neuromuscular process  oxidation-reduction process  regulation of molecular function  tertiary granule membrane  NADPH oxidation  potassium ion transmembrane transport  regulation of potassium ion transmembrane transport  pinceau fiber  regulation of protein localization to cell surface  
NDEx NetworkKCNAB2
Atlas of Cancer Signalling NetworkKCNAB2
Wikipedia pathwaysKCNAB2
Orthology - Evolution
OrthoDB8514
GeneTree (enSembl)ENSG00000069424
Phylogenetic Trees/Animal Genes : TreeFamKCNAB2
HOVERGENQ13303
HOGENOMQ13303
Homologs : HomoloGeneKCNAB2
Homology/Alignments : Family Browser (UCSC)KCNAB2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNAB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNAB2
dbVarKCNAB2
ClinVarKCNAB2
1000_GenomesKCNAB2 
Exome Variant ServerKCNAB2
ExAC (Exome Aggregation Consortium)KCNAB2 (select the gene name)
Genetic variants : HAPMAP8514
Genomic Variants (DGV)KCNAB2 [DGVbeta]
DECIPHERKCNAB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNAB2 
Mutations
ICGC Data PortalKCNAB2 
TCGA Data PortalKCNAB2 
Broad Tumor PortalKCNAB2
OASIS PortalKCNAB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNAB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNAB2
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
BioMutasearch KCNAB2
DgiDB (Drug Gene Interaction Database)KCNAB2
DoCM (Curated mutations)KCNAB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNAB2 (select a term)
intoGenKCNAB2
Cancer3DKCNAB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601142   
Orphanet1738   
MedgenKCNAB2
Genetic Testing Registry KCNAB2
NextProtQ13303 [Medical]
TSGene8514
GENETestsKCNAB2
Target ValidationKCNAB2
Huge Navigator KCNAB2 [HugePedia]
snp3D : Map Gene to Disease8514
BioCentury BCIQKCNAB2
ClinGenKCNAB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8514
Chemical/Pharm GKB GenePA373
Clinical trialKCNAB2
Miscellaneous
canSAR (ICR)KCNAB2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNAB2
EVEXKCNAB2
GoPubMedKCNAB2
iHOPKCNAB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:54:02 CEST 2017

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