Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNMB2 (potassium calcium-activated channel subfamily M regulatory beta subunit 2)

Identity

Alias_namespotassium large conductance calcium-activated channel, subfamily M, beta member 2
potassium channel subfamily M regulatory beta subunit 2
Other alias-
HGNC (Hugo) KCNMB2
LocusID (NCBI) 10242
Atlas_Id 54395
Location 3q26.32  [Link to chromosome band 3q26]
Location_base_pair Starts at 178558700 and ends at 178844429 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)
KCNMB2 (3q26.32) / NRXN1 (2p16.3)

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)KCNMB2   6286
Cards
Entrez_Gene (NCBI)KCNMB2  10242  potassium calcium-activated channel subfamily M regulatory beta subunit 2
Aliases
GeneCards (Weizmann)KCNMB2
Ensembl hg19 (Hinxton)ENSG00000197584 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197584 [Gene_View]  chr3:178558700-178844429 [Contig_View]  KCNMB2 [Vega]
ICGC DataPortalENSG00000197584
TCGA cBioPortalKCNMB2
AceView (NCBI)KCNMB2
Genatlas (Paris)KCNMB2
WikiGenes10242
SOURCE (Princeton)KCNMB2
Genetics Home Reference (NIH)KCNMB2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNMB2  -     chr3:178558700-178844429 +  3q26.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNMB2  -     3q26.32   [Description]    (hg19-Feb_2009)
EnsemblKCNMB2 - 3q26.32 [CytoView hg19]  KCNMB2 - 3q26.32 [CytoView hg38]
Mapping of homologs : NCBIKCNMB2 [Mapview hg19]  KCNMB2 [Mapview hg38]
OMIM605214   
Gene and transcription
Genbank (Entrez)AA904191 AB193524 AB193525 AB193526 AB193527
RefSeq transcript (Entrez)NM_001278911 NM_005832 NM_181361
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNMB2
Cluster EST : UnigeneHs.478368 [ NCBI ]
CGAP (NCI)Hs.478368
Alternative Splicing GalleryENSG00000197584
Gene ExpressionKCNMB2 [ NCBI-GEO ]   KCNMB2 [ EBI - ARRAY_EXPRESS ]   KCNMB2 [ SEEK ]   KCNMB2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNMB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10242
GTEX Portal (Tissue expression)KCNMB2
Human Protein AtlasENSG00000197584-KCNMB2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y691   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y691  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y691
Splice isoforms : SwissVarQ9Y691
PhosPhoSitePlusQ9Y691
Domains : Interpro (EBI)K_chnl_Ca-activ_BK_bsu    KCNMB2_ball_chain_dom   
Domain families : Pfam (Sanger)CaKB (PF03185)    KcnmB2_inactiv (PF09303)   
Domain families : Pfam (NCBI)pfam03185    pfam09303   
Conserved Domain (NCBI)KCNMB2
DMDM Disease mutations10242
Blocks (Seattle)KCNMB2
PDB (SRS)1JO6   
PDB (PDBSum)1JO6   
PDB (IMB)1JO6   
PDB (RSDB)1JO6   
Structural Biology KnowledgeBase1JO6   
SCOP (Structural Classification of Proteins)1JO6   
CATH (Classification of proteins structures)1JO6   
SuperfamilyQ9Y691
Human Protein Atlas [tissue]ENSG00000197584-KCNMB2 [tissue]
Peptide AtlasQ9Y691
HPRD05557
IPIIPI01009405   IPI00914023   IPI00941603   IPI00411546   IPI00925254   IPI00927435   IPI00926785   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y691
IntAct (EBI)Q9Y691
FunCoupENSG00000197584
BioGRIDKCNMB2
STRING (EMBL)KCNMB2
ZODIACKCNMB2
Ontologies - Pathways
QuickGOQ9Y691
Ontology : AmiGOaction potential  detection of calcium ion  plasma membrane  integral component of plasma membrane  potassium ion transport  chemical synaptic transmission  voltage-gated potassium channel complex  ion channel inhibitor activity  calcium-activated potassium channel activity  potassium channel regulator activity  neuronal action potential  regulation of vasoconstriction  regulation of molecular function  potassium ion transmembrane transport  
Ontology : EGO-EBIaction potential  detection of calcium ion  plasma membrane  integral component of plasma membrane  potassium ion transport  chemical synaptic transmission  voltage-gated potassium channel complex  ion channel inhibitor activity  calcium-activated potassium channel activity  potassium channel regulator activity  neuronal action potential  regulation of vasoconstriction  regulation of molecular function  potassium ion transmembrane transport  
Pathways : KEGGVascular smooth muscle contraction    Insulin secretion   
NDEx NetworkKCNMB2
Atlas of Cancer Signalling NetworkKCNMB2
Wikipedia pathwaysKCNMB2
Orthology - Evolution
OrthoDB10242
GeneTree (enSembl)ENSG00000197584
Phylogenetic Trees/Animal Genes : TreeFamKCNMB2
HOVERGENQ9Y691
HOGENOMQ9Y691
Homologs : HomoloGeneKCNMB2
Homology/Alignments : Family Browser (UCSC)KCNMB2
Gene fusions - Rearrangements
Fusion : MitelmanKCNMB2/NRXN1 [3q26.32/2p16.3]  
Fusion: Tumor Portal KCNMB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNMB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNMB2
dbVarKCNMB2
ClinVarKCNMB2
1000_GenomesKCNMB2 
Exome Variant ServerKCNMB2
ExAC (Exome Aggregation Consortium)ENSG00000197584
GNOMAD BrowserENSG00000197584
Genetic variants : HAPMAP10242
Genomic Variants (DGV)KCNMB2 [DGVbeta]
DECIPHERKCNMB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNMB2 
Mutations
ICGC Data PortalKCNMB2 
TCGA Data PortalKCNMB2 
Broad Tumor PortalKCNMB2
OASIS PortalKCNMB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNMB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNMB2
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 KCNMB2
DgiDB (Drug Gene Interaction Database)KCNMB2
DoCM (Curated mutations)KCNMB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNMB2 (select a term)
intoGenKCNMB2
Cancer3DKCNMB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605214   
Orphanet
MedgenKCNMB2
Genetic Testing Registry KCNMB2
NextProtQ9Y691 [Medical]
TSGene10242
GENETestsKCNMB2
Target ValidationKCNMB2
Huge Navigator KCNMB2 [HugePedia]
snp3D : Map Gene to Disease10242
BioCentury BCIQKCNMB2
ClinGenKCNMB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10242
Chemical/Pharm GKB GenePA30066
Clinical trialKCNMB2
Miscellaneous
canSAR (ICR)KCNMB2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNMB2
EVEXKCNMB2
GoPubMedKCNMB2
iHOPKCNMB2
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 : Thu Nov 9 12:55:12 CET 2017

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