Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1)

Identity

Alias (NCBI)BKbeta1
K(VCA)beta
SLO-BETA
hbeta1
hslo-beta
k(VCA)beta-1
slo-beta-1
HGNC (Hugo) KCNMB1
HGNC Alias symbhslo-beta
HGNC Alias nameBK channel beta subunit 1
 MaxiK channel beta-subunit 1
 big potassium channel beta subunit 1
HGNC Previous namepotassium large conductance calcium-activated channel, subfamily M, beta member 1
 potassium channel subfamily M regulatory beta subunit 1
LocusID (NCBI) 3779
Atlas_Id 41050
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 170374671 and ends at 170389367 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)
LMBRD2 (5p13.2) / KCNMB1 (5q35.1)LMBRD2 5p13.2 / KCNMB1 5q35.1

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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;5)(p13;q35) LMBRD2/KCNMB1


External links

Nomenclature
HGNC (Hugo)KCNMB1   6285
Cards
Entrez_Gene (NCBI)KCNMB1  3779  potassium calcium-activated channel subfamily M regulatory beta subunit 1
AliasesBKbeta1; K(VCA)beta; SLO-BETA; hbeta1; 
hslo-beta; k(VCA)beta-1; slo-beta-1
GeneCards (Weizmann)KCNMB1
Ensembl hg19 (Hinxton)ENSG00000145936 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145936 [Gene_View]  ENSG00000145936 [Sequence]  chr5:170374671-170389367 [Contig_View]  KCNMB1 [Vega]
ICGC DataPortalENSG00000145936
TCGA cBioPortalKCNMB1
AceView (NCBI)KCNMB1
Genatlas (Paris)KCNMB1
WikiGenes3779
SOURCE (Princeton)KCNMB1
Genetics Home Reference (NIH)KCNMB1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNMB1  -     chr5:170374671-170389367 -  5q35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNMB1  -     5q35.1   [Description]    (hg19-Feb_2009)
GoldenPathKCNMB1 - 5q35.1 [CytoView hg19]  KCNMB1 - 5q35.1 [CytoView hg38]
ImmunoBaseENSG00000145936
genome Data Viewer NCBIKCNMB1 [Mapview hg19]  
OMIM603951   608622   
Gene and transcription
Genbank (Entrez)AA464625 AF026002 AK313979 AY044441 AY515264
RefSeq transcript (Entrez)NM_004137
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNMB1
Alternative Splicing GalleryENSG00000145936
Gene ExpressionKCNMB1 [ NCBI-GEO ]   KCNMB1 [ EBI - ARRAY_EXPRESS ]   KCNMB1 [ SEEK ]   KCNMB1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNMB1 [ Firebrowse - Broad ]
GenevisibleExpression of KCNMB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3779
GTEX Portal (Tissue expression)KCNMB1
Human Protein AtlasENSG00000145936-KCNMB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16558   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16558  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16558
Splice isoforms : SwissVarQ16558
PhosPhoSitePlusQ16558
Domains : Interpro (EBI)K_chnl_Ca-activ_BK_bsu   
Domain families : Pfam (Sanger)CaKB (PF03185)   
Domain families : Pfam (NCBI)pfam03185   
Conserved Domain (NCBI)KCNMB1
DMDM Disease mutations3779
Blocks (Seattle)KCNMB1
SuperfamilyQ16558
Human Protein Atlas [tissue]ENSG00000145936-KCNMB1 [tissue]
Peptide AtlasQ16558
HPRD10358
IPIIPI00828136   IPI00748067   
Protein Interaction databases
DIP (DOE-UCLA)Q16558
IntAct (EBI)Q16558
FunCoupENSG00000145936
BioGRIDKCNMB1
STRING (EMBL)KCNMB1
ZODIACKCNMB1
Ontologies - Pathways
QuickGOQ16558
Ontology : AmiGOdetection of calcium ion  plasma membrane  potassium ion transport  chemical synaptic transmission  aging  voltage-gated potassium channel complex  calcium-activated potassium channel activity  potassium channel regulator activity  synapse  cellular response to ethanol  cellular response to hypoxia  potassium ion transmembrane transport  positive regulation of blood vessel diameter  positive regulation of potassium ion transmembrane transport  cellular response to bile acid  
Ontology : EGO-EBIdetection of calcium ion  plasma membrane  potassium ion transport  chemical synaptic transmission  aging  voltage-gated potassium channel complex  calcium-activated potassium channel activity  potassium channel regulator activity  synapse  cellular response to ethanol  cellular response to hypoxia  potassium ion transmembrane transport  positive regulation of blood vessel diameter  positive regulation of potassium ion transmembrane transport  cellular response to bile acid  
Pathways : KEGGVascular smooth muscle contraction    Insulin secretion   
NDEx NetworkKCNMB1
Atlas of Cancer Signalling NetworkKCNMB1
Wikipedia pathwaysKCNMB1
Orthology - Evolution
OrthoDB3779
GeneTree (enSembl)ENSG00000145936
Phylogenetic Trees/Animal Genes : TreeFamKCNMB1
HOGENOMQ16558
Homologs : HomoloGeneKCNMB1
Homology/Alignments : Family Browser (UCSC)KCNMB1
Gene fusions - Rearrangements
Fusion : MitelmanLMBRD2/KCNMB1 [5p13.2/5q35.1]  
Fusion PortalLMBRD2 5p13.2 KCNMB1 5q35.1 LGG
Fusion : QuiverKCNMB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNMB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNMB1
dbVarKCNMB1
ClinVarKCNMB1
MonarchKCNMB1
1000_GenomesKCNMB1 
Exome Variant ServerKCNMB1
GNOMAD BrowserENSG00000145936
Varsome BrowserKCNMB1
Genetic variants : HAPMAP3779
Genomic Variants (DGV)KCNMB1 [DGVbeta]
DECIPHERKCNMB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNMB1 
Mutations
ICGC Data PortalKCNMB1 
TCGA Data PortalKCNMB1 
Broad Tumor PortalKCNMB1
OASIS PortalKCNMB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNMB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNMB1
Mutations and Diseases : HGMDKCNMB1
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 KCNMB1
DgiDB (Drug Gene Interaction Database)KCNMB1
DoCM (Curated mutations)KCNMB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNMB1 (select a term)
intoGenKCNMB1
Cancer3DKCNMB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603951    608622   
Orphanet
DisGeNETKCNMB1
MedgenKCNMB1
Genetic Testing Registry KCNMB1
NextProtQ16558 [Medical]
TSGene3779
GENETestsKCNMB1
Target ValidationKCNMB1
Huge Navigator KCNMB1 [HugePedia]
snp3D : Map Gene to Disease3779
BioCentury BCIQKCNMB1
ClinGenKCNMB1
Clinical trials, drugs, therapy
Protein Interactions : CTD3779
Pharm GKB GenePA221
Clinical trialKCNMB1
Miscellaneous
canSAR (ICR)KCNMB1 (select the gene name)
HarmonizomeKCNMB1
DataMed IndexKCNMB1
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNMB1
EVEXKCNMB1
GoPubMedKCNMB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:16:38 CEST 2020

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