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

Identity

Alias_namespotassium large conductance calcium-activated channel, subfamily M, beta member 1
potassium channel subfamily M regulatory beta subunit 1
Alias_symbol (synonym)hslo-beta
Other aliasBKbeta1
K(VCA)beta
SLO-BETA
hbeta1
k(VCA)beta-1
slo-beta-1
HGNC (Hugo) KCNMB1
LocusID (NCBI) 3779
Atlas_Id 41050
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 169805165 and ends at 169816681 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


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]  chr5:169805165-169816681 [Contig_View]  KCNMB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145936 [Gene_View]  chr5:169805165-169816681 [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 hg19 (UCSC)KCNMB1  -     chr5:169805165-169816681 -  5q35.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNMB1  -     5q35.1   [Description]    (hg38-Dec_2013)
EnsemblKCNMB1 - 5q35.1 [CytoView hg19]  KCNMB1 - 5q35.1 [CytoView hg38]
Mapping of homologs : NCBIKCNMB1 [Mapview hg19]  KCNMB1 [Mapview hg38]
OMIM603951   608622   
Gene and transcription
Genbank (Entrez)AA464625 AF026002 AK313979 AY044441 AY515264
RefSeq transcript (Entrez)NM_004137
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011452 NG_011538 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)KCNMB1
Cluster EST : UnigeneHs.744947 [ NCBI ]
CGAP (NCI)Hs.744947
Alternative Splicing GalleryENSG00000145936
Gene ExpressionKCNMB1 [ NCBI-GEO ]   KCNMB1 [ EBI - ARRAY_EXPRESS ]   KCNMB1 [ SEEK ]   KCNMB1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNMB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3779
GTEX Portal (Tissue expression)KCNMB1
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 AtlasENSG00000145936
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  synaptic transmission  voltage-gated potassium channel complex  calcium-activated potassium channel activity  potassium channel regulator activity  potassium ion transmembrane transport  potassium ion transmembrane transport  
Ontology : EGO-EBIdetection of calcium ion  plasma membrane  potassium ion transport  synaptic transmission  voltage-gated potassium channel complex  calcium-activated potassium channel activity  potassium channel regulator activity  potassium ion transmembrane transport  potassium ion transmembrane transport  
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
HOVERGENQ16558
HOGENOMQ16558
Homologs : HomoloGeneKCNMB1
Homology/Alignments : Family Browser (UCSC)KCNMB1
Gene fusions - Rearrangements
Fusion : MitelmanLMBRD2/KCNMB1 [5p13.2/5q35.1]  [t(5;5)(p13;q35)]  
Fusion: TCGALMBRD2 5p13.2 KCNMB1 5q35.1 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNMB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNMB1
dbVarKCNMB1
ClinVarKCNMB1
1000_GenomesKCNMB1 
Exome Variant ServerKCNMB1
ExAC (Exome Aggregation Consortium)KCNMB1 (select the gene name)
Genetic variants : HAPMAP3779
Genomic Variants (DGV)KCNMB1 [DGVbeta]
DECIPHER (Syndromes)5:169805165-169816681  ENSG00000145936
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603951    608622   
Orphanet
MedgenKCNMB1
Genetic Testing Registry KCNMB1
NextProtQ16558 [Medical]
TSGene3779
GENETestsKCNMB1
Huge Navigator KCNMB1 [HugePedia]
snp3D : Map Gene to Disease3779
BioCentury BCIQKCNMB1
ClinGenKCNMB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3779
Chemical/Pharm GKB GenePA221
Clinical trialKCNMB1
Miscellaneous
canSAR (ICR)KCNMB1 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNMB1
EVEXKCNMB1
GoPubMedKCNMB1
iHOPKCNMB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:35 CET 2017

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