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CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1)

Identity

Alias (NCBI)CAB1
CACNLB1
CCHLB1
HGNC (Hugo) CACNB1
HGNC Previous nameCACNLB1
HGNC Previous namecalcium channel, voltage-dependent, beta 1 subunit
LocusID (NCBI) 782
Atlas_Id 57793
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 39177136 and ends at 39197669 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)
CACNB1 (17q12) / CDC6 (17q21.2)CACNB1 (17q12) / EMSY (11q13.5)CACNB1 (17q12) / KRT40 (17q21.2)
CACNB1 (17q12) / MLLT6 (17q12)

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) [ 2 ]
  t(17;17)(q12;q21) CACNB1/CDC6
t(17;17)(q12;q21) CACNB1/KRT40

External links

Nomenclature
HGNC (Hugo)CACNB1   1401
Cards
Entrez_Gene (NCBI)CACNB1  782  calcium voltage-gated channel auxiliary subunit beta 1
AliasesCAB1; CACNLB1; CCHLB1
GeneCards (Weizmann)CACNB1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr17:39177136-39197669 [Contig_View]  CACNB1 [Vega]
TCGA cBioPortalCACNB1
AceView (NCBI)CACNB1
Genatlas (Paris)CACNB1
WikiGenes782
SOURCE (Princeton)CACNB1
Genetics Home Reference (NIH)CACNB1
Genomic and cartography
GoldenPath hg38 (UCSC)CACNB1  -     chr17:39177136-39197669 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNB1  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathCACNB1 - 17q12 [CytoView hg19]  CACNB1 - 17q12 [CytoView hg38]
genome Data Viewer NCBICACNB1 [Mapview hg19]  
OMIM114207   
Gene and transcription
Genbank (Entrez)AA694045 AB054985 AB209176 AK127283 AK289729
RefSeq transcript (Entrez)NM_000723 NM_199247 NM_199248
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNB1
Gene ExpressionCACNB1 [ NCBI-GEO ]   CACNB1 [ EBI - ARRAY_EXPRESS ]   CACNB1 [ SEEK ]   CACNB1 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNB1 [ Firebrowse - Broad ]
GenevisibleExpression of CACNB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)782
GTEX Portal (Tissue expression)CACNB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02641   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02641  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02641
Splice isoforms : SwissVarQ02641
PhosPhoSitePlusQ02641
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    P-loop_NTPase    SH3-like_dom_sf    SH3_domain    VDCC_L_b1su    VDCC_L_bsu   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)    VGCC_beta4Aa_N (PF12052)   
Domain families : Pfam (NCBI)pfam00625    pfam12052   
Domain families : Smart (EMBL)GuKc (SM00072)  
Conserved Domain (NCBI)CACNB1
DMDM Disease mutations782
Blocks (Seattle)CACNB1
SuperfamilyQ02641
Peptide AtlasQ02641
IPIIPI00183965   IPI00219983   IPI00219984   IPI01015095   IPI01015492   
Protein Interaction databases
DIP (DOE-UCLA)Q02641
IntAct (EBI)Q02641
BioGRIDCACNB1
STRING (EMBL)CACNB1
ZODIACCACNB1
Ontologies - Pathways
QuickGOQ02641
Ontology : AmiGOvoltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  chemical synaptic transmission  neuromuscular junction development  high voltage-gated calcium channel activity  sarcolemma  synapse  cardiac conduction  calcium ion transmembrane transport  regulation of voltage-gated calcium channel activity  regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  cellular response to amyloid-beta  
Ontology : EGO-EBIvoltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  chemical synaptic transmission  neuromuscular junction development  high voltage-gated calcium channel activity  sarcolemma  synapse  cardiac conduction  calcium ion transmembrane transport  regulation of voltage-gated calcium channel activity  regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  cellular response to amyloid-beta  
Pathways : KEGGMAPK signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNB1
Atlas of Cancer Signalling NetworkCACNB1
Wikipedia pathwaysCACNB1
Orthology - Evolution
OrthoDB782
Phylogenetic Trees/Animal Genes : TreeFamCACNB1
HOGENOMQ02641
Homologs : HomoloGeneCACNB1
Homology/Alignments : Family Browser (UCSC)CACNB1
Gene fusions - Rearrangements
Fusion : QuiverCACNB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNB1
dbVarCACNB1
ClinVarCACNB1
MonarchCACNB1
1000_GenomesCACNB1 
Exome Variant ServerCACNB1
Varsome BrowserCACNB1
Genetic variants : HAPMAP782
Genomic Variants (DGV)CACNB1 [DGVbeta]
DECIPHERCACNB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNB1 
Mutations
ICGC Data PortalCACNB1 
TCGA Data PortalCACNB1 
Broad Tumor PortalCACNB1
OASIS PortalCACNB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCACNB1
Mutations and Diseases : HGMDCACNB1
BioMutasearch CACNB1
DgiDB (Drug Gene Interaction Database)CACNB1
DoCM (Curated mutations)CACNB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNB1 (select a term)
intoGenCACNB1
Cancer3DCACNB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114207   
Orphanet
DisGeNETCACNB1
MedgenCACNB1
Genetic Testing Registry CACNB1
NextProtQ02641 [Medical]
TSGene782
GENETestsCACNB1
Target ValidationCACNB1
Huge Navigator CACNB1 [HugePedia]
snp3D : Map Gene to Disease782
BioCentury BCIQCACNB1
ClinGenCACNB1
Clinical trials, drugs, therapy
Protein Interactions : CTD782
Pharm GKB GenePA87
Pharm GKB PathwaysPA152241951   PA166122732   
Clinical trialCACNB1
Miscellaneous
canSAR (ICR)CACNB1 (select the gene name)
HarmonizomeCACNB1
DataMed IndexCACNB1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNB1
EVEXCACNB1
GoPubMedCACNB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:04:05 CEST 2020
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