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CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2)

Identity

Alias_namesMYSB
CACNLB2
calcium channel, voltage-dependent, beta 2 subunit
Other aliasCAVB2
HGNC (Hugo) CACNB2
LocusID (NCBI) 783
Atlas_Id 61369
Location 10p12.33  [Link to chromosome band 10p12]
Location_base_pair Starts at 18260655 and ends at 18541759 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)
CACNB2 (10p12.33) / NUP98 (11p15.4)CACNB2 (10p12.33) / PCGF2 (17q12)CACNB2 (10p12.33) / SPARCL1 (4q22.1)
FAM188A (10p13) / CACNB2 (10p12.33)KLK3 (19q13.33) / CACNB2 (10p12.33)MAP9 (4q32.1) / CACNB2 (10p12.33)
PRPF18 (10p13) / CACNB2 (10p12.33)PTPRK (6q22.33) / CACNB2 (10p12.33)PRPF18 CACNB2
FAM188A CACNB2

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)CACNB2   1402
LRG (Locus Reference Genomic)LRG_381
Cards
Entrez_Gene (NCBI)CACNB2  783  calcium voltage-gated channel auxiliary subunit beta 2
AliasesCACNLB2; CAVB2; MYSB
GeneCards (Weizmann)CACNB2
Ensembl hg19 (Hinxton)ENSG00000165995 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165995 [Gene_View]  chr10:18260655-18541759 [Contig_View]  CACNB2 [Vega]
ICGC DataPortalENSG00000165995
TCGA cBioPortalCACNB2
AceView (NCBI)CACNB2
Genatlas (Paris)CACNB2
WikiGenes783
SOURCE (Princeton)CACNB2
Genetics Home Reference (NIH)CACNB2
Genomic and cartography
GoldenPath hg38 (UCSC)CACNB2  -     chr10:18260655-18541759 +  10p12.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNB2  -     10p12.33   [Description]    (hg19-Feb_2009)
EnsemblCACNB2 - 10p12.33 [CytoView hg19]  CACNB2 - 10p12.33 [CytoView hg38]
Mapping of homologs : NCBICACNB2 [Mapview hg19]  CACNB2 [Mapview hg38]
OMIM600003   611876   
Gene and transcription
Genbank (Entrez)AB208917 AF137376 AF137377 AF285239 AF423189
RefSeq transcript (Entrez)NM_000724 NM_001167945 NM_001330060 NM_201570 NM_201571 NM_201572 NM_201590 NM_201593 NM_201596 NM_201597
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNB2
Cluster EST : UnigeneHs.59093 [ NCBI ]
CGAP (NCI)Hs.59093
Alternative Splicing GalleryENSG00000165995
Gene ExpressionCACNB2 [ NCBI-GEO ]   CACNB2 [ EBI - ARRAY_EXPRESS ]   CACNB2 [ SEEK ]   CACNB2 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)783
GTEX Portal (Tissue expression)CACNB2
Human Protein AtlasENSG00000165995-CACNB2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08289   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08289  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08289
Splice isoforms : SwissVarQ08289
PhosPhoSitePlusQ08289
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    P-loop_NTPase    SH3_domain    VDCC_L_b2su    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)  SH3 (SM00326)  
Conserved Domain (NCBI)CACNB2
DMDM Disease mutations783
Blocks (Seattle)CACNB2
SuperfamilyQ08289
Human Protein Atlas [tissue]ENSG00000165995-CACNB2 [tissue]
Peptide AtlasQ08289
HPRD02473
IPIIPI00000867   IPI00218399   IPI00218400   IPI00218401   IPI00218402   IPI00218404   IPI00218405   IPI00409678   IPI00983272   IPI00479687   IPI00853583   
Protein Interaction databases
DIP (DOE-UCLA)Q08289
IntAct (EBI)Q08289
FunCoupENSG00000165995
BioGRIDCACNB2
STRING (EMBL)CACNB2
ZODIACCACNB2
Ontologies - Pathways
QuickGOQ08289
Ontology : AmiGOvoltage-gated calcium channel activity  calcium channel activity  protein binding  plasma membrane  integral component of plasma membrane  voltage-gated calcium channel complex  chemical synaptic transmission  neuromuscular junction development  visual perception  high voltage-gated calcium channel activity  actin filament binding  positive regulation of calcium ion transport  cardiac conduction  calcium ion import  calcium ion transmembrane transport  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during AV node cell action potential  voltage-gated calcium channel activity involved in AV node cell action potential  regulation of heart rate by cardiac conduction  establishment of protein localization to plasma membrane  membrane depolarization during atrial cardiac muscle cell action potential  regulation of voltage-gated calcium channel activity  positive regulation of high voltage-gated calcium channel activity  positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  L-type voltage-gated calcium channel complex  
Ontology : EGO-EBIvoltage-gated calcium channel activity  calcium channel activity  protein binding  plasma membrane  integral component of plasma membrane  voltage-gated calcium channel complex  chemical synaptic transmission  neuromuscular junction development  visual perception  high voltage-gated calcium channel activity  actin filament binding  positive regulation of calcium ion transport  cardiac conduction  calcium ion import  calcium ion transmembrane transport  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during AV node cell action potential  voltage-gated calcium channel activity involved in AV node cell action potential  regulation of heart rate by cardiac conduction  establishment of protein localization to plasma membrane  membrane depolarization during atrial cardiac muscle cell action potential  regulation of voltage-gated calcium channel activity  positive regulation of high voltage-gated calcium channel activity  positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  L-type voltage-gated calcium channel complex  
Pathways : KEGGMAPK signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNB2
Atlas of Cancer Signalling NetworkCACNB2
Wikipedia pathwaysCACNB2
Orthology - Evolution
OrthoDB783
GeneTree (enSembl)ENSG00000165995
Phylogenetic Trees/Animal Genes : TreeFamCACNB2
HOVERGENQ08289
HOGENOMQ08289
Homologs : HomoloGeneCACNB2
Homology/Alignments : Family Browser (UCSC)CACNB2
Gene fusions - Rearrangements
Fusion: TCGA_MDACCPRPF18 CACNB2
Fusion: TCGA_MDACCFAM188A CACNB2
Tumor Fusion PortalCACNB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNB2
dbVarCACNB2
ClinVarCACNB2
1000_GenomesCACNB2 
Exome Variant ServerCACNB2
ExAC (Exome Aggregation Consortium)ENSG00000165995
GNOMAD BrowserENSG00000165995
Genetic variants : HAPMAP783
Genomic Variants (DGV)CACNB2 [DGVbeta]
DECIPHERCACNB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNB2 
Mutations
ICGC Data PortalCACNB2 
TCGA Data PortalCACNB2 
Broad Tumor PortalCACNB2
OASIS PortalCACNB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNB2
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 CACNB2
DgiDB (Drug Gene Interaction Database)CACNB2
DoCM (Curated mutations)CACNB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNB2 (select a term)
intoGenCACNB2
Cancer3DCACNB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600003    611876   
Orphanet8022   
DisGeNETCACNB2
MedgenCACNB2
Genetic Testing Registry CACNB2
NextProtQ08289 [Medical]
TSGene783
GENETestsCACNB2
Target ValidationCACNB2
Huge Navigator CACNB2 [HugePedia]
snp3D : Map Gene to Disease783
BioCentury BCIQCACNB2
ClinGenCACNB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD783
Chemical/Pharm GKB GenePA88
Clinical trialCACNB2
Miscellaneous
canSAR (ICR)CACNB2 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNB2
EVEXCACNB2
GoPubMedCACNB2
iHOPCACNB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:21:18 CET 2017

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