Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CACNB3 (calcium voltage-gated channel auxiliary subunit beta 3)

Identity

Alias_namesCACNLB3
calcium channel, voltage-dependent, beta 3 subunit
Other aliasCAB3
HGNC (Hugo) CACNB3
LocusID (NCBI) 784
Atlas_Id 61370
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 48818471 and ends at 48828943 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CACNB3 (12q13.12) / CACNB3 (12q13.12)

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)CACNB3   1403
Cards
Entrez_Gene (NCBI)CACNB3  784  calcium voltage-gated channel auxiliary subunit beta 3
AliasesCAB3; CACNLB3
GeneCards (Weizmann)CACNB3
Ensembl hg19 (Hinxton)ENSG00000167535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167535 [Gene_View]  chr12:48818471-48828943 [Contig_View]  CACNB3 [Vega]
ICGC DataPortalENSG00000167535
TCGA cBioPortalCACNB3
AceView (NCBI)CACNB3
Genatlas (Paris)CACNB3
WikiGenes784
SOURCE (Princeton)CACNB3
Genetics Home Reference (NIH)CACNB3
Genomic and cartography
GoldenPath hg38 (UCSC)CACNB3  -     chr12:48818471-48828943 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNB3  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblCACNB3 - 12q13.12 [CytoView hg19]  CACNB3 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBICACNB3 [Mapview hg19]  CACNB3 [Mapview hg38]
OMIM601958   
Gene and transcription
Genbank (Entrez)AK122911 AK289709 AK297639 AK300901 AK304537
RefSeq transcript (Entrez)NM_000725 NM_001206915 NM_001206916 NM_001206917
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNB3
Cluster EST : UnigeneHs.737291 [ NCBI ]
CGAP (NCI)Hs.737291
Alternative Splicing GalleryENSG00000167535
Gene ExpressionCACNB3 [ NCBI-GEO ]   CACNB3 [ EBI - ARRAY_EXPRESS ]   CACNB3 [ SEEK ]   CACNB3 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)784
GTEX Portal (Tissue expression)CACNB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54284   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54284  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54284
Splice isoforms : SwissVarP54284
PhosPhoSitePlusP54284
Domains : Interpro (EBI)GK/Ca_channel_bsu    P-loop_NTPase    SH3_domain    VDCC_L_b3su    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)CACNB3
DMDM Disease mutations784
Blocks (Seattle)CACNB3
SuperfamilyP54284
Human Protein AtlasENSG00000167535
Peptide AtlasP54284
HPRD11879
IPIIPI00005567   IPI00031790   IPI00794995   IPI01022486   IPI01022042   IPI01022203   IPI01021757   IPI01021924   IPI01021309   IPI01021478   IPI01019049   IPI01025957   IPI01012618   IPI01013850   
Protein Interaction databases
DIP (DOE-UCLA)P54284
IntAct (EBI)P54284
FunCoupENSG00000167535
BioGRIDCACNB3
STRING (EMBL)CACNB3
ZODIACCACNB3
Ontologies - Pathways
QuickGOP54284
Ontology : AmiGOvoltage-gated calcium channel activity  calcium channel activity  cytosol  plasma membrane  voltage-gated calcium channel complex  transport  calcium ion transport  chemical synaptic transmission  neuromuscular junction development  high voltage-gated calcium channel activity  high voltage-gated calcium channel activity  membrane  apical plasma membrane  protein kinase binding  T cell receptor signaling pathway  membrane depolarization  calcium ion transport into cytosol  cardiac conduction  calcium ion transmembrane transport via high voltage-gated calcium channel  protein localization to plasma membrane  regulation of membrane repolarization during action potential  regulation of voltage-gated calcium channel activity  L-type voltage-gated calcium channel complex  
Ontology : EGO-EBIvoltage-gated calcium channel activity  calcium channel activity  cytosol  plasma membrane  voltage-gated calcium channel complex  transport  calcium ion transport  chemical synaptic transmission  neuromuscular junction development  high voltage-gated calcium channel activity  high voltage-gated calcium channel activity  membrane  apical plasma membrane  protein kinase binding  T cell receptor signaling pathway  membrane depolarization  calcium ion transport into cytosol  cardiac conduction  calcium ion transmembrane transport via high voltage-gated calcium channel  protein localization to plasma membrane  regulation of membrane repolarization during action potential  regulation of voltage-gated calcium channel activity  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 NetworkCACNB3
Atlas of Cancer Signalling NetworkCACNB3
Wikipedia pathwaysCACNB3
Orthology - Evolution
OrthoDB784
GeneTree (enSembl)ENSG00000167535
Phylogenetic Trees/Animal Genes : TreeFamCACNB3
HOVERGENP54284
HOGENOMP54284
Homologs : HomoloGeneCACNB3
Homology/Alignments : Family Browser (UCSC)CACNB3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNB3
dbVarCACNB3
ClinVarCACNB3
1000_GenomesCACNB3 
Exome Variant ServerCACNB3
ExAC (Exome Aggregation Consortium)CACNB3 (select the gene name)
Genetic variants : HAPMAP784
Genomic Variants (DGV)CACNB3 [DGVbeta]
DECIPHERCACNB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNB3 
Mutations
ICGC Data PortalCACNB3 
TCGA Data PortalCACNB3 
Broad Tumor PortalCACNB3
OASIS PortalCACNB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNB3
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 CACNB3
DgiDB (Drug Gene Interaction Database)CACNB3
DoCM (Curated mutations)CACNB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNB3 (select a term)
intoGenCACNB3
Cancer3DCACNB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601958   
Orphanet
MedgenCACNB3
Genetic Testing Registry CACNB3
NextProtP54284 [Medical]
TSGene784
GENETestsCACNB3
Target ValidationCACNB3
Huge Navigator CACNB3 [HugePedia]
snp3D : Map Gene to Disease784
BioCentury BCIQCACNB3
ClinGenCACNB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD784
Chemical/Pharm GKB GenePA89
Clinical trialCACNB3
Miscellaneous
canSAR (ICR)CACNB3 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNB3
EVEXCACNB3
GoPubMedCACNB3
iHOPCACNB3
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 : Wed Jun 7 15:41:54 CEST 2017

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