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CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)

Identity

Alias_namescalcium channel, voltage-dependent, beta 4 subunit
Alias_symbol (synonym)EJM4
Other aliasCAB4
CACNLB4
EA5
EIG9
EJM
EJM6
HGNC (Hugo) CACNB4
LocusID (NCBI) 785
Atlas_Id 61371
Location 2q23.3  [Link to chromosome band 2q23]
Location_base_pair Starts at 151832771 and ends at 152099167 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)
CACNB4 (2q23.3) / RTKN (2p13.1)HMGA2 (12q14.3) / CACNB4 (2q23.3)

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)CACNB4   1404
Cards
Entrez_Gene (NCBI)CACNB4  785  calcium voltage-gated channel auxiliary subunit beta 4
AliasesCAB4; CACNLB4; EA5; EIG9; 
EJM; EJM4; EJM6
GeneCards (Weizmann)CACNB4
Ensembl hg19 (Hinxton)ENSG00000182389 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182389 [Gene_View]  chr2:151832771-152099167 [Contig_View]  CACNB4 [Vega]
ICGC DataPortalENSG00000182389
TCGA cBioPortalCACNB4
AceView (NCBI)CACNB4
Genatlas (Paris)CACNB4
WikiGenes785
SOURCE (Princeton)CACNB4
Genetics Home Reference (NIH)CACNB4
Genomic and cartography
GoldenPath hg38 (UCSC)CACNB4  -     chr2:151832771-152099167 -  2q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNB4  -     2q23.3   [Description]    (hg19-Feb_2009)
EnsemblCACNB4 - 2q23.3 [CytoView hg19]  CACNB4 - 2q23.3 [CytoView hg38]
Mapping of homologs : NCBICACNB4 [Mapview hg19]  CACNB4 [Mapview hg38]
OMIM601949   607682   613855   
Gene and transcription
Genbank (Entrez)AB302276 AF038852 AF075047 AK290049 AK291378
RefSeq transcript (Entrez)NM_000726 NM_001005746 NM_001005747 NM_001145798 NM_001320722 NM_001330113 NM_001330114 NM_001330115 NM_001330116 NM_001330117 NM_001330118
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNB4
Cluster EST : UnigeneHs.120725 [ NCBI ]
CGAP (NCI)Hs.120725
Alternative Splicing GalleryENSG00000182389
Gene ExpressionCACNB4 [ NCBI-GEO ]   CACNB4 [ EBI - ARRAY_EXPRESS ]   CACNB4 [ SEEK ]   CACNB4 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNB4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)785
GTEX Portal (Tissue expression)CACNB4
Human Protein AtlasENSG00000182389-CACNB4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00305   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00305  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00305
Splice isoforms : SwissVarO00305
PhosPhoSitePlusO00305
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    P-loop_NTPase    SH3_domain    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)CACNB4
DMDM Disease mutations785
Blocks (Seattle)CACNB4
PDB (SRS)1VYV    2D46   
PDB (PDBSum)1VYV    2D46   
PDB (IMB)1VYV    2D46   
PDB (RSDB)1VYV    2D46   
Structural Biology KnowledgeBase1VYV    2D46   
SCOP (Structural Classification of Proteins)1VYV    2D46   
CATH (Classification of proteins structures)1VYV    2D46   
SuperfamilyO00305
Human Protein Atlas [tissue]ENSG00000182389-CACNB4 [tissue]
Peptide AtlasO00305
HPRD09057
IPIIPI00011258   IPI00332347   IPI01009691   IPI01010135   IPI00927467   IPI00924684   IPI00927905   IPI00478791   IPI00925611   
Protein Interaction databases
DIP (DOE-UCLA)O00305
IntAct (EBI)O00305
FunCoupENSG00000182389
BioGRIDCACNB4
STRING (EMBL)CACNB4
ZODIACCACNB4
Ontologies - Pathways
QuickGOO00305
Ontology : AmiGOvoltage-gated calcium channel activity  calcium channel activity  protein binding  cytosol  plasma membrane  voltage-gated calcium channel complex  transport  chemical synaptic transmission  neuromuscular junction development  high voltage-gated calcium channel activity  cytoplasmic side of plasma membrane  membrane depolarization  cardiac conduction  calcium ion transmembrane transport  regulation of voltage-gated calcium channel activity  
Ontology : EGO-EBIvoltage-gated calcium channel activity  calcium channel activity  protein binding  cytosol  plasma membrane  voltage-gated calcium channel complex  transport  chemical synaptic transmission  neuromuscular junction development  high voltage-gated calcium channel activity  cytoplasmic side of plasma membrane  membrane depolarization  cardiac conduction  calcium ion transmembrane transport  regulation of voltage-gated calcium channel activity  
Pathways : KEGGMAPK signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNB4
Atlas of Cancer Signalling NetworkCACNB4
Wikipedia pathwaysCACNB4
Orthology - Evolution
OrthoDB785
GeneTree (enSembl)ENSG00000182389
Phylogenetic Trees/Animal Genes : TreeFamCACNB4
HOVERGENO00305
HOGENOMO00305
Homologs : HomoloGeneCACNB4
Homology/Alignments : Family Browser (UCSC)CACNB4
Gene fusions - Rearrangements
Fusion: Tumor Portal CACNB4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNB4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNB4
dbVarCACNB4
ClinVarCACNB4
1000_GenomesCACNB4 
Exome Variant ServerCACNB4
ExAC (Exome Aggregation Consortium)ENSG00000182389
GNOMAD BrowserENSG00000182389
Genetic variants : HAPMAP785
Genomic Variants (DGV)CACNB4 [DGVbeta]
DECIPHERCACNB4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNB4 
Mutations
ICGC Data PortalCACNB4 
TCGA Data PortalCACNB4 
Broad Tumor PortalCACNB4
OASIS PortalCACNB4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNB4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNB4
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 CACNB4
DgiDB (Drug Gene Interaction Database)CACNB4
DoCM (Curated mutations)CACNB4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNB4 (select a term)
intoGenCACNB4
Cancer3DCACNB4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601949    607682    613855   
Orphanet102    18709   
MedgenCACNB4
Genetic Testing Registry CACNB4
NextProtO00305 [Medical]
TSGene785
GENETestsCACNB4
Target ValidationCACNB4
Huge Navigator CACNB4 [HugePedia]
snp3D : Map Gene to Disease785
BioCentury BCIQCACNB4
ClinGenCACNB4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD785
Chemical/Pharm GKB GenePA26014
Clinical trialCACNB4
Miscellaneous
canSAR (ICR)CACNB4 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNB4
EVEXCACNB4
GoPubMedCACNB4
iHOPCACNB4
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 : Thu Nov 9 11:41:08 CET 2017

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