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CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3)

Identity

Alias_namescalcium channel
Alias_symbol (synonym)HSA272268
Other alias
HGNC (Hugo) CACNA2D3
LocusID (NCBI) 55799
Atlas_Id 50372
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 54122666 and ends at 55074557 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CACNA2D3 (3p21.1) / CACNA1D (3p21.1)CACNA2D3 (3p21.1) / CACNA2D3 (3p21.1)CACNA2D3 (3p21.1) / FLNB (3p14.3)
CACNA2D3 (3p21.1) / FOXP1 (3p13)CACNA2D3 (3p21.1) / IFT74 (9p21.2)CACNA2D3 (3p21.1) / MIR632 (17q11.2)
FAM19A4 (3p14.1) / CACNA2D3 (3p21.1)GPBP1L1 (1p34.1) / CACNA2D3 (3p21.1)IFT74 (9p21.2) / CACNA2D3 (3p21.1)
MLLT10 (10p12.31) / CACNA2D3 (3p21.1)NEFL (8p21.2) / CACNA2D3 (3p21.1)PBRM1 (3p21.1) / CACNA2D3 (3p21.1)
CACNA2D3 3p21.1 / FOXP1 3p13CACNA2D3 3p21.1 / IFT74 9p21.2FAM19A4 3p14.1 / CACNA2D3 3p21.1
IFT74 9p21.2 / CACNA2D3 3p21.1PBRM1 3p21.1 / CACNA2D3 3p21.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)CACNA2D3   15460
Cards
Entrez_Gene (NCBI)CACNA2D3  55799  calcium voltage-gated channel auxiliary subunit alpha2delta 3
AliasesHSA272268
GeneCards (Weizmann)CACNA2D3
Ensembl hg19 (Hinxton)ENSG00000157445 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157445 [Gene_View]  chr3:54122666-55074557 [Contig_View]  CACNA2D3 [Vega]
ICGC DataPortalENSG00000157445
TCGA cBioPortalCACNA2D3
AceView (NCBI)CACNA2D3
Genatlas (Paris)CACNA2D3
WikiGenes55799
SOURCE (Princeton)CACNA2D3
Genetics Home Reference (NIH)CACNA2D3
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA2D3  -     chr3:54122666-55074557 +  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA2D3  -     3p21.1   [Description]    (hg19-Feb_2009)
EnsemblCACNA2D3 - 3p21.1 [CytoView hg19]  CACNA2D3 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBICACNA2D3 [Mapview hg19]  CACNA2D3 [Mapview hg38]
OMIM606399   
Gene and transcription
Genbank (Entrez)AF516696 AJ272213 AJ272268 AK299718 AK307449
RefSeq transcript (Entrez)NM_018398
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA2D3
Cluster EST : UnigeneHs.656687 [ NCBI ]
CGAP (NCI)Hs.656687
Alternative Splicing GalleryENSG00000157445
Gene ExpressionCACNA2D3 [ NCBI-GEO ]   CACNA2D3 [ EBI - ARRAY_EXPRESS ]   CACNA2D3 [ SEEK ]   CACNA2D3 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA2D3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55799
GTEX Portal (Tissue expression)CACNA2D3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZS8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZS8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZS8
Splice isoforms : SwissVarQ8IZS8
PhosPhoSitePlusQ8IZS8
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)VDCC_a2/dsu    VWA_N    VWF_A   
Domain families : Pfam (Sanger)VGCC_alpha2 (PF08473)    VWA_3 (PF13768)    VWA_N (PF08399)   
Domain families : Pfam (NCBI)pfam08473    pfam13768    pfam08399   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)CACNA2D3
DMDM Disease mutations55799
Blocks (Seattle)CACNA2D3
SuperfamilyQ8IZS8
Human Protein AtlasENSG00000157445
Peptide AtlasQ8IZS8
HPRD05907
IPIIPI00302181   IPI00796068   IPI00790775   IPI00942501   IPI00946576   IPI00946292   IPI00946394   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZS8
IntAct (EBI)Q8IZS8
FunCoupENSG00000157445
BioGRIDCACNA2D3
STRING (EMBL)CACNA2D3
ZODIACCACNA2D3
Ontologies - Pathways
QuickGOQ8IZS8
Ontology : AmiGOvoltage-gated ion channel activity  calcium channel activity  plasma membrane  integral component of membrane  regulation of ion transmembrane transport  metal ion binding  cardiac conduction  calcium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated ion channel activity  calcium channel activity  plasma membrane  integral component of membrane  regulation of ion transmembrane transport  metal ion binding  cardiac conduction  calcium ion transmembrane transport  
Pathways : KEGGMAPK signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNA2D3
Atlas of Cancer Signalling NetworkCACNA2D3
Wikipedia pathwaysCACNA2D3
Orthology - Evolution
OrthoDB55799
GeneTree (enSembl)ENSG00000157445
Phylogenetic Trees/Animal Genes : TreeFamCACNA2D3
HOVERGENQ8IZS8
HOGENOMQ8IZS8
Homologs : HomoloGeneCACNA2D3
Homology/Alignments : Family Browser (UCSC)CACNA2D3
Gene fusions - Rearrangements
Fusion : MitelmanCACNA2D3/FLNB [3p21.1/3p14.3]  
Fusion : MitelmanCACNA2D3/FOXP1 [3p21.1/3p13]  [t(3;3)(p13;p21)]  
Fusion : MitelmanCACNA2D3/IFT74 [3p21.1/9p21.2]  [t(3;9)(p21;p21)]  
Fusion : MitelmanFAM19A4/CACNA2D3 [3p14.1/3p21.1]  [t(3;3)(p14;p21)]  
Fusion : MitelmanIFT74/CACNA2D3 [9p21.2/3p21.1]  [t(3;9)(p21;p21)]  
Fusion : MitelmanPBRM1/CACNA2D3 [3p21.1/3p21.1]  [t(3;3)(p21;p21)]  
Fusion: TCGACACNA2D3 3p21.1 FOXP1 3p13 BRCA
Fusion: TCGACACNA2D3 3p21.1 IFT74 9p21.2 THCA
Fusion: TCGAFAM19A4 3p14.1 CACNA2D3 3p21.1 BRCA
Fusion: TCGAIFT74 9p21.2 CACNA2D3 3p21.1 THCA
Fusion: TCGAPBRM1 3p21.1 CACNA2D3 3p21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA2D3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA2D3
dbVarCACNA2D3
ClinVarCACNA2D3
1000_GenomesCACNA2D3 
Exome Variant ServerCACNA2D3
ExAC (Exome Aggregation Consortium)CACNA2D3 (select the gene name)
Genetic variants : HAPMAP55799
Genomic Variants (DGV)CACNA2D3 [DGVbeta]
DECIPHERCACNA2D3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA2D3 
Mutations
ICGC Data PortalCACNA2D3 
TCGA Data PortalCACNA2D3 
Broad Tumor PortalCACNA2D3
OASIS PortalCACNA2D3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA2D3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA2D3
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 CACNA2D3
DgiDB (Drug Gene Interaction Database)CACNA2D3
DoCM (Curated mutations)CACNA2D3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA2D3 (select a term)
intoGenCACNA2D3
Cancer3DCACNA2D3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606399   
Orphanet
MedgenCACNA2D3
Genetic Testing Registry CACNA2D3
NextProtQ8IZS8 [Medical]
TSGene55799
GENETestsCACNA2D3
Target ValidationCACNA2D3
Huge Navigator CACNA2D3 [HugePedia]
snp3D : Map Gene to Disease55799
BioCentury BCIQCACNA2D3
ClinGenCACNA2D3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55799
Chemical/Pharm GKB GenePA26013
Clinical trialCACNA2D3
Miscellaneous
canSAR (ICR)CACNA2D3 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA2D3
EVEXCACNA2D3
GoPubMedCACNA2D3
iHOPCACNA2D3
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 18 13:48:34 CEST 2017

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