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CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)

Identity

Alias_namescalcium channel
Alias_symbol (synonym)KIAA0558
Other aliasCACNA2D
HGNC (Hugo) CACNA2D2
LocusID (NCBI) 9254
Atlas_Id 43966
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 50400044 and ends at 50541028 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA2D2 (3p21.31) / CACNA2D2 (3p21.31)CACNA2D2 (3p21.31) / SLCO4A1 (20q13.33)CACNA2D2 (3p21.31) / THRSP (11q14.1)
RHOA (3p21.31) / CACNA2D2 (3p21.31)CACNA2D2 3p21.31 / THRSP 11q14.1RHOA 3p21.31 / CACNA2D2 3p21.31

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)CACNA2D2   1400
Cards
Entrez_Gene (NCBI)CACNA2D2  9254  calcium voltage-gated channel auxiliary subunit alpha2delta 2
AliasesCACNA2D
GeneCards (Weizmann)CACNA2D2
Ensembl hg19 (Hinxton)ENSG00000007402 [Gene_View]  chr3:50400044-50541028 [Contig_View]  CACNA2D2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000007402 [Gene_View]  chr3:50400044-50541028 [Contig_View]  CACNA2D2 [Vega]
ICGC DataPortalENSG00000007402
TCGA cBioPortalCACNA2D2
AceView (NCBI)CACNA2D2
Genatlas (Paris)CACNA2D2
WikiGenes9254
SOURCE (Princeton)CACNA2D2
Genetics Home Reference (NIH)CACNA2D2
Genomic and cartography
GoldenPath hg19 (UCSC)CACNA2D2  -     chr3:50400044-50541028 -  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACNA2D2  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblCACNA2D2 - 3p21.31 [CytoView hg19]  CACNA2D2 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBICACNA2D2 [Mapview hg19]  CACNA2D2 [Mapview hg38]
OMIM607082   
Gene and transcription
Genbank (Entrez)AB011130 AF040709 AF042792 AF042793 AJ251367
RefSeq transcript (Entrez)NM_001005505 NM_001174051 NM_001291101 NM_006030
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_034070 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)CACNA2D2
Cluster EST : UnigeneHs.674666 [ NCBI ]
CGAP (NCI)Hs.674666
Alternative Splicing GalleryENSG00000007402
Gene ExpressionCACNA2D2 [ NCBI-GEO ]   CACNA2D2 [ EBI - ARRAY_EXPRESS ]   CACNA2D2 [ SEEK ]   CACNA2D2 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA2D2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9254
GTEX Portal (Tissue expression)CACNA2D2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NY47   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NY47  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NY47
Splice isoforms : SwissVarQ9NY47
PhosPhoSitePlusQ9NY47
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Cache_domain    VDCC_a2/dsu    VWA_N    VWF_A   
Domain families : Pfam (Sanger)Cache_1 (PF02743)    VGCC_alpha2 (PF08473)    VWA (PF00092)    VWA_N (PF08399)   
Domain families : Pfam (NCBI)pfam02743    pfam08473    pfam00092    pfam08399   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)CACNA2D2
DMDM Disease mutations9254
Blocks (Seattle)CACNA2D2
SuperfamilyQ9NY47
Human Protein AtlasENSG00000007402
Peptide AtlasQ9NY47
HPRD06154
IPIIPI00796052   IPI00479758   IPI00410600   IPI00794469   IPI00871339   IPI00946159   
Protein Interaction databases
DIP (DOE-UCLA)Q9NY47
IntAct (EBI)Q9NY47
FunCoupENSG00000007402
BioGRIDCACNA2D2
STRING (EMBL)CACNA2D2
ZODIACCACNA2D2
Ontologies - Pathways
QuickGOQ9NY47
Ontology : AmiGOvoltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  neuromuscular junction development  regulation of ion transmembrane transport  regulation of multicellular organism growth  positive regulation of organ growth  metal ion binding  muscle fiber development  regulation of insulin secretion  rhythmic synaptic transmission  cardiac conduction  calcium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  neuromuscular junction development  regulation of ion transmembrane transport  regulation of multicellular organism growth  positive regulation of organ growth  metal ion binding  muscle fiber development  regulation of insulin secretion  rhythmic synaptic transmission  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 NetworkCACNA2D2
Atlas of Cancer Signalling NetworkCACNA2D2
Wikipedia pathwaysCACNA2D2
Orthology - Evolution
OrthoDB9254
GeneTree (enSembl)ENSG00000007402
Phylogenetic Trees/Animal Genes : TreeFamCACNA2D2
HOVERGENQ9NY47
HOGENOMQ9NY47
Homologs : HomoloGeneCACNA2D2
Homology/Alignments : Family Browser (UCSC)CACNA2D2
Gene fusions - Rearrangements
Fusion : MitelmanCACNA2D2/THRSP [3p21.31/11q14.1]  
Fusion : MitelmanRHOA/CACNA2D2 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion: TCGACACNA2D2 3p21.31 THRSP 11q14.1 SKCM
Fusion: TCGARHOA 3p21.31 CACNA2D2 3p21.31 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA2D2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA2D2
dbVarCACNA2D2
ClinVarCACNA2D2
1000_GenomesCACNA2D2 
Exome Variant ServerCACNA2D2
ExAC (Exome Aggregation Consortium)CACNA2D2 (select the gene name)
Genetic variants : HAPMAP9254
Genomic Variants (DGV)CACNA2D2 [DGVbeta]
DECIPHER (Syndromes)3:50400044-50541028  ENSG00000007402
CONAN: Copy Number AnalysisCACNA2D2 
Mutations
ICGC Data PortalCACNA2D2 
TCGA Data PortalCACNA2D2 
Broad Tumor PortalCACNA2D2
OASIS PortalCACNA2D2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA2D2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA2D2
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 CACNA2D2
DgiDB (Drug Gene Interaction Database)CACNA2D2
DoCM (Curated mutations)CACNA2D2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA2D2 (select a term)
intoGenCACNA2D2
Cancer3DCACNA2D2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607082   
Orphanet
MedgenCACNA2D2
Genetic Testing Registry CACNA2D2
NextProtQ9NY47 [Medical]
TSGene9254
GENETestsCACNA2D2
Huge Navigator CACNA2D2 [HugePedia]
snp3D : Map Gene to Disease9254
BioCentury BCIQCACNA2D2
ClinGenCACNA2D2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9254
Chemical/Pharm GKB GenePA26012
Clinical trialCACNA2D2
Miscellaneous
canSAR (ICR)CACNA2D2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA2D2
EVEXCACNA2D2
GoPubMedCACNA2D2
iHOPCACNA2D2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:58:27 CET 2017

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