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CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4)

Identity

Alias_namescalcium channel
Other aliasRCD4
HGNC (Hugo) CACNA2D4
LocusID (NCBI) 93589
Atlas_Id 52976
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 1901123 and ends at 2027870 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA2D4 (12p13.33) / HMGN2 (1p36.11)CACNA2D4 (12p13.33) / WDR43 (2p23.2)ERC1 (12p13.33) / CACNA2D4 (12p13.33)
FANCA (16q24.3) / CACNA2D4 (12p13.33)SLC35E3 (12q15) / CACNA2D4 (12p13.33)UQCC1 (20q11.22) / CACNA2D4 (12p13.33)
WDR70 (5p13.2) / CACNA2D4 (12p13.33)ZNF274 (19q13.43) / CACNA2D4 (12p13.33)FANCA 16q24.3 / CACNA2D4 12p13.33
UQCC CACNA2D4 12p13.33WDR70 5p13.2 / CACNA2D4 12p13.33ZNF274 19q13.43 / CACNA2D4 12p13.33

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 Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)CACNA2D4   20202
Cards
Entrez_Gene (NCBI)CACNA2D4  93589  calcium voltage-gated channel auxiliary subunit alpha2delta 4
AliasesRCD4
GeneCards (Weizmann)CACNA2D4
Ensembl hg19 (Hinxton)ENSG00000151062 [Gene_View]  chr12:1901123-2027870 [Contig_View]  CACNA2D4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000151062 [Gene_View]  chr12:1901123-2027870 [Contig_View]  CACNA2D4 [Vega]
ICGC DataPortalENSG00000151062
TCGA cBioPortalCACNA2D4
AceView (NCBI)CACNA2D4
Genatlas (Paris)CACNA2D4
WikiGenes93589
SOURCE (Princeton)CACNA2D4
Genetics Home Reference (NIH)CACNA2D4
Genomic and cartography
GoldenPath hg19 (UCSC)CACNA2D4  -     chr12:1901123-2027870 -  12p13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACNA2D4  -     12p13.33   [Description]    (hg38-Dec_2013)
EnsemblCACNA2D4 - 12p13.33 [CytoView hg19]  CACNA2D4 - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBICACNA2D4 [Mapview hg19]  CACNA2D4 [Mapview hg38]
OMIM608171   610478   
Gene and transcription
Genbank (Entrez)AA001411 AF516695 AI160471 AK301234 AL137658
RefSeq transcript (Entrez)NM_001005737 NM_001005766 NM_172364
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_012663 NT_009759 NW_004929382
Consensus coding sequences : CCDS (NCBI)CACNA2D4
Cluster EST : UnigeneHs.13768 [ NCBI ]
CGAP (NCI)Hs.13768
Alternative Splicing GalleryENSG00000151062
Gene ExpressionCACNA2D4 [ NCBI-GEO ]   CACNA2D4 [ EBI - ARRAY_EXPRESS ]   CACNA2D4 [ SEEK ]   CACNA2D4 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA2D4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)93589
GTEX Portal (Tissue expression)CACNA2D4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z3S7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z3S7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z3S7
Splice isoforms : SwissVarQ7Z3S7
PhosPhoSitePlusQ7Z3S7
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Cache_domain    VWA_N    VWF_A   
Domain families : Pfam (Sanger)Cache_1 (PF02743)    VWA_3 (PF13768)    VWA_N (PF08399)   
Domain families : Pfam (NCBI)pfam02743    pfam13768    pfam08399   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)CACNA2D4
DMDM Disease mutations93589
Blocks (Seattle)CACNA2D4
SuperfamilyQ7Z3S7
Human Protein AtlasENSG00000151062
Peptide AtlasQ7Z3S7
HPRD12182
IPIIPI00218065   IPI00855801   IPI00856054   IPI00856031   IPI00855890   IPI00480038   IPI00855923   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z3S7
IntAct (EBI)Q7Z3S7
FunCoupENSG00000151062
BioGRIDCACNA2D4
STRING (EMBL)CACNA2D4
ZODIACCACNA2D4
Ontologies - Pathways
QuickGOQ7Z3S7
Ontology : AmiGOvoltage-gated calcium channel activity  calcium channel regulator activity  plasma membrane  voltage-gated calcium channel complex  regulation of ion transmembrane transport  metal ion binding  detection of light stimulus involved in visual perception  regulation of calcium ion transport  cardiac conduction  calcium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated calcium channel activity  calcium channel regulator activity  plasma membrane  voltage-gated calcium channel complex  regulation of ion transmembrane transport  metal ion binding  detection of light stimulus involved in visual perception  regulation of calcium ion transport  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 NetworkCACNA2D4
Atlas of Cancer Signalling NetworkCACNA2D4
Wikipedia pathwaysCACNA2D4
Orthology - Evolution
OrthoDB93589
GeneTree (enSembl)ENSG00000151062
Phylogenetic Trees/Animal Genes : TreeFamCACNA2D4
HOVERGENQ7Z3S7
HOGENOMQ7Z3S7
Homologs : HomoloGeneCACNA2D4
Homology/Alignments : Family Browser (UCSC)CACNA2D4
Gene fusions - Rearrangements
Fusion : MitelmanCACNA2D4/WDR43 [12p13.33/2p23.2]  
Fusion : MitelmanFANCA/CACNA2D4 [16q24.3/12p13.33]  [t(12;16)(p13;q24)]  
Fusion : MitelmanUQCC1/CACNA2D4 [20q11.22/12p13.33]  [t(12;20)(p13;q11)]  
Fusion : MitelmanWDR70/CACNA2D4 [5p13.2/12p13.33]  [t(5;12)(p13;p13)]  
Fusion : MitelmanZNF274/CACNA2D4 [19q13.43/12p13.33]  [t(12;19)(p13;q13)]  
Fusion: TCGAFANCA 16q24.3 CACNA2D4 12p13.33 LUAD
Fusion: TCGAUQCC CACNA2D4 12p13.33 BRCA
Fusion: TCGAWDR70 5p13.2 CACNA2D4 12p13.33 BLCA
Fusion: TCGAZNF274 19q13.43 CACNA2D4 12p13.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA2D4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA2D4
dbVarCACNA2D4
ClinVarCACNA2D4
1000_GenomesCACNA2D4 
Exome Variant ServerCACNA2D4
ExAC (Exome Aggregation Consortium)CACNA2D4 (select the gene name)
Genetic variants : HAPMAP93589
Genomic Variants (DGV)CACNA2D4 [DGVbeta]
DECIPHER (Syndromes)12:1901123-2027870  ENSG00000151062
CONAN: Copy Number AnalysisCACNA2D4 
Mutations
ICGC Data PortalCACNA2D4 
TCGA Data PortalCACNA2D4 
Broad Tumor PortalCACNA2D4
OASIS PortalCACNA2D4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA2D4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA2D4
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CACNA2D4
DgiDB (Drug Gene Interaction Database)CACNA2D4
DoCM (Curated mutations)CACNA2D4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA2D4 (select a term)
intoGenCACNA2D4
Cancer3DCACNA2D4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608171    610478   
Orphanet923    1843   
MedgenCACNA2D4
Genetic Testing Registry CACNA2D4
NextProtQ7Z3S7 [Medical]
TSGene93589
GENETestsCACNA2D4
Huge Navigator CACNA2D4 [HugePedia]
snp3D : Map Gene to Disease93589
BioCentury BCIQCACNA2D4
ClinGenCACNA2D4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD93589
Chemical/Pharm GKB GenePA130546913
Clinical trialCACNA2D4
Miscellaneous
canSAR (ICR)CACNA2D4 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA2D4
EVEXCACNA2D4
GoPubMedCACNA2D4
iHOPCACNA2D4
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 : Tue Mar 14 12:58:28 CET 2017

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