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CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)

Identity

Alias_namesCACNL2A
CACNA2
MHS3
LINC01112
long intergenic non-protein coding RNA 1112
calcium channel, voltage-dependent, alpha 2/delta subunit 1
Alias_symbol (synonym)lncRNA-N3
Other aliasCCHL2A
HGNC (Hugo) CACNA2D1
LocusID (NCBI) 781
Atlas_Id 61366
Location 7q21.11  [Link to chromosome band 7q21]
Location_base_pair Starts at 81946444 and ends at 82443806 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CACNA2D1 (7q21.11) / CACNA2D1 (7q21.11)CACNA2D1 (7q21.11) / NAALADL2 (3q26.31)PHF14 (7p21.3) / CACNA2D1 (7q21.11)

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)CACNA2D1   1399
LRG (Locus Reference Genomic)LRG_437
Cards
Entrez_Gene (NCBI)CACNA2D1  781  calcium voltage-gated channel auxiliary subunit alpha2delta 1
AliasesCACNA2; CACNL2A; CCHL2A; LINC01112; 
lncRNA-N3
GeneCards (Weizmann)CACNA2D1
Ensembl hg19 (Hinxton)ENSG00000153956 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000153956 [Gene_View]  chr7:81946444-82443806 [Contig_View]  CACNA2D1 [Vega]
ICGC DataPortalENSG00000153956
TCGA cBioPortalCACNA2D1
AceView (NCBI)CACNA2D1
Genatlas (Paris)CACNA2D1
WikiGenes781
SOURCE (Princeton)CACNA2D1
Genetics Home Reference (NIH)CACNA2D1
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA2D1  -     chr7:81946444-82443806 -  7q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA2D1  -     7q21.11   [Description]    (hg19-Feb_2009)
EnsemblCACNA2D1 - 7q21.11 [CytoView hg19]  CACNA2D1 - 7q21.11 [CytoView hg38]
Mapping of homologs : NCBICACNA2D1 [Mapview hg19]  CACNA2D1 [Mapview hg38]
OMIM114204   
Gene and transcription
Genbank (Entrez)AI924415 AK055040 AK092048 AK299838 AL707206
RefSeq transcript (Entrez)NM_000722 NM_001302890
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA2D1
Cluster EST : UnigeneHs.743228 [ NCBI ]
CGAP (NCI)Hs.743228
Alternative Splicing GalleryENSG00000153956
Gene ExpressionCACNA2D1 [ NCBI-GEO ]   CACNA2D1 [ EBI - ARRAY_EXPRESS ]   CACNA2D1 [ SEEK ]   CACNA2D1 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA2D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)781
GTEX Portal (Tissue expression)CACNA2D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54289   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54289  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54289
Splice isoforms : SwissVarP54289
PhosPhoSitePlusP54289
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)VDCC_a2/dsu    VWA_N    VWF_A   
Domain families : Pfam (Sanger)VGCC_alpha2 (PF08473)    VWA (PF00092)    VWA_N (PF08399)   
Domain families : Pfam (NCBI)pfam08473    pfam00092    pfam08399   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)CACNA2D1
DMDM Disease mutations781
Blocks (Seattle)CACNA2D1
SuperfamilyP54289
Human Protein AtlasENSG00000153956
Peptide AtlasP54289
HPRD00245
IPIIPI00978064   IPI01015859   IPI00953206   IPI00953262   IPI00953650   IPI01012143   IPI00470535   IPI00976327   IPI00927161   
Protein Interaction databases
DIP (DOE-UCLA)P54289
IntAct (EBI)P54289
FunCoupENSG00000153956
BioGRIDCACNA2D1
STRING (EMBL)CACNA2D1
ZODIACCACNA2D1
Ontologies - Pathways
QuickGOP54289
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  sarcoplasmic reticulum  metal ion binding  regulation of calcium ion transport  regulation of ventricular cardiac muscle cell membrane repolarization  calcium ion transport into cytosol  cardiac conduction  calcium ion transmembrane transport via high voltage-gated calcium channel  extracellular exosome  cardiac muscle cell action potential involved in contraction  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during bundle of His cell action potential  voltage-gated calcium channel activity involved in bundle of His cell action potential  regulation of heart rate by cardiac conduction  calcium ion import across plasma membrane  regulation of membrane repolarization during action potential  positive regulation of high voltage-gated calcium channel activity  L-type voltage-gated calcium channel complex  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  sarcoplasmic reticulum  metal ion binding  regulation of calcium ion transport  regulation of ventricular cardiac muscle cell membrane repolarization  calcium ion transport into cytosol  cardiac conduction  calcium ion transmembrane transport via high voltage-gated calcium channel  extracellular exosome  cardiac muscle cell action potential involved in contraction  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during bundle of His cell action potential  voltage-gated calcium channel activity involved in bundle of His cell action potential  regulation of heart rate by cardiac conduction  calcium ion import across plasma membrane  regulation of membrane repolarization during action potential  positive regulation of high 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 NetworkCACNA2D1
Atlas of Cancer Signalling NetworkCACNA2D1
Wikipedia pathwaysCACNA2D1
Orthology - Evolution
OrthoDB781
GeneTree (enSembl)ENSG00000153956
Phylogenetic Trees/Animal Genes : TreeFamCACNA2D1
HOVERGENP54289
HOGENOMP54289
Homologs : HomoloGeneCACNA2D1
Homology/Alignments : Family Browser (UCSC)CACNA2D1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA2D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA2D1
dbVarCACNA2D1
ClinVarCACNA2D1
1000_GenomesCACNA2D1 
Exome Variant ServerCACNA2D1
ExAC (Exome Aggregation Consortium)CACNA2D1 (select the gene name)
Genetic variants : HAPMAP781
Genomic Variants (DGV)CACNA2D1 [DGVbeta]
DECIPHERCACNA2D1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA2D1 
Mutations
ICGC Data PortalCACNA2D1 
TCGA Data PortalCACNA2D1 
Broad Tumor PortalCACNA2D1
OASIS PortalCACNA2D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA2D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA2D1
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 CACNA2D1
DgiDB (Drug Gene Interaction Database)CACNA2D1
DoCM (Curated mutations)CACNA2D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA2D1 (select a term)
intoGenCACNA2D1
Cancer3DCACNA2D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114204   
Orphanet8022    10670   
MedgenCACNA2D1
Genetic Testing Registry CACNA2D1
NextProtP54289 [Medical]
TSGene781
GENETestsCACNA2D1
Target ValidationCACNA2D1
Huge Navigator CACNA2D1 [HugePedia]
snp3D : Map Gene to Disease781
BioCentury BCIQCACNA2D1
ClinGenCACNA2D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD781
Chemical/Pharm GKB GenePA86
Clinical trialCACNA2D1
Miscellaneous
canSAR (ICR)CACNA2D1 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA2D1
EVEXCACNA2D1
GoPubMedCACNA2D1
iHOPCACNA2D1
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 13:03:45 CEST 2017

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