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CACNA1D (calcium voltage-gated channel subunit alpha1 D)

Identity

Alias_namesCCHL1A2
CACNL1A2
calcium channel
Alias_symbol (synonym)Cav1.3
CACH3
CACN4
Other aliasPASNA
SANDD
HGNC (Hugo) CACNA1D
LocusID (NCBI) 776
Atlas_Id 53588
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 53495049 and ends at 53812465 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CACNA1D (3p21.1) / CACNA1D (3p21.1)CACNA1D (3p21.1) / NOX1 (Xq22.1)CACNA1D (3p21.1) / PRKCD (3p21.1)
CACNA2D3 (3p21.1) / CACNA1D (3p21.1)CACNA1D 3p21.1 / PRKCD 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

 


External links

Nomenclature
HGNC (Hugo)CACNA1D   1391
Cards
Entrez_Gene (NCBI)CACNA1D  776  calcium voltage-gated channel subunit alpha1 D
AliasesCACH3; CACN4; CACNL1A2; CCHL1A2; 
Cav1.3; PASNA; SANDD
GeneCards (Weizmann)CACNA1D
Ensembl hg19 (Hinxton)ENSG00000157388 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157388 [Gene_View]  chr3:53495049-53812465 [Contig_View]  CACNA1D [Vega]
ICGC DataPortalENSG00000157388
TCGA cBioPortalCACNA1D
AceView (NCBI)CACNA1D
Genatlas (Paris)CACNA1D
WikiGenes776
SOURCE (Princeton)CACNA1D
Genetics Home Reference (NIH)CACNA1D
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1D  -     chr3:53495049-53812465 +  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1D  -     3p21.1   [Description]    (hg19-Feb_2009)
EnsemblCACNA1D - 3p21.1 [CytoView hg19]  CACNA1D - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBICACNA1D [Mapview hg19]  CACNA1D [Mapview hg38]
OMIM114206   614896   615474   
Gene and transcription
Genbank (Entrez)AB209171 AK294397 AK294585 AW008794 EU363339
RefSeq transcript (Entrez)NM_000720 NM_001128839 NM_001128840
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1D
Cluster EST : UnigeneHs.476358 [ NCBI ]
CGAP (NCI)Hs.476358
Alternative Splicing GalleryENSG00000157388
Gene ExpressionCACNA1D [ NCBI-GEO ]   CACNA1D [ EBI - ARRAY_EXPRESS ]   CACNA1D [ SEEK ]   CACNA1D [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)776
GTEX Portal (Tissue expression)CACNA1D
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01668   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01668  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01668
Splice isoforms : SwissVarQ01668
PhosPhoSitePlusQ01668
Domains : Interpro (EBI)CAC1F_C    Channel_four-helix_dom    GPHH_dom    Ion_trans_dom    LVDCC_a1dsu    VDCC_a1su_IQ    VDCC_L_a1su    VDCCAlpha1   
Domain families : Pfam (Sanger)Ca_chan_IQ (PF08763)    CAC1F_C (PF16885)    GPHH (PF16905)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam08763    pfam16885    pfam16905    pfam00520   
Domain families : Smart (EMBL)Ca_chan_IQ (SM01062)  
Conserved Domain (NCBI)CACNA1D
DMDM Disease mutations776
Blocks (Seattle)CACNA1D
PDB (SRS)3LV3   
PDB (PDBSum)3LV3   
PDB (IMB)3LV3   
PDB (RSDB)3LV3   
Structural Biology KnowledgeBase3LV3   
SCOP (Structural Classification of Proteins)3LV3   
CATH (Classification of proteins structures)3LV3   
SuperfamilyQ01668
Human Protein AtlasENSG00000157388
Peptide AtlasQ01668
HPRD00247
IPIIPI00009008   IPI00216354   IPI00922901   IPI00789315   IPI01015272   IPI00947531   IPI00945776   
Protein Interaction databases
DIP (DOE-UCLA)Q01668
IntAct (EBI)Q01668
FunCoupENSG00000157388
BioGRIDCACNA1D
STRING (EMBL)CACNA1D
ZODIACCACNA1D
Ontologies - Pathways
QuickGOQ01668
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated calcium channel activity  plasma membrane  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  sensory perception of sound  high voltage-gated calcium channel activity  Z disc  ankyrin binding  metal ion binding  regulation of insulin secretion  alpha-actinin binding  positive regulation of calcium ion transport  regulation of atrial cardiac muscle cell membrane repolarization  cardiac conduction  calcium ion import  calcium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during cardiac muscle cell action potential  membrane depolarization during SA node cell action potential  voltage-gated calcium channel activity involved SA node cell action potential  regulation of heart rate by cardiac conduction  regulation of potassium ion transmembrane transporter activity  regulation of potassium ion transmembrane transport  L-type voltage-gated calcium channel complex  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated calcium channel activity  plasma membrane  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  sensory perception of sound  high voltage-gated calcium channel activity  Z disc  ankyrin binding  metal ion binding  regulation of insulin secretion  alpha-actinin binding  positive regulation of calcium ion transport  regulation of atrial cardiac muscle cell membrane repolarization  cardiac conduction  calcium ion import  calcium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during cardiac muscle cell action potential  membrane depolarization during SA node cell action potential  voltage-gated calcium channel activity involved SA node cell action potential  regulation of heart rate by cardiac conduction  regulation of potassium ion transmembrane transporter activity  regulation of potassium ion transmembrane transport  L-type voltage-gated calcium channel complex  
Pathways : KEGG   
NDEx NetworkCACNA1D
Atlas of Cancer Signalling NetworkCACNA1D
Wikipedia pathwaysCACNA1D
Orthology - Evolution
OrthoDB776
GeneTree (enSembl)ENSG00000157388
Phylogenetic Trees/Animal Genes : TreeFamCACNA1D
HOVERGENQ01668
HOGENOMQ01668
Homologs : HomoloGeneCACNA1D
Homology/Alignments : Family Browser (UCSC)CACNA1D
Gene fusions - Rearrangements
Fusion : MitelmanCACNA1D/PRKCD [3p21.1/3p21.1]  
Fusion: TCGACACNA1D 3p21.1 PRKCD 3p21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1D
dbVarCACNA1D
ClinVarCACNA1D
1000_GenomesCACNA1D 
Exome Variant ServerCACNA1D
ExAC (Exome Aggregation Consortium)CACNA1D (select the gene name)
Genetic variants : HAPMAP776
Genomic Variants (DGV)CACNA1D [DGVbeta]
DECIPHERCACNA1D [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA1D 
Mutations
ICGC Data PortalCACNA1D 
TCGA Data PortalCACNA1D 
Broad Tumor PortalCACNA1D
OASIS PortalCACNA1D [ Somatic mutations - Copy number]
Cancer Gene: CensusCACNA1D 
Somatic Mutations in Cancer : COSMICCACNA1D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1D
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 CACNA1D
DgiDB (Drug Gene Interaction Database)CACNA1D
DoCM (Curated mutations)CACNA1D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1D (select a term)
intoGenCACNA1D
Cancer3DCACNA1D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114206    614896    615474   
Orphanet21765    22449   
MedgenCACNA1D
Genetic Testing Registry CACNA1D
NextProtQ01668 [Medical]
TSGene776
GENETestsCACNA1D
Target ValidationCACNA1D
Huge Navigator CACNA1D [HugePedia]
snp3D : Map Gene to Disease776
BioCentury BCIQCACNA1D
ClinGenCACNA1D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD776
Chemical/Pharm GKB GenePA84
Clinical trialCACNA1D
Miscellaneous
canSAR (ICR)CACNA1D (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1D
EVEXCACNA1D
GoPubMedCACNA1D
iHOPCACNA1D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:26:26 CEST 2017

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