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CACNA1E (calcium voltage-gated channel subunit alpha1 E)

Identity

Alias_namesCACNL1A6
calcium channel, voltage-dependent, R type, alpha 1E subunit
calcium voltage-gated channel subunit alpha1 subunit E
Alias_symbol (synonym)Cav2.3
BII
CACH6
Other alias
HGNC (Hugo) CACNA1E
LocusID (NCBI) 777
Atlas_Id 46611
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 181452686 and ends at 181775921 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA1E (1q25.3) / RPL30 (8q22.2)CACNA1E (1q25.3) / SLC25A15 (13q14.11)

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)CACNA1E   1392
Cards
Entrez_Gene (NCBI)CACNA1E  777  calcium voltage-gated channel subunit alpha1 E
AliasesBII; CACH6; CACNL1A6; Cav2.3
GeneCards (Weizmann)CACNA1E
Ensembl hg19 (Hinxton)ENSG00000198216 [Gene_View]  chr1:181452686-181775921 [Contig_View]  CACNA1E [Vega]
Ensembl hg38 (Hinxton)ENSG00000198216 [Gene_View]  chr1:181452686-181775921 [Contig_View]  CACNA1E [Vega]
ICGC DataPortalENSG00000198216
TCGA cBioPortalCACNA1E
AceView (NCBI)CACNA1E
Genatlas (Paris)CACNA1E
WikiGenes777
SOURCE (Princeton)CACNA1E
Genetics Home Reference (NIH)CACNA1E
Genomic and cartography
GoldenPath hg19 (UCSC)CACNA1E  -     chr1:181452686-181775921 +  1q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACNA1E  -     1q25.3   [Description]    (hg38-Dec_2013)
EnsemblCACNA1E - 1q25.3 [CytoView hg19]  CACNA1E - 1q25.3 [CytoView hg38]
Mapping of homologs : NCBICACNA1E [Mapview hg19]  CACNA1E [Mapview hg38]
OMIM601013   
Gene and transcription
Genbank (Entrez)AA349993 AB209499 AK096563 AK309070 AW452628
RefSeq transcript (Entrez)NM_000721 NM_001205293 NM_001205294
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)CACNA1E
Cluster EST : UnigeneHs.437444 [ NCBI ]
CGAP (NCI)Hs.437444
Alternative Splicing GalleryENSG00000198216
Gene ExpressionCACNA1E [ NCBI-GEO ]   CACNA1E [ EBI - ARRAY_EXPRESS ]   CACNA1E [ SEEK ]   CACNA1E [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)777
GTEX Portal (Tissue expression)CACNA1E
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15878   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15878  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15878
Splice isoforms : SwissVarQ15878
PhosPhoSitePlusQ15878
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Channel_four-helix_dom    EF_hand_dom    GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_R_a1su    VDCCAlpha1   
Domain families : Pfam (Sanger)Ca_chan_IQ (PF08763)    GPHH (PF16905)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam08763    pfam16905    pfam00520   
Domain families : Smart (EMBL)Ca_chan_IQ (SM01062)  
Conserved Domain (NCBI)CACNA1E
DMDM Disease mutations777
Blocks (Seattle)CACNA1E
PDB (SRS)3BXL   
PDB (PDBSum)3BXL   
PDB (IMB)3BXL   
PDB (RSDB)3BXL   
Structural Biology KnowledgeBase3BXL   
SCOP (Structural Classification of Proteins)3BXL   
CATH (Classification of proteins structures)3BXL   
SuperfamilyQ15878
Human Protein AtlasENSG00000198216
Peptide AtlasQ15878
HPRD03006
IPIIPI00472283   IPI00218338   IPI00165045   IPI00984475   IPI00974219   
Protein Interaction databases
DIP (DOE-UCLA)Q15878
IntAct (EBI)Q15878
FunCoupENSG00000198216
BioGRIDCACNA1E
STRING (EMBL)CACNA1E
ZODIACCACNA1E
Ontologies - Pathways
QuickGOQ15878
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated calcium channel activity  calcium channel activity  calcium ion binding  plasma membrane  voltage-gated calcium channel complex  transport  synaptic transmission  high voltage-gated calcium channel activity  regulation of ion transmembrane transport  regulation of insulin secretion  membrane depolarization  calcium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated calcium channel activity  calcium channel activity  calcium ion binding  plasma membrane  voltage-gated calcium channel complex  transport  synaptic transmission  high voltage-gated calcium channel activity  regulation of ion transmembrane transport  regulation of insulin secretion  membrane depolarization  calcium ion transmembrane transport  membrane depolarization during action potential  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Type II diabetes mellitus   
NDEx NetworkCACNA1E
Atlas of Cancer Signalling NetworkCACNA1E
Wikipedia pathwaysCACNA1E
Orthology - Evolution
OrthoDB777
GeneTree (enSembl)ENSG00000198216
Phylogenetic Trees/Animal Genes : TreeFamCACNA1E
HOVERGENQ15878
HOGENOMQ15878
Homologs : HomoloGeneCACNA1E
Homology/Alignments : Family Browser (UCSC)CACNA1E
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1E
dbVarCACNA1E
ClinVarCACNA1E
1000_GenomesCACNA1E 
Exome Variant ServerCACNA1E
ExAC (Exome Aggregation Consortium)CACNA1E (select the gene name)
Genetic variants : HAPMAP777
Genomic Variants (DGV)CACNA1E [DGVbeta]
DECIPHER (Syndromes)1:181452686-181775921  ENSG00000198216
CONAN: Copy Number AnalysisCACNA1E 
Mutations
ICGC Data PortalCACNA1E 
TCGA Data PortalCACNA1E 
Broad Tumor PortalCACNA1E
OASIS PortalCACNA1E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1E
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 CACNA1E
DgiDB (Drug Gene Interaction Database)CACNA1E
DoCM (Curated mutations)CACNA1E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1E (select a term)
intoGenCACNA1E
Cancer3DCACNA1E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601013   
Orphanet
MedgenCACNA1E
Genetic Testing Registry CACNA1E
NextProtQ15878 [Medical]
TSGene777
GENETestsCACNA1E
Huge Navigator CACNA1E [HugePedia]
snp3D : Map Gene to Disease777
BioCentury BCIQCACNA1E
ClinGenCACNA1E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD777
Chemical/Pharm GKB GenePA26009
Clinical trialCACNA1E
Miscellaneous
canSAR (ICR)CACNA1E (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1E
EVEXCACNA1E
GoPubMedCACNA1E
iHOPCACNA1E
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 12:58:26 CET 2017

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