Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CACNA1E (calcium voltage-gated channel subunit alpha1 E)

Identity

Alias (NCBI)BII
CACH6
CACNL1A6
Cav2.3
EIEE69
gm139
HGNC (Hugo) CACNA1E
HGNC Alias symbCav2.3
BII
CACH6
HGNC Previous nameCACNL1A6
HGNC Previous namecalcium channel, voltage-dependent, R type, alpha 1E subunit
 calcium voltage-gated channel subunit alpha1 subunit E
LocusID (NCBI) 777
Atlas_Id 46611
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 181483517 and ends at 181808084 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    calcium voltage-gated channel subunit alpha1 E
AliasesBII; CACH6; CACNL1A6; Cav2.3; 
EIEE69; gm139
GeneCards (Weizmann)CACNA1E
Ensembl hg19 (Hinxton)ENSG00000198216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198216 [Gene_View]  ENSG00000198216 [Sequence]  chr1:181483517-181808084 [Contig_View]  CACNA1E [Vega]
ICGC DataPortalENSG00000198216
TCGA cBioPortalCACNA1E
AceView (NCBI)CACNA1E
Genatlas (Paris)CACNA1E
SOURCE (Princeton)CACNA1E
Genetics Home Reference (NIH)CACNA1E
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1E  -     chr1:181483517-181808084 +  1q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1E  -     1q25.3   [Description]    (hg19-Feb_2009)
GoldenPathCACNA1E - 1q25.3 [CytoView hg19]  CACNA1E - 1q25.3 [CytoView hg38]
ImmunoBaseENSG00000198216
genome Data Viewer NCBICACNA1E [Mapview hg19]  
OMIM601013   618285   
Gene and transcription
Genbank (Entrez)AA349993 AB209499 AF387615 AK096563 AK309070
RefSeq transcript (Entrez)NM_000721 NM_001205293 NM_001205294
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1E
Alternative Splicing GalleryENSG00000198216
Gene ExpressionCACNA1E [ NCBI-GEO ]   CACNA1E [ EBI - ARRAY_EXPRESS ]   CACNA1E [ SEEK ]   CACNA1E [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1E [ Firebrowse - Broad ]
GenevisibleExpression of CACNA1E in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)777
GTEX Portal (Tissue expression)CACNA1E
Human Protein AtlasENSG00000198216-CACNA1E [pathology]   [cell]   [tissue]
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)EF_hand_dom    GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_R_a1su    VDCCAlpha1    Volt_channel_dom_sf   
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
Blocks (Seattle)CACNA1E
PDB (RSDB)3BXL   
PDB Europe3BXL   
PDB (PDBSum)3BXL   
PDB (IMB)3BXL   
Structural Biology KnowledgeBase3BXL   
SCOP (Structural Classification of Proteins)3BXL   
CATH (Classification of proteins structures)3BXL   
SuperfamilyQ15878
Human Protein Atlas [tissue]ENSG00000198216-CACNA1E [tissue]
Peptide AtlasQ15878
HPRD03006
IPIIPI00472283   IPI00218338   IPI00165045   IPI00984475   IPI00974219   
Protein Interaction databases
DIP (DOE-UCLA)Q15878
IntAct (EBI)Q15878
BioGRIDCACNA1E
STRING (EMBL)CACNA1E
ZODIACCACNA1E
Ontologies - Pathways
QuickGOQ15878
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated calcium channel activity  calcium ion binding  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  chemical synaptic transmission  voltage-gated cation channel activity  regulation of ion transmembrane transport  synapse  regulation of insulin secretion  membrane depolarization  calcium ion import  calcium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated calcium channel activity  calcium ion binding  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  chemical synaptic transmission  voltage-gated cation channel activity  regulation of ion transmembrane transport  synapse  regulation of insulin secretion  membrane depolarization  calcium ion import  calcium ion transmembrane transport  
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
HOGENOMQ15878
Homologs : HomoloGeneCACNA1E
Homology/Alignments : Family Browser (UCSC)CACNA1E
Gene fusions - Rearrangements
Fusion : QuiverCACNA1E
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1E [hg38]
dbVarCACNA1E
ClinVarCACNA1E
MonarchCACNA1E
1000_GenomesCACNA1E 
Exome Variant ServerCACNA1E
GNOMAD BrowserENSG00000198216
Varsome BrowserCACNA1E
Genomic Variants (DGV)CACNA1E [DGVbeta]
DECIPHERCACNA1E [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCACNA1E
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601013    618285   
Orphanet
DisGeNETCACNA1E
MedgenCACNA1E
Genetic Testing Registry CACNA1E
NextProtQ15878 [Medical]
GENETestsCACNA1E
Target ValidationCACNA1E
Huge Navigator CACNA1E [HugePedia]
ClinGenCACNA1E
Clinical trials, drugs, therapy
MyCancerGenomeCACNA1E
Protein Interactions : CTD
Pharm GKB GenePA26009
Pharm GKB PathwaysPA152241951   PA2030   
PharosQ15878
Clinical trialCACNA1E
Miscellaneous
canSAR (ICR)CACNA1E (select the gene name)
HarmonizomeCACNA1E
DataMed IndexCACNA1E
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCACNA1E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:08:02 CET 2021
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