Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CACNA1G (calcium voltage-gated channel subunit alpha1 G)

Identity

Alias_namescalcium channel, voltage-dependent, T type, alpha 1G subunit
Alias_symbol (synonym)Cav3.1
NBR13
Other aliasCa(V)T.1
SCA42
SCA42ND
HGNC (Hugo) CACNA1G
LocusID (NCBI) 8913
Atlas_Id 901
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50561068 and ends at 50627471 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)
CACNA1G (17q21.33) / CDK18 (1q32.1)CACNA1G (17q21.33) / OBP2B (9q34.2)CACNA1G (17q21.33) / TATDN2 (3p25.3)
NF1 (17q11.2) / CACNA1G (17q21.33)ZNF585B (19q13.12) / CACNA1G (17q21.33)NF1 17q11.2 / CACNA1G 17q21.33
ZNF585B 19q13.12 / CACNA1G 17q21.33

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) [ 3 ]
  t(17;17)(q11;q21) NF1/CACNA1G
t(17;17)(q21;q25) RECQL5/CACNA1G
t(17;19)(q21;q13) ZNF585B/CACNA1G

External links

Nomenclature
HGNC (Hugo)CACNA1G   1394
Cards
Entrez_Gene (NCBI)CACNA1G  8913  calcium voltage-gated channel subunit alpha1 G
AliasesCa(V)T.1; Cav3.1; NBR13; SCA42; 
SCA42ND
GeneCards (Weizmann)CACNA1G
Ensembl hg19 (Hinxton)ENSG00000006283 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006283 [Gene_View]  ENSG00000006283 [Sequence]  chr17:50561068-50627471 [Contig_View]  CACNA1G [Vega]
ICGC DataPortalENSG00000006283
TCGA cBioPortalCACNA1G
AceView (NCBI)CACNA1G
Genatlas (Paris)CACNA1G
WikiGenes8913
SOURCE (Princeton)CACNA1G
Genetics Home Reference (NIH)CACNA1G
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1G  -     chr17:50561068-50627471 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1G  -     17q21.33   [Description]    (hg19-Feb_2009)
GoldenPathCACNA1G - 17q21.33 [CytoView hg19]  CACNA1G - 17q21.33 [CytoView hg38]
ImmunoBaseENSG00000006283
Mapping of homologs : NCBICACNA1G [Mapview hg19]  CACNA1G [Mapview hg38]
OMIM604065   616795   618087   
Gene and transcription
Genbank (Entrez)AB012043 AB032949 AF124351 AF126965 AF126966
RefSeq transcript (Entrez)NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 NM_198397
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1G
Cluster EST : UnigeneHs.591169 [ NCBI ]
CGAP (NCI)Hs.591169
Alternative Splicing GalleryENSG00000006283
Gene ExpressionCACNA1G [ NCBI-GEO ]   CACNA1G [ EBI - ARRAY_EXPRESS ]   CACNA1G [ SEEK ]   CACNA1G [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1G [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8913
GTEX Portal (Tissue expression)CACNA1G
Human Protein AtlasENSG00000006283-CACNA1G [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43497   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43497  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43497
Splice isoforms : SwissVarO43497
PhosPhoSitePlusO43497
Domains : Interpro (EBI)Ion_trans_dom    VDCC_T_a1    VDCC_T_a1G    VDCCAlpha1    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)CACNA1G
DMDM Disease mutations8913
Blocks (Seattle)CACNA1G
SuperfamilyO43497
Human Protein Atlas [tissue]ENSG00000006283-CACNA1G [tissue]
Peptide AtlasO43497
HPRD04961
IPIIPI00299037   IPI00218687   IPI00218688   IPI00218689   IPI00218690   IPI00219390   IPI00219391   IPI00219393   IPI00219394   IPI00219395   IPI00219396   IPI00219397   IPI00219398   IPI00794872   IPI00964641   IPI01009819   IPI00966790   IPI00966433   IPI00967839   IPI00966996   IPI00965139   IPI00967763   IPI00965676   IPI00968035   IPI00966179   IPI00964039   IPI01010803   IPI00966975   IPI00968099   IPI00964592   IPI00966310   IPI01013285   IPI01012623   
Protein Interaction databases
DIP (DOE-UCLA)O43497
IntAct (EBI)O43497
FunCoupENSG00000006283
BioGRIDCACNA1G
STRING (EMBL)CACNA1G
ZODIACCACNA1G
Ontologies - Pathways
QuickGOO43497
Ontology : AmiGOcytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  voltage-gated calcium channel complex  chemical synaptic transmission  low voltage-gated calcium channel activity  low voltage-gated calcium channel activity  response to nickel cation  neuronal action potential  regulation of ion transmembrane transport  regulation of membrane potential  positive regulation of calcium ion-dependent exocytosis  regulation of atrial cardiac muscle cell membrane depolarization  calcium ion import  calcium ion import  calcium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  cardiac muscle cell action potential involved in contraction  membrane depolarization during action potential  SA node cell action potential  AV node cell action potential  SA node cell to atrial cardiac muscle cell signaling  AV node cell to bundle of His cell signaling  membrane depolarization during AV node cell action potential  membrane depolarization during SA node cell action potential  voltage-gated calcium channel activity involved in AV node cell action potential  voltage-gated calcium channel activity involved SA node cell action potential  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  scaffold protein binding  
Ontology : EGO-EBIcytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  voltage-gated calcium channel complex  chemical synaptic transmission  low voltage-gated calcium channel activity  low voltage-gated calcium channel activity  response to nickel cation  neuronal action potential  regulation of ion transmembrane transport  regulation of membrane potential  positive regulation of calcium ion-dependent exocytosis  regulation of atrial cardiac muscle cell membrane depolarization  calcium ion import  calcium ion import  calcium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  cardiac muscle cell action potential involved in contraction  membrane depolarization during action potential  SA node cell action potential  AV node cell action potential  SA node cell to atrial cardiac muscle cell signaling  AV node cell to bundle of His cell signaling  membrane depolarization during AV node cell action potential  membrane depolarization during SA node cell action potential  voltage-gated calcium channel activity involved in AV node cell action potential  voltage-gated calcium channel activity involved SA node cell action potential  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  scaffold protein binding  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Circadian entrainment    Type II diabetes mellitus   
NDEx NetworkCACNA1G
Atlas of Cancer Signalling NetworkCACNA1G
Wikipedia pathwaysCACNA1G
Orthology - Evolution
OrthoDB8913
GeneTree (enSembl)ENSG00000006283
Phylogenetic Trees/Animal Genes : TreeFamCACNA1G
HOGENOMO43497
Homologs : HomoloGeneCACNA1G
Homology/Alignments : Family Browser (UCSC)CACNA1G
Gene fusions - Rearrangements
Fusion : MitelmanNF1/CACNA1G [17q11.2/17q21.33]  [t(17;17)(q11;q21)]  
Fusion : MitelmanZNF585B/CACNA1G [19q13.12/17q21.33]  [t(17;19)(q21;q13)]  
Fusion PortalNF1 17q11.2 CACNA1G 17q21.33 BRCA
Fusion PortalZNF585B 19q13.12 CACNA1G 17q21.33 LUAD
Fusion Cancer (Beijing)CACNA1G [17q21.33]  -  OBP2B [9q34.2]  [FUSC002449]
Fusion : QuiverCACNA1G
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1G [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1G
dbVarCACNA1G
ClinVarCACNA1G
1000_GenomesCACNA1G 
Exome Variant ServerCACNA1G
ExAC (Exome Aggregation Consortium)ENSG00000006283
GNOMAD BrowserENSG00000006283
Varsome BrowserCACNA1G
Genetic variants : HAPMAP8913
Genomic Variants (DGV)CACNA1G [DGVbeta]
DECIPHERCACNA1G [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA1G 
Mutations
ICGC Data PortalCACNA1G 
TCGA Data PortalCACNA1G 
Broad Tumor PortalCACNA1G
OASIS PortalCACNA1G [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1G  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCACNA1G
Mutations and Diseases : HGMDCACNA1G
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 CACNA1G
DgiDB (Drug Gene Interaction Database)CACNA1G
DoCM (Curated mutations)CACNA1G (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1G (select a term)
intoGenCACNA1G
Cancer3DCACNA1G(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604065    616795    618087   
Orphanet23757   
DisGeNETCACNA1G
MedgenCACNA1G
Genetic Testing Registry CACNA1G
NextProtO43497 [Medical]
TSGene8913
GENETestsCACNA1G
Target ValidationCACNA1G
Huge Navigator CACNA1G [HugePedia]
snp3D : Map Gene to Disease8913
BioCentury BCIQCACNA1G
ClinGenCACNA1G
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8913
Chemical/Pharm GKB GenePA381
Clinical trialCACNA1G
Miscellaneous
canSAR (ICR)CACNA1G (select the gene name)
DataMed IndexCACNA1G
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1G
EVEXCACNA1G
GoPubMedCACNA1G
iHOPCACNA1G
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:35:06 CET 2019
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