Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2)

Identity

Alias_namescalcium channel
Alias_symbol (synonym)stargazin
MGC138502
MGC138504
Other aliasMRD10
HGNC (Hugo) CACNG2
LocusID (NCBI) 10369
Atlas_Id 55972
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 36560869 and ends at 36702858 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)

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)CACNG2   1406
LRG (Locus Reference Genomic)LRG_1159
Cards
Entrez_Gene (NCBI)CACNG2  10369  calcium voltage-gated channel auxiliary subunit gamma 2
AliasesMRD10
GeneCards (Weizmann)CACNG2
Ensembl hg19 (Hinxton)ENSG00000166862 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166862 [Gene_View]  ENSG00000166862 [Sequence]  chr22:36560869-36702858 [Contig_View]  CACNG2 [Vega]
ICGC DataPortalENSG00000166862
TCGA cBioPortalCACNG2
AceView (NCBI)CACNG2
Genatlas (Paris)CACNG2
WikiGenes10369
SOURCE (Princeton)CACNG2
Genetics Home Reference (NIH)CACNG2
Genomic and cartography
GoldenPath hg38 (UCSC)CACNG2  -     chr22:36560869-36702858 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNG2  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblCACNG2 - 22q12.3 [CytoView hg19]  CACNG2 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBICACNG2 [Mapview hg19]  CACNG2 [Mapview hg38]
OMIM602911   614256   
Gene and transcription
Genbank (Entrez)AF096322 AK123431 BC069612 BC112297 BC112299
RefSeq transcript (Entrez)NM_006078
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNG2
Cluster EST : UnigeneHs.146766 [ NCBI ]
CGAP (NCI)Hs.146766
Alternative Splicing GalleryENSG00000166862
Gene ExpressionCACNG2 [ NCBI-GEO ]   CACNG2 [ EBI - ARRAY_EXPRESS ]   CACNG2 [ SEEK ]   CACNG2 [ MEM ]
Gene Expression Viewer (FireBrowse)CACNG2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10369
GTEX Portal (Tissue expression)CACNG2
Human Protein AtlasENSG00000166862-CACNG2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y698   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y698  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y698
Splice isoforms : SwissVarQ9Y698
PhosPhoSitePlusQ9Y698
Domains : Interpro (EBI)PMP22/EMP/MP20/Claudin    VDCC_g2su    VDCC_gsu   
Domain families : Pfam (Sanger)PMP22_Claudin (PF00822)   
Domain families : Pfam (NCBI)pfam00822   
Conserved Domain (NCBI)CACNG2
DMDM Disease mutations10369
Blocks (Seattle)CACNG2
SuperfamilyQ9Y698
Human Protein Atlas [tissue]ENSG00000166862-CACNG2 [tissue]
Peptide AtlasQ9Y698
HPRD04220
IPIIPI00001962   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y698
IntAct (EBI)Q9Y698
FunCoupENSG00000166862
BioGRIDCACNG2
STRING (EMBL)CACNG2
ZODIACCACNG2
Ontologies - Pathways
QuickGOQ9Y698
Ontology : AmiGOvoltage-gated calcium channel activity  calcium channel activity  protein binding  cytosol  plasma membrane  voltage-gated calcium channel complex  protein targeting to membrane  neuromuscular junction development  cell surface  channel regulator activity  transmission of nerve impulse  cell junction  endocytic vesicle membrane  AMPA glutamate receptor complex  AMPA glutamate receptor complex  ionotropic glutamate receptor binding  somatodendritic compartment  cerebellar mossy fiber  response to calcium ion  membrane depolarization  positive regulation of synaptic transmission, glutamatergic  membrane hyperpolarization  eye blink reflex  calcium ion transmembrane transport  Schaffer collateral - CA1 synapse  hippocampal mossy fiber to CA3 synapse  postsynaptic density membrane  neurotransmitter receptor transport, postsynaptic endosome to lysosome  postsynaptic neurotransmitter receptor diffusion trapping  glutamatergic synapse  integral component of postsynaptic density membrane  neurotransmitter receptor internalization  neurotransmitter receptor localization to postsynaptic specialization membrane  positive regulation of protein localization to basolateral plasma membrane  regulation of AMPA receptor activity  regulation of AMPA receptor activity  positive regulation of AMPA receptor activity  
Ontology : EGO-EBIvoltage-gated calcium channel activity  calcium channel activity  protein binding  cytosol  plasma membrane  voltage-gated calcium channel complex  protein targeting to membrane  neuromuscular junction development  cell surface  channel regulator activity  transmission of nerve impulse  cell junction  endocytic vesicle membrane  AMPA glutamate receptor complex  AMPA glutamate receptor complex  ionotropic glutamate receptor binding  somatodendritic compartment  cerebellar mossy fiber  response to calcium ion  membrane depolarization  positive regulation of synaptic transmission, glutamatergic  membrane hyperpolarization  eye blink reflex  calcium ion transmembrane transport  Schaffer collateral - CA1 synapse  hippocampal mossy fiber to CA3 synapse  postsynaptic density membrane  neurotransmitter receptor transport, postsynaptic endosome to lysosome  postsynaptic neurotransmitter receptor diffusion trapping  glutamatergic synapse  integral component of postsynaptic density membrane  neurotransmitter receptor internalization  neurotransmitter receptor localization to postsynaptic specialization membrane  positive regulation of protein localization to basolateral plasma membrane  regulation of AMPA receptor activity  regulation of AMPA receptor activity  positive regulation of AMPA receptor activity  
Pathways : KEGGMAPK signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNG2
Atlas of Cancer Signalling NetworkCACNG2
Wikipedia pathwaysCACNG2
Orthology - Evolution
OrthoDB10369
GeneTree (enSembl)ENSG00000166862
Phylogenetic Trees/Animal Genes : TreeFamCACNG2
HOVERGENQ9Y698
HOGENOMQ9Y698
Homologs : HomoloGeneCACNG2
Homology/Alignments : Family Browser (UCSC)CACNG2
Gene fusions - Rearrangements
Fusion : QuiverCACNG2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNG2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNG2
dbVarCACNG2
ClinVarCACNG2
1000_GenomesCACNG2 
Exome Variant ServerCACNG2
ExAC (Exome Aggregation Consortium)ENSG00000166862
GNOMAD BrowserENSG00000166862
Varsome BrowserCACNG2
Genetic variants : HAPMAP10369
Genomic Variants (DGV)CACNG2 [DGVbeta]
DECIPHERCACNG2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNG2 
Mutations
ICGC Data PortalCACNG2 
TCGA Data PortalCACNG2 
Broad Tumor PortalCACNG2
OASIS PortalCACNG2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNG2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNG2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CACNG2
DgiDB (Drug Gene Interaction Database)CACNG2
DoCM (Curated mutations)CACNG2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNG2 (select a term)
intoGenCACNG2
Cancer3DCACNG2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602911    614256   
Orphanet18028   
DisGeNETCACNG2
MedgenCACNG2
Genetic Testing Registry CACNG2
NextProtQ9Y698 [Medical]
TSGene10369
GENETestsCACNG2
Target ValidationCACNG2
Huge Navigator CACNG2 [HugePedia]
snp3D : Map Gene to Disease10369
BioCentury BCIQCACNG2
ClinGenCACNG2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10369
Chemical/Pharm GKB GenePA26016
Clinical trialCACNG2
Miscellaneous
canSAR (ICR)CACNG2 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNG2
EVEXCACNG2
GoPubMedCACNG2
iHOPCACNG2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:55:21 CET 2018
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