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CACNA1C (calcium voltage-gated channel subunit alpha1 C)

Identity

Alias_namesCCHL1A1
CACNL1A1
calcium channel
Alias_symbol (synonym)Cav1.2
CACH2
CACN2
TS
LQT8
Other aliasCaV1.2
HGNC (Hugo) CACNA1C
LocusID (NCBI) 775
Atlas_Id 43691
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 2162416 and ends at 2807115 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA1C (12p13.33) / CABIN1 (22q11.23)CACNA1C (12p13.33) / CACNA1C (12p13.33)CACNA1C (12p13.33) / DDX55 (12q24.31)
CACNA1C (12p13.33) / LOC284889 ()CACNA1C (12p13.33) / MNAT1 (14q23.1)CACNA1C (12p13.33) / RHOB (2p24.1)
CACNA1C (12p13.33) / WNT5B (12p13.33)CACNA1C (12p13.33) / WWP2 (16q22.1)MAP1B (5q13.2) / CACNA1C (12p13.33)
RMI2 (16p13.13) / CACNA1C (12p13.33)SEMA4B (15q26.1) / CACNA1C (12p13.33)SOX13 (1q32.1) / CACNA1C (12p13.33)
SYNE1 (6q25.1) / CACNA1C (12p13.33)TBL1XR1 (3q26.32) / CACNA1C (12p13.33)TSPAN9 (12p13.33) / CACNA1C (12p13.33)
CACNA1C 12p13.33 / DDX55 12q24.31CACNA1C 12p13.33 / WNT5B 12p13.33CACNA1C 12p13.33 / WWP2 16q22.1
SYNE1 6q25.1 / CACNA1C 12p13.33TBL1XR1 3q26.32 / CACNA1C 12p13.33TSPAN9 12p13.33 / CACNA1C 12p13.33

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

 


External links

Nomenclature
HGNC (Hugo)CACNA1C   1390
LRG (Locus Reference Genomic)LRG_334
Cards
Entrez_Gene (NCBI)CACNA1C  775  calcium voltage-gated channel subunit alpha1 C
AliasesCACH2; CACN2; CACNL1A1; CCHL1A1; 
CaV1.2; LQT8; TS
GeneCards (Weizmann)CACNA1C
Ensembl hg19 (Hinxton)ENSG00000151067 [Gene_View]  chr12:2162416-2807115 [Contig_View]  CACNA1C [Vega]
Ensembl hg38 (Hinxton)ENSG00000151067 [Gene_View]  chr12:2162416-2807115 [Contig_View]  CACNA1C [Vega]
ICGC DataPortalENSG00000151067
TCGA cBioPortalCACNA1C
AceView (NCBI)CACNA1C
Genatlas (Paris)CACNA1C
WikiGenes775
SOURCE (Princeton)CACNA1C
Genetics Home Reference (NIH)CACNA1C
Genomic and cartography
GoldenPath hg19 (UCSC)CACNA1C  -     chr12:2162416-2807115 +  12p13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACNA1C  -     12p13.33   [Description]    (hg38-Dec_2013)
EnsemblCACNA1C - 12p13.33 [CytoView hg19]  CACNA1C - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBICACNA1C [Mapview hg19]  CACNA1C [Mapview hg38]
OMIM114205   601005   611875   
Gene and transcription
Genbank (Entrez)AB209016 AF070589 AF465484 AJ224873 AJ536834
RefSeq transcript (Entrez)NM_000719 NM_001129827 NM_001129829 NM_001129830 NM_001129831 NM_001129832 NM_001129833 NM_001129834 NM_001129835 NM_001129836 NM_001129837 NM_001129838 NM_001129839 NM_001129840 NM_001129841 NM_001129842 NM_001129843 NM_001129844 NM_001129846 NM_001167623 NM_001167624 NM_001167625 NM_199460
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_008801 NT_009759 NW_004929382
Consensus coding sequences : CCDS (NCBI)CACNA1C
Cluster EST : UnigeneHs.690010 [ NCBI ]
CGAP (NCI)Hs.690010
Alternative Splicing GalleryENSG00000151067
Gene ExpressionCACNA1C [ NCBI-GEO ]   CACNA1C [ EBI - ARRAY_EXPRESS ]   CACNA1C [ SEEK ]   CACNA1C [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)775
GTEX Portal (Tissue expression)CACNA1C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13936   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13936
Splice isoforms : SwissVarQ13936
PhosPhoSitePlusQ13936
Domains : Interpro (EBI)CAC1F_C    Channel_four-helix_dom    GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_L_a1csu    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)CACNA1C
DMDM Disease mutations775
Blocks (Seattle)CACNA1C
PDB (SRS)1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
PDB (PDBSum)1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
PDB (IMB)1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
PDB (RSDB)1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
Structural Biology KnowledgeBase1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
SCOP (Structural Classification of Proteins)1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
CATH (Classification of proteins structures)1T0J    2BE6    2F3Y    2F3Z    2LQC    3G43    3OXQ   
SuperfamilyQ13936
Human Protein AtlasENSG00000151067
Peptide AtlasQ13936
HPRD00246
IPIIPI00016709   IPI00828116   IPI00827775   IPI00794300   IPI00827956   IPI00827998   IPI00827633   IPI00828210   IPI00216095   IPI00827553   IPI00793099   IPI00828000   IPI00828035   IPI00607583   IPI00794357   IPI00827681   IPI00793792   IPI00827855   IPI00827513   IPI00827543   IPI00827578   IPI00798235   IPI00797606   IPI00744784   IPI00900275   IPI00828128   IPI01009352   IPI00828206   IPI00827851   IPI00827887   IPI00827942   IPI00396912   IPI00479852   IPI00954938   IPI00828174   IPI00853140   IPI00384621   IPI00827766   IPI01018730   
Protein Interaction databases
DIP (DOE-UCLA)Q13936
IntAct (EBI)Q13936
FunCoupENSG00000151067
BioGRIDCACNA1C
STRING (EMBL)CACNA1C
ZODIACCACNA1C
Ontologies - Pathways
QuickGOQ13936
Ontology : AmiGOimmune system development  voltage-gated calcium channel activity  voltage-gated calcium channel activity  voltage-gated calcium channel activity  protein binding  calmodulin binding  cytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  positive regulation of cytosolic calcium ion concentration  heart development  high voltage-gated calcium channel activity  high voltage-gated calcium channel activity  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  postsynaptic density  integral component of membrane  Z disc  embryonic forelimb morphogenesis  calcium-mediated signaling using extracellular calcium source  camera-type eye development  metal ion binding  regulation of insulin secretion  alpha-actinin binding  calcium ion transport into cytosol  cardiac conduction  cardiac conduction  calcium ion transmembrane transport via high voltage-gated calcium channel  calcium ion transmembrane transport  calcium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during action potential  membrane depolarization during cardiac muscle cell action potential  membrane depolarization during AV node cell action potential  voltage-gated calcium channel activity involved in AV node cell action potential  cell communication by electrical coupling involved in cardiac conduction  regulation of heart rate by cardiac conduction  regulation of ventricular cardiac muscle cell action potential  membrane depolarization during atrial cardiac muscle cell action potential  L-type voltage-gated calcium channel complex  
Ontology : EGO-EBIimmune system development  voltage-gated calcium channel activity  voltage-gated calcium channel activity  voltage-gated calcium channel activity  protein binding  calmodulin binding  cytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  positive regulation of cytosolic calcium ion concentration  heart development  high voltage-gated calcium channel activity  high voltage-gated calcium channel activity  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  postsynaptic density  integral component of membrane  Z disc  embryonic forelimb morphogenesis  calcium-mediated signaling using extracellular calcium source  camera-type eye development  metal ion binding  regulation of insulin secretion  alpha-actinin binding  calcium ion transport into cytosol  cardiac conduction  cardiac conduction  calcium ion transmembrane transport via high voltage-gated calcium channel  calcium ion transmembrane transport  calcium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  voltage-gated calcium channel activity involved in cardiac muscle cell action potential  membrane depolarization during action potential  membrane depolarization during cardiac muscle cell action potential  membrane depolarization during AV node cell action potential  voltage-gated calcium channel activity involved in AV node cell action potential  cell communication by electrical coupling involved in cardiac conduction  regulation of heart rate by cardiac conduction  regulation of ventricular cardiac muscle cell action potential  membrane depolarization during atrial cardiac muscle cell action potential  L-type voltage-gated calcium channel complex  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Vascular smooth muscle contraction    Circadian entrainment    Long-term potentiation    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    GABAergic synapse    Dopaminergic synapse    Insulin secretion    GnRH signaling pathway    Type II diabetes mellitus    Alzheimer's disease    Amphetamine addiction    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNA1C
Atlas of Cancer Signalling NetworkCACNA1C
Wikipedia pathwaysCACNA1C
Orthology - Evolution
OrthoDB775
GeneTree (enSembl)ENSG00000151067
Phylogenetic Trees/Animal Genes : TreeFamCACNA1C
HOVERGENQ13936
HOGENOMQ13936
Homologs : HomoloGeneCACNA1C
Homology/Alignments : Family Browser (UCSC)CACNA1C
Gene fusions - Rearrangements
Fusion : MitelmanCACNA1C/DDX55 [12p13.33/12q24.31]  
Fusion : MitelmanCACNA1C/WNT5B [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanCACNA1C/WWP2 [12p13.33/16q22.1]  [t(12;16)(p13;q22)]  
Fusion : MitelmanSYNE1/CACNA1C [6q25.1/12p13.33]  [t(6;12)(q25;p13)]  
Fusion : MitelmanTBL1XR1/CACNA1C [3q26.32/12p13.33]  [t(3;12)(q26;p13)]  
Fusion : MitelmanTSPAN9/CACNA1C [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion: TCGACACNA1C 12p13.33 DDX55 12q24.31 PRAD
Fusion: TCGACACNA1C 12p13.33 WNT5B 12p13.33 BRCA
Fusion: TCGACACNA1C 12p13.33 WWP2 16q22.1 PRAD
Fusion: TCGASYNE1 6q25.1 CACNA1C 12p13.33 BRCA
Fusion: TCGATBL1XR1 3q26.32 CACNA1C 12p13.33 BRCA
Fusion: TCGATSPAN9 12p13.33 CACNA1C 12p13.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1C
dbVarCACNA1C
ClinVarCACNA1C
1000_GenomesCACNA1C 
Exome Variant ServerCACNA1C
ExAC (Exome Aggregation Consortium)CACNA1C (select the gene name)
Genetic variants : HAPMAP775
Genomic Variants (DGV)CACNA1C [DGVbeta]
DECIPHER (Syndromes)12:2162416-2807115  ENSG00000151067
CONAN: Copy Number AnalysisCACNA1C 
Mutations
ICGC Data PortalCACNA1C 
TCGA Data PortalCACNA1C 
Broad Tumor PortalCACNA1C
OASIS PortalCACNA1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1C
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
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch CACNA1C
DgiDB (Drug Gene Interaction Database)CACNA1C
DoCM (Curated mutations)CACNA1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1C (select a term)
intoGenCACNA1C
Cancer3DCACNA1C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114205    601005    611875   
Orphanet8022    10865   
MedgenCACNA1C
Genetic Testing Registry CACNA1C
NextProtQ13936 [Medical]
TSGene775
GENETestsCACNA1C
Huge Navigator CACNA1C [HugePedia]
snp3D : Map Gene to Disease775
BioCentury BCIQCACNA1C
ClinGenCACNA1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD775
Chemical/Pharm GKB GenePA83
Clinical trialCACNA1C
Miscellaneous
canSAR (ICR)CACNA1C (select the gene name)
Probes
Litterature
PubMed233 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1C
EVEXCACNA1C
GoPubMedCACNA1C
iHOPCACNA1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:54:46 CEST 2017

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