Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CACNA1A (calcium voltage-gated channel subunit alpha1 A)

Identity

Alias_namesCACNL1A4
SCA6
MHP1
MHP
calcium channel
Alias_symbol (synonym)Cav2.1
EA2
APCA
HPCA
FHM
Other aliasBI
CAV2.1
EIEE42
HGNC (Hugo) CACNA1A
LocusID (NCBI) 773
Atlas_Id 56224
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 13317256 and ends at 13617274 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA1A (19p13.2) / DNAJC13 (3q22.1)CACNA1A (19p13.2) / ZNF44 (19p13.2)ZNF302 (19q13.11) / CACNA1A (19p13.2)

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)CACNA1A   1388
LRG (Locus Reference Genomic)LRG_7
Cards
Entrez_Gene (NCBI)CACNA1A  773  calcium voltage-gated channel subunit alpha1 A
AliasesAPCA; BI; CACNL1A4; CAV2.1; 
EA2; EIEE42; FHM; HPCA; MHP; MHP1; SCA6
GeneCards (Weizmann)CACNA1A
Ensembl hg19 (Hinxton)ENSG00000141837 [Gene_View]  chr19:13317256-13617274 [Contig_View]  CACNA1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000141837 [Gene_View]  chr19:13317256-13617274 [Contig_View]  CACNA1A [Vega]
ICGC DataPortalENSG00000141837
TCGA cBioPortalCACNA1A
AceView (NCBI)CACNA1A
Genatlas (Paris)CACNA1A
WikiGenes773
SOURCE (Princeton)CACNA1A
Genetics Home Reference (NIH)CACNA1A
Genomic and cartography
GoldenPath hg19 (UCSC)CACNA1A  -     chr19:13317256-13617274 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACNA1A  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblCACNA1A - 19p13.2 [CytoView hg19]  CACNA1A - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBICACNA1A [Mapview hg19]  CACNA1A [Mapview hg38]
OMIM108500   141500   183086   601011   617106   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_000068 NM_001127221 NM_001127222 NM_001174080 NM_023035
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1A
Cluster EST : UnigeneHs.501632 [ NCBI ]
CGAP (NCI)Hs.501632
Alternative Splicing GalleryENSG00000141837
Gene ExpressionCACNA1A [ NCBI-GEO ]   CACNA1A [ EBI - ARRAY_EXPRESS ]   CACNA1A [ SEEK ]   CACNA1A [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)773
GTEX Portal (Tissue expression)CACNA1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00555   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00555  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00555
Splice isoforms : SwissVarO00555
PhosPhoSitePlusO00555
Domains : Interpro (EBI)CACNA1A    Channel_four-helix_dom    GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    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)CACNA1A
DMDM Disease mutations773
Blocks (Seattle)CACNA1A
PDB (SRS)3BXK   
PDB (PDBSum)3BXK   
PDB (IMB)3BXK   
PDB (RSDB)3BXK   
Structural Biology KnowledgeBase3BXK   
SCOP (Structural Classification of Proteins)3BXK   
CATH (Classification of proteins structures)3BXK   
SuperfamilyO00555
Human Protein AtlasENSG00000141837
Peptide AtlasO00555
HPRD03004
IPIIPI00012136   IPI00291347   IPI00217497   IPI00217498   IPI00397553   IPI00397554   IPI00903123   IPI00956225   IPI00217499   IPI00956346   
Protein Interaction databases
DIP (DOE-UCLA)O00555
IntAct (EBI)O00555
FunCoupENSG00000141837
BioGRIDCACNA1A
STRING (EMBL)CACNA1A
ZODIACCACNA1A
Ontologies - Pathways
QuickGOO00555
Ontology : AmiGOsulfur amino acid metabolic process  voltage-gated calcium channel activity  voltage-gated calcium channel activity  voltage-gated calcium channel activity  calcium channel activity  protein binding  nucleus  cytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  glucose metabolic process  positive regulation of cytosolic calcium ion concentration  positive regulation of cytosolic calcium ion concentration  gamma-aminobutyric acid signaling pathway  neuromuscular synaptic transmission  synapse assembly  adult walking behavior  cell death  high voltage-gated calcium channel activity  gamma-aminobutyric acid secretion  regulation of acetylcholine secretion, neurotransmission  integral component of membrane  integral component of membrane  cell growth  regulation of calcium ion-dependent exocytosis  transmission of nerve impulse  syntaxin binding  spinal cord motor neuron differentiation  cerebellum maturation  cerebellar molecular layer development  cerebellar Purkinje cell differentiation  vestibular nucleus development  dendrite  cellular chloride ion homeostasis  negative regulation of hormone biosynthetic process  regulation of ion transmembrane transport  synaptic transmission, glutamatergic  neurotransmitter metabolic process  hormone metabolic process  cell projection  neuronal cell body  receptor clustering  negative regulation of neuron apoptotic process  metal ion binding  behavioral response to pain  calcium ion-regulated exocytosis of neurotransmitter  dendrite morphogenesis  regulation of axonogenesis  regulation of insulin secretion  musculoskeletal movement, spinal reflex action  neuromuscular process controlling balance  membrane depolarization  rhythmic synaptic transmission  calcium ion transmembrane transport  membrane depolarization during action potential  presynapse  
Ontology : EGO-EBIsulfur amino acid metabolic process  voltage-gated calcium channel activity  voltage-gated calcium channel activity  voltage-gated calcium channel activity  calcium channel activity  protein binding  nucleus  cytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  glucose metabolic process  positive regulation of cytosolic calcium ion concentration  positive regulation of cytosolic calcium ion concentration  gamma-aminobutyric acid signaling pathway  neuromuscular synaptic transmission  synapse assembly  adult walking behavior  cell death  high voltage-gated calcium channel activity  gamma-aminobutyric acid secretion  regulation of acetylcholine secretion, neurotransmission  integral component of membrane  integral component of membrane  cell growth  regulation of calcium ion-dependent exocytosis  transmission of nerve impulse  syntaxin binding  spinal cord motor neuron differentiation  cerebellum maturation  cerebellar molecular layer development  cerebellar Purkinje cell differentiation  vestibular nucleus development  dendrite  cellular chloride ion homeostasis  negative regulation of hormone biosynthetic process  regulation of ion transmembrane transport  synaptic transmission, glutamatergic  neurotransmitter metabolic process  hormone metabolic process  cell projection  neuronal cell body  receptor clustering  negative regulation of neuron apoptotic process  metal ion binding  behavioral response to pain  calcium ion-regulated exocytosis of neurotransmitter  dendrite morphogenesis  regulation of axonogenesis  regulation of insulin secretion  musculoskeletal movement, spinal reflex action  neuromuscular process controlling balance  membrane depolarization  rhythmic synaptic transmission  calcium ion transmembrane transport  membrane depolarization during action potential  presynapse  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Synaptic vesicle cycle    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    GABAergic synapse    Dopaminergic synapse    Long-term depression    Taste transduction    Type II diabetes mellitus    Morphine addiction    Nicotine addiction   
NDEx NetworkCACNA1A
Atlas of Cancer Signalling NetworkCACNA1A
Wikipedia pathwaysCACNA1A
Orthology - Evolution
OrthoDB773
GeneTree (enSembl)ENSG00000141837
Phylogenetic Trees/Animal Genes : TreeFamCACNA1A
HOVERGENO00555
HOGENOMO00555
Homologs : HomoloGeneCACNA1A
Homology/Alignments : Family Browser (UCSC)CACNA1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1A
dbVarCACNA1A
ClinVarCACNA1A
1000_GenomesCACNA1A 
Exome Variant ServerCACNA1A
ExAC (Exome Aggregation Consortium)CACNA1A (select the gene name)
Genetic variants : HAPMAP773
Genomic Variants (DGV)CACNA1A [DGVbeta]
DECIPHER (Syndromes)19:13317256-13617274  ENSG00000141837
CONAN: Copy Number AnalysisCACNA1A 
Mutations
ICGC Data PortalCACNA1A 
TCGA Data PortalCACNA1A 
Broad Tumor PortalCACNA1A
OASIS PortalCACNA1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1A
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)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Familial Hemiplegic Migraine (FHM) Variation Database
BioMutasearch CACNA1A
DgiDB (Drug Gene Interaction Database)CACNA1A
DoCM (Curated mutations)CACNA1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1A (select a term)
intoGenCACNA1A
Cancer3DCACNA1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108500    141500    183086    601011    617106   
Orphanet264    748    1031    11018    13775   
MedgenCACNA1A
Genetic Testing Registry CACNA1A
NextProtO00555 [Medical]
TSGene773
GENETestsCACNA1A
Huge Navigator CACNA1A [HugePedia]
snp3D : Map Gene to Disease773
BioCentury BCIQCACNA1A
ClinGenCACNA1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD773
Chemical/Pharm GKB GenePA26007
Clinical trialCACNA1A
Miscellaneous
canSAR (ICR)CACNA1A (select the gene name)
Probes
Litterature
PubMed205 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1A
EVEXCACNA1A
GoPubMedCACNA1A
iHOPCACNA1A
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 : Thu Mar 30 14:54:46 CEST 2017

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