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CACNA1B (calcium channel, voltage-dependent, N type, alpha 1B subunit)

Identity

Alias_namesCACNL1A5
calcium channel, voltage-dependent, N type, alpha 1B subunit
Alias_symbol (synonym)Cav2.2
CACNN
Other aliasBIII
DYT23
HGNC (Hugo) CACNA1B
LocusID (NCBI) 774
Atlas_Id 61356
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 140772241 and ends at 141019076 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V0A1 (17q21.2) / CACNA1B (9q34.3)CACNA1B (9q34.3) / CALM1 (14q32.11)EHMT1 (9q34.3) / CACNA1B (9q34.3)
EXD3 (9q34.3) / CACNA1B (9q34.3)GRIN1 (9q34.3) / CACNA1B (9q34.3)PRPF18 (10p13) / CACNA1B (9q34.3)
SV2A (1q21.2) / CACNA1B (9q34.3)

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)CACNA1B   1389
Cards
Entrez_Gene (NCBI)CACNA1B  774  calcium channel, voltage-dependent, N type, alpha 1B subunit
AliasesBIII; CACNL1A5; CACNN; Cav2.2; 
DYT23
GeneCards (Weizmann)CACNA1B
Ensembl hg19 (Hinxton)ENSG00000148408 [Gene_View]  chr9:140772241-141019076 [Contig_View]  CACNA1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000148408 [Gene_View]  chr9:140772241-141019076 [Contig_View]  CACNA1B [Vega]
ICGC DataPortalENSG00000148408
TCGA cBioPortalCACNA1B
AceView (NCBI)CACNA1B
Genatlas (Paris)CACNA1B
WikiGenes774
SOURCE (Princeton)CACNA1B
Genetics Home Reference (NIH)CACNA1B
Genomic and cartography
GoldenPath hg19 (UCSC)CACNA1B  -     chr9:140772241-141019076 +  9q34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACNA1B  -     9q34.3   [Description]    (hg38-Dec_2013)
EnsemblCACNA1B - 9q34.3 [CytoView hg19]  CACNA1B - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBICACNA1B [Mapview hg19]  CACNA1B [Mapview hg38]
OMIM601012   614860   
Gene and transcription
Genbank (Entrez)AB209467 AY429522 AY429523 BC033060 M94172
RefSeq transcript (Entrez)NM_000718 NM_001243812
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929369
Consensus coding sequences : CCDS (NCBI)CACNA1B
Cluster EST : UnigeneHs.495522 [ NCBI ]
CGAP (NCI)Hs.495522
Alternative Splicing GalleryENSG00000148408
Gene ExpressionCACNA1B [ NCBI-GEO ]   CACNA1B [ EBI - ARRAY_EXPRESS ]   CACNA1B [ SEEK ]   CACNA1B [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)774
GTEX Portal (Tissue expression)CACNA1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00975   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00975  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00975
Splice isoforms : SwissVarQ00975
PhosPhoSitePlusQ00975
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Channel_four-helix_dom    EF_hand_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_N_a1su    VDCCAlpha1   
Domain families : Pfam (Sanger)Ca_chan_IQ (PF08763)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam08763    pfam00520   
Domain families : Smart (EMBL)Ca_chan_IQ (SM01062)  
Conserved Domain (NCBI)CACNA1B
DMDM Disease mutations774
Blocks (Seattle)CACNA1B
PDB (SRS)2LCM   
PDB (PDBSum)2LCM   
PDB (IMB)2LCM   
PDB (RSDB)2LCM   
Structural Biology KnowledgeBase2LCM   
SCOP (Structural Classification of Proteins)2LCM   
CATH (Classification of proteins structures)2LCM   
SuperfamilyQ00975
Human Protein AtlasENSG00000148408
Peptide AtlasQ00975
HPRD03005
IPIIPI00220431   IPI00025477   IPI00029502   IPI00744508   IPI00029505   IPI00889565   IPI00645750   IPI00553112   IPI00642867   
Protein Interaction databases
DIP (DOE-UCLA)Q00975
IntAct (EBI)Q00975
FunCoupENSG00000148408
BioGRIDCACNA1B
STRING (EMBL)CACNA1B
ZODIACCACNA1B
Ontologies - Pathways
QuickGOQ00975
Ontology : AmiGOvoltage-gated calcium channel activity  calcium ion binding  protein binding  ATP binding  plasma membrane  plasma membrane  voltage-gated calcium channel complex  transport  calcium ion transport  synaptic transmission  neurotransmitter secretion  locomotory behavior  regulation of heart contraction  protein C-terminus binding  regulation of blood pressure  high voltage-gated calcium channel activity  dendrite  ion transmembrane transport  regulation of ion transmembrane transport  neuronal cell body  response to pain  membrane depolarization  regulation of calcium ion transport  calcium ion import  calcium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated calcium channel activity  calcium ion binding  protein binding  ATP binding  plasma membrane  plasma membrane  voltage-gated calcium channel complex  transport  calcium ion transport  synaptic transmission  neurotransmitter secretion  locomotory behavior  regulation of heart contraction  protein C-terminus binding  regulation of blood pressure  high voltage-gated calcium channel activity  dendrite  ion transmembrane transport  regulation of ion transmembrane transport  neuronal cell body  response to pain  membrane depolarization  regulation of calcium ion transport  calcium ion import  calcium ion transmembrane transport  membrane depolarization during action potential  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Synaptic vesicle cycle    Retrograde endocannabinoid signaling    Cholinergic synapse    Serotonergic synapse    GABAergic synapse    Dopaminergic synapse    Taste transduction    Type II diabetes mellitus    Morphine addiction    Nicotine addiction   
NDEx NetworkCACNA1B
Atlas of Cancer Signalling NetworkCACNA1B
Wikipedia pathwaysCACNA1B
Orthology - Evolution
OrthoDB774
GeneTree (enSembl)ENSG00000148408
Phylogenetic Trees/Animal Genes : TreeFamCACNA1B
HOVERGENQ00975
HOGENOMQ00975
Homologs : HomoloGeneCACNA1B
Homology/Alignments : Family Browser (UCSC)CACNA1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1B
dbVarCACNA1B
ClinVarCACNA1B
1000_GenomesCACNA1B 
Exome Variant ServerCACNA1B
ExAC (Exome Aggregation Consortium)CACNA1B (select the gene name)
Genetic variants : HAPMAP774
Genomic Variants (DGV)CACNA1B [DGVbeta]
DECIPHER (Syndromes)9:140772241-141019076  ENSG00000148408
CONAN: Copy Number AnalysisCACNA1B 
Mutations
ICGC Data PortalCACNA1B 
TCGA Data PortalCACNA1B 
Broad Tumor PortalCACNA1B
OASIS PortalCACNA1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1B
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 CACNA1B
DgiDB (Drug Gene Interaction Database)CACNA1B
DoCM (Curated mutations)CACNA1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1B (select a term)
intoGenCACNA1B
Cancer3DCACNA1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601012    614860   
Orphanet
MedgenCACNA1B
Genetic Testing Registry CACNA1B
NextProtQ00975 [Medical]
TSGene774
GENETestsCACNA1B
Huge Navigator CACNA1B [HugePedia]
snp3D : Map Gene to Disease774
BioCentury BCIQCACNA1B
ClinGenCACNA1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD774
Chemical/Pharm GKB GenePA26008
Clinical trialCACNA1B
Miscellaneous
canSAR (ICR)CACNA1B (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1B
EVEXCACNA1B
GoPubMedCACNA1B
iHOPCACNA1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:57:55 CET 2017

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