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CACNB2 Gene

protein-coding   GIFtS: 67
GCID: GC10P018469

Calcium Channel, Voltage-Dependent, Beta 2 Subunit


(Previous symbols: MYSB, CACNLB2)
  See CACNB2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium Channel, Voltage-Dependent, Beta 2 Subunit1 2     CAB22 3
CACNLB21 2 3     CAVB22
MYSB1 2 3     Myasthenic (Lambert-Eaton) Syndrome Antigen B2
Calcium Channel Voltage-Dependent Subunit Beta 22 3     Voltage-Dependent L-Type Calcium Channel Subunit Beta-22
Lambert-Eaton Myasthenic Syndrome Antigen B2 3     

External Ids:    HGNC: 14021   Entrez Gene: 7832   Ensembl: ENSG000001659957   OMIM: 6000035   UniProtKB: Q082893   

Export aliases for CACNB2 gene to outside databases

Previous GC identifers: GC10P018165 GC10P018266 GC10P018579 GC10P018433


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CACNB2 Gene:
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated
calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton
myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome.
Alternatively spliced variants encoding different isoforms have been described. (provided by RefSeq, Feb 2013)

GeneCards Summary for CACNB2 Gene:
CACNB2 (calcium channel, voltage-dependent, beta 2 subunit) is a protein-coding gene. Diseases associated with CACNB2 include brugada syndrome 4, and lambert-eaton myasthenic syndrome. GO annotations related to this gene include high voltage-gated calcium channel activity and calcium channel activity. An important paralog of this gene is CACNB4.

UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289
Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium
channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation,
modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting

Gene Wiki entry for CACNB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNB2 gene promoter:
         COUP-TF1   LHX3b/Lhx3b   COUP   Lmo2   HNF-4alpha1   COUP-TF   FOXO4   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNB2 promoter sequence
   Search Chromatin IP Primers for CACNB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p12   Ensembl cytogenetic band:  10p12.33   HGNC cytogenetic band: 10p12

CACNB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNB2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P018469:  view genomic region     (about GC identifiers)

Start:
18,429,606 bp from pter      End:
18,830,798 bp from pter
Size:
401,193 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CACNB2

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289 (See protein sequence)
Recommended Name: Voltage-dependent L-type calcium channel subunit beta-2  
Size: 660 amino acids; 73581 Da
Subunit: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with
CAMK2D (By similarity). Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the
cell membrane. Interacts with TMIGD2
Sequence caution: Sequence=AAB51370.1; Type=Frameshift; Positions=515;
Secondary accessions: A6PVM5 A6PVM7 A6PVM8 O00304 Q5QJ99 Q5QJA0 Q5VVG9 Q5VVH0 Q5VWV6 Q6TME1
Q6TME2 Q6TME3 Q8WX81 Q96NZ3 Q96NZ4 Q96NZ5 Q9BWU2 Q9HD32 Q9Y340 Q9Y341
Alternative splicing: 10 isoforms:  Q08289-1   Q08289-2   Q08289-3   Q08289-4   Q08289-5   Q08289-6   Q08289-7   Q08289-8   
Q08289-9   Q08289-10   

Explore the universe of human proteins at neXtProt for CACNB2: NX_Q08289

Explore proteomics data for CACNB2 at MOPED

Post-translational modifications: 

  • Regulated through phosphorylation at Thr-554 by CaMK2D (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CACNB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_000715.2  NP_001161417.1  NP_963864.1  NP_963865.2  NP_963866.2  NP_963884.2  NP_963887.2  NP_963890.2  
    NP_963891.1  

    ENSEMBL proteins: 
     ENSP00000320025   ENSP00000344474   ENSP00000366545   ENSP00000282343   ENSP00000366548  
     ENSP00000379821   ENSP00000366536   ENSP00000366546   ENSP00000366532  
    Reactome Protein details: Q08289

    CACNB2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CACNB2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CACNB2
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    Novus Biologicals CACNB2 Protein
    Novus Biologicals CACNB2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CACNB2 

     
    antibodies-online proteins for CACNB2 (3 products) 

     
    antibodies-online peptides for CACNB2

    CACNB2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CACNB2
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    Abcam antibodies for CACNB2
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CACNB2
    antibodies-online antibodies for CACNB2 (100 products) 

    CACNB2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CACNB2 
    antibodies-online kits for CACNB2 (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CACN: Calcium channel subunits

    5 InterPro protein domains:
     IPR008145 GK/Ca_channel_bsu
     IPR000584 VDCC_L_bsu
     IPR001452 SH3_domain
     IPR005444 VDCC_L_b2su
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q08289

    ProtoNet protein and cluster: Q08289

    2 Blocks protein domains:
    IPB000584 L-type calcium channel beta subunit signature
    IPB005444 L-type calcium channel beta-2 subunit signature


    UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289
    Similarity: Belongs to the calcium channel beta subunit family
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with CACNB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CACB2_HUMAN, Q08289
    Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium
    channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation,
    modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting

         Genatlas biochemistry entry for CACNB2:
    calcium voltage-gated channel (VDCC),L (long lasting) type,dehydropyridine (DHP) sensitive,beta 2 regulatory
    subunit,55kDa

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IDA1309651
    GO:0005262calcium channel activity NAS9594024
    GO:0005515protein binding IPI17525370
    GO:0008331contributes to high voltage-gated calcium channel activity IDA1309651
         
    Find genes that share ontologies with CACNB2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CACNB2:
     Proliferating cells 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cacnb2):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  mortality/aging  nervous system  vision/eye 

    Find genes that share phenotypes with CACNB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CACNB2: Cacnb2tm1.1Mfre Cacnb2tm1Rgg

       genOway: Develop your customized and physiologically relevant rodent model for CACNB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CACNB2:
    hsa-mir-26b-5p (MIRT029034), hsa-mir-16-5p (MIRT051063)

    Block miRNA regulation of human, mouse, rat CACNB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CACNB2 (see all 88):
    hsa-miR-3678-3p hsa-miR-300 hsa-miR-128 hsa-miR-4305 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidCACNB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CACNB2
    Predesigned siRNA for gene silencing in human, mouse, rat CACNB2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 9): CACNB2 (NM_001167945)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CACNB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CACNB2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CACB2_HUMAN, Q08289: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytosol2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane NAS9594024
    GO:0005891voltage-gated calcium channel complex IDA1309651
    GO:0042383sarcolemma IEA--

    Find genes that share ontologies with CACNB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNB2 About   (see all 31)  
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels0.00
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3TCR Signaling (Qiagen)
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    4Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77


    Find genes that share SuperPaths with CACNB2           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNB2 (see all 38)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNB2
        Transcription CREB pathway

    1 BioSystems Pathway for CACNB2
        Arrhythmogenic right ventricular cardiomyopathy

    4 Reactome Pathways for CACNB2
        NCAM1 interactions
    Regulation of insulin secretion
    Adrenaline,noradrenaline inhibits insulin secretion
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    2 PharmGKB Pathways for CACNB2
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNB2) (see all 7):
        MAPK signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Oxytocin signaling pathway
    Hypertrophic cardiomyopathy (HCM)

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNB2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CACNB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CACNB2 (Q082893 ENSP000003200254) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1AO005553, ENSP000003533624I2D: score=1 STRING: ENSP00000353362
    CACNA1CQ139363, ENSP000002663764I2D: score=1 STRING: ENSP00000266376
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    REM1O756283, ENSP000002019794I2D: score=1 STRING: ENSP00000201979
    CACNA1GENSP000003520114STRING: ENSP00000352011
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8494331
    GO:0006816calcium ion transport ----
    GO:0007268synaptic transmission IEA--
    GO:0007411axon guidance TAS--
    GO:0007528neuromuscular junction development TAS8494331

    Find genes that share ontologies with CACNB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CACNB2 (CACB2)

    2 HMDB Compounds for CACNB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    Selected DrugBank Compounds for CACNB2 (see all 13)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NimodipineNimodipino [INN-Spanish] (see all 2)66085-59-4targetinhibitor17705883 11752352 20334460 19844625 20661350
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor10525060 11752352 17475903
    Mibefradil-- 116644-53-2targetinhibitor10372226 10665814 16899990
    Nilvadipine-- 75530-68-6targetinhibitor1283184 7898101 20933604
    Magnesium SulfateBitter salt (see all 6)7487-88-9target--17139284 17016423
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor11752352
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor11752352
    NicardipineNicardipine HCl (see all 3)55985-32-5targetinhibitor11752352
    Nifedipine-- 21829-25-4targetinhibitor11752352
    NisoldipineNisoldipin (see all 3)63675-72-9targetinhibitor11752352

    1 Novoseek inferred chemical compound relationship for CACNB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 37 3 18419826 (1), 7760845 (1), 11604404 (1)



    Find genes that share compounds with CACNB2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CACNB2 gene (9 alternative transcripts): 
    NM_000724.3  NM_001167945.1  NM_201570.2  NM_201571.3  NM_201572.3  NM_201590.2  NM_201593.2  NM_201596.2  
    NM_201597.2  

    Unigene Cluster for CACNB2:

    Calcium channel, voltage-dependent, beta 2 subunit
    Hs.59093  [show with all ESTs]
    Unigene Representative Sequence: NM_000724
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324631 ENST00000352115 ENST00000377328 ENST00000468177 ENST00000467034
    ENST00000282343(uc010qcl.2) ENST00000377331 ENST00000396576(uc001ipr.2 uc009xjz.1 uc001ips.2 uc001ipt.2 uc001ipu.3 uc001ipv.3 uc009xka.2 uc001ipw.2 uc001ipx.2 uc001ipz.2 uc001ipy.2 uc010qco.1 uc001iqa.2)
    ENST00000377319 ENST00000498816 ENST00000377329(uc009xkb.1 uc010qcm.2)
    ENST00000377315(uc010qcn.2)
    miRNA
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    hsa-miR-3678-3p hsa-miR-300 hsa-miR-128 hsa-miR-4305 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidCACNB2 3' UTR sequence
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 9): CACNB2 (NM_001167945)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CACNB2
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat CACNB2

    Additional mRNA sequence: 

    AB208917.1 AF137376.1 AF137377.1 AF285239.2 AF423189.1 AF423190.1 AF423191.1 AF423192.1 
    AF465485.1 AK293837.1 AK293937.1 AK295113.1 AK296471.1 AK299873.1 AK307526.1 AK307800.1 
    AK310943.1 AK311694.1 AY393858.1 AY393859.1 AY393860.1 AY393861.1 AY393862.1 AY393863.1 
    AY675091.1 AY675092.1 BC136409.1 S60415.1 U95019.1 

    17 DOTS entries:

    DT.95261241  DT.100752330  DT.95153372  DT.95342579  DT.121242527  DT.121242541  DT.97784962  DT.95332082 
    DT.92068893  DT.433162  DT.95229156  DT.97839128  DT.121242704  DT.95343623  DT.75116309  DT.91965230 
    DT.95195856 

    2 AceView cDNA sequences:

    AK128769 AA470581 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CACNB2 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                          -           -     -     -     -     -     -     -           -           -                       -                                 
    SP2:                                      -     -     -     -     -     -     -           -           -                       -                                 
    SP3:                                      -     -     -     -     -     -     -           -           -                 -                                       
    SP4:                                                        -     -     -     -           -           -                       -                                 
    SP5:                                                                    -     -           -           -                       -                                 

    ExUns: 20 ^ 21a · 21b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for CACNB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CACNB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCACTGTT
    CACNB2 Expression
    About this image


    CACNB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 7
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    CACNB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.59093

    UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289
    Tissue specificity: Expressed in all tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNB2: 
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CACNB2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacnb21 , 5 calcium channel, voltage-dependent, beta 2 subunit1, 5 90.57(n)1
    94.65(a)1
      2 (10.70 cM)5
    122961  NM_023116.41  NP_075605.11 
     146043065 
    chicken
    (Gallus gallus)
    Aves CACNB21 calcium channel, voltage-dependent, beta 2 subunit 84.42(n)
    92.64(a)
      428420  XM_425981.4  XP_425981.4 
    lizard
    (Anolis carolinensis)
    Reptilia CACNB26
    calcium channel, voltage-dependent, beta 2 subunit...
    89(a)
    1 ↔ 1
    6(17728968-17898933)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cacnb21 calcium channel, voltage-dependent, beta 2 subunit 77.93(n)
    86.2(a)
      100495884  XM_004915424.1  XP_004915481.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cacnb2a1 calcium channel, voltage-dependent, beta 2a 68.31(n)
    75.54(a)
      795492  NM_001083568.1  NP_001077037.1 


    ENSEMBL Gene Tree for CACNB2 (if available)
    TreeFam Gene Tree for CACNB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNB2 gene
    CACNB42  CACNB12  CACNB32  
    5 SIMAP similar genes for CACNB2 using alignment to 3 protein entries:     CACB2_HUMAN (see all proteins):
    CAVB2G    CAVB2F    CACNB3    CACNB4    CACNB1

    Find genes that share paralogs with CACNB2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CACNB2 (see all 9982)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0440414
    Brugada syndrome 4 (BRGDA4)4--see VAR_0440412 S L mis40--------
    VAR_0363504
    A colorectal cancer sample4--see VAR_0363502 A G mis40--------
    rs1219178121,2
    Cpathogenic118737780(+) CTCCTC/TAGCCC 18 S L mis10--------
    rs1471482601,2
    C--18092971(+) TGCTTA/CTCTTT 3 -- us2k10--------
    rs1125057061,2
    C,F--18098578(+) GGCTTG/TTATCA 6 -- int12Minor allele frequency- T:0.50CSA 4
    rs2014180201,2
    --18110194(+) TATAT-/ATATAT 6 -- int10--------
    rs112919091,2
    C,F--18133919(+) GCAGAT/-TTTTT 6 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs113810871,2
    C--18155514(+) GTATC-/TTTTTT 6 -- int1 trp30--------
    rs556522031,2
    C--18159232(+) AAAAA-/AGGTCT 6 -- int11Minor allele frequency- A:0.50NA 2
    rs2011036691,2
    C--18166604(+) TTTTTG/TGCTTT 6 -- int10--------

    HapMap Linkage Disequilibrium report for CACNB2 (18429606 - 18679606 bp, first 250kb of CACNB2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CACNB2 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662374CNV Deletion23128226
    esv2733695CNV Deletion23290073
    esv2677936CNV Deletion23128226
    esv4994CNV Deletion18987735
    esv2733728CNV Deletion23290073
    esv2659811CNV Deletion23128226
    esv2675755CNV Deletion23128226
    esv2733706CNV Deletion23290073
    esv2733717CNV Deletion23290073
    esv2656979CNV Deletion23128226

    Human Gene Mutation Database (HGMD): CACNB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNB2
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600003   
    OMIM disorders: 611876  
    UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289
  • Brugada syndrome 4 (BRGDA4) [MIM:611876]: A heart disease characterized by the association of Brugada
    syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch
    block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that
    the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will
    faint and may die in a few minutes if the heart is not reset. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 5 diseases for CACNB2:    
    About MalaCards
    brugada syndrome 4    lambert-eaton myasthenic syndrome    brugada syndrome 1    brugada syndrome
    timothy syndrome

    3 inferred disease relationships from the University of Copenhagen DISEASES database for CACNB2:
    Lambert-Eaton myasthenic syndrome     Brugada syndrome     Timothy syndrome

    Find genes that share disorders with CACNB2           About GenesLikeMe

    Genetic Association Database (GAD): CACNB2
    Human Genome Epidemiology (HuGE) Navigator: CACNB2 (13 documents)

    Export disorders for CACNB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CACNB2 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with CACNB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. (PubMed id 8494331)1, 2, 3, 9 Rosenfeld M.R....Furneaux H.M. (Ann. Neurol. 1993)
    2. Assignment of human genes for beta 2 and beta 4 subunits of voltage- dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. (PubMed id 9254841)1, 2, 3 Taviaux S.... Lory P. (Hum. Genet. 1997)
    3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1, 4 Wain L.V....van Duijn C.M. (Nat. Genet. 2011)
    4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    5. Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. (PubMed id 20414254)1, 4 Hong K.W....Oh B. (J. Hum. Genet. 2010)
    6. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PubMed id 20479155)1, 4 Takeuchi F....Kato N. (Circulation 2010)
    9. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PubMed id 19197348)1, 4 Lowe J.K....Friedman J.M. (PLoS Genet. 2009)
    10. Genome-wide association study of blood pressure and hypertension. (PubMed id 19430479)1, 4 Levy D....van Duijn C.M. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 783 HGNC: 1402 AceView: CACNB2.1 Ensembl:ENSG00000165995 euGenes: HUgn783
    ECgene: CACNB2 Kegg: 783 H-InvDB: CACNB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CACNB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CACNB2 gene:
    Search GeneIP for patents involving CACNB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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