Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CACNB1 Gene

protein-coding   GIFtS: 62
GCID: GC17M037329

Calcium Channel, Voltage-Dependent, Beta 1 Subunit


(Previous symbol: CACNLB1)
  See CACNB1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Calcium Channel, Voltage-Dependent, Beta 1 Subunit1 2     CCHLB12 5
CACNLB11 2 3 5     Calcium Channel, L Type, Beta 1 Polypeptide2
Calcium Channel Voltage-Dependent Subunit Beta 12 3     Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-1 Subunit2
CAB12 3     Voltage-Dependent L-Type Calcium Channel Subunit Beta-12

External Ids:    HGNC: 14011   Entrez Gene: 7822   Ensembl: ENSG000000671917   OMIM: 1142075   UniProtKB: Q026413   

Export aliases for CACNB1 gene to outside databases

Previous GC identifers: GC17M036833 GC17M039327 GC17M037240 GC17M037704 GC17M034583 GC17M033125


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CACNB1 Gene:
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in
the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1
subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative
splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been
identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for CACNB1 Gene:
CACNB1 (calcium channel, voltage-dependent, beta 1 subunit) is a protein-coding gene. Diseases associated with CACNB1 include malignant hyperthermia susceptibility. GO annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB4.

UniProtKB/Swiss-Prot: CACB1_HUMAN, Q02641
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 CACNB1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNB1 gene promoter:
         c-Fos   RFX1   AP-1   POU2F1   POU2F1a   c-Myb   Nkx2-5   MRF-2   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNB1 promoter sequence
   Search Chromatin IP Primers for CACNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNB1


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

Entrez Gene cytogenetic band: 17q21-q22   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21-q22

CACNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNB1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M037329:  view genomic region     (about GC identifiers)

Start:
37,329,709 bp from pter      End:
37,353,956 bp from pter
Size:
24,248 bases      Orientation:
minus strand

(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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CACB1_HUMAN, Q02641 (See protein sequence)
Recommended Name: Voltage-dependent L-type calcium channel subunit beta-1  
Size: 598 amino acids; 65714 Da
Subunit: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with
JSRP1. Interacts with RYR1 (By similarity)
Sequence caution: Sequence=CAA79825.1; Type=Erroneous initiation;
Secondary accessions: A8K114 O15331 Q02639 Q02640 Q8N3X9 Q9C085 Q9UD79
Alternative splicing: 3 isoforms:  Q02641-1   Q02641-2   Q02641-3   

Explore the universe of human proteins at neXtProt for CACNB1: NX_Q02641

Explore proteomics data for CACNB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CACNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000714.3  NP_954855.1  NP_954856.1  

    ENSEMBL proteins: 
     ENSP00000377840   ENSP00000377847   ENSP00000345461  
    Reactome Protein details: Q02641

    CACNB1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CACNB1
    OriGene Protein Over-expression Lysate for CACNB1
    OriGene MassSpec for CACNB1
    OriGene Custom Protein Services for CACNB1
    GenScript Custom Purified and Recombinant Proteins Services for CACNB1
    Novus Biologicals CACNB1 Proteins
    Novus Biologicals CACNB1 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 CACNB1 

     
    antibodies-online proteins for CACNB1 (7 products) 

     
    antibodies-online peptides for CACNB1

    CACNB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CACNB1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CACNB1
    Novus Biologicals CACNB1 Antibodies
    Abcam antibodies for CACNB1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for CACNB1
    antibodies-online antibodies for CACNB1 (79 products) 

    CACNB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CACNB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CACNB1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CACNB1 
    antibodies-online kits for CACNB1 (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CACN: Calcium channel subunits

    5 InterPro protein domains:
     IPR005443 VDCC_L_b1su
     IPR008145 GK/Ca_channel_bsu
     IPR000584 VDCC_L_bsu
     IPR001452 SH3_domain
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q02641

    ProtoNet protein and cluster: Q02641

    2 Blocks protein domains:
    IPB000584 L-type calcium channel beta subunit signature
    IPB005443 L-type calcium channel beta-1 subunit signature


    UniProtKB/Swiss-Prot: CACB1_HUMAN, Q02641
    Similarity: Belongs to the calcium channel beta subunit family
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with CACNB1           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CACB1_HUMAN, Q02641
    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 CACNB1:
    transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP)
    sensitive,beta 1 regulatory subunit,expressed in skeletal muscle,heart and brain isoforms,with CAG repeat

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity TAS1385409
    GO:0005515protein binding ----
    GO:0008331high voltage-gated calcium channel activity IEA--
         
    Find genes that share ontologies with CACNB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CACNB1:
     Increased HPV18 LCR reporter a 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cacnb1):
     behavior/neurological  limbs/digits/tail  mortality/aging  muscle  skeleton 
     vision/eye 

    Find genes that share phenotypes with CACNB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cacnb1tm1Rgg for CACNB1

       genOway: Develop your customized and physiologically relevant rodent model for CACNB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CACNB1:
    hsa-mir-186-5p (MIRT021151)

    Block miRNA regulation of human, mouse, rat CACNB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CACNB1 (see all 37):
    hsa-miR-4328 hsa-miR-15a hsa-miR-486-3p hsa-miR-449a hsa-miR-519a hsa-miR-424 hsa-miR-296-5p hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCACNB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CACNB1
    Predesigned siRNA for gene silencing in human, mouse, rat CACNB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CACNB1

    Clone
    Products:
         
    OriGene clones in human, mouse for CACNB1 (see all 21)
    OriGene ORF clones in mouse, rat for CACNB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CACNB1 (NM_199248)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CACNB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CACNB1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CACNB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CACNB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CACB1_HUMAN, Q02641: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    endoplasmic reticulum2
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0016529sarcoplasmic reticulum IEA--
    GO:0030315T-tubule IEA--

    Find genes that share ontologies with CACNB1           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CACNB1 About   (see all 28)  
    See pathways by source

    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)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    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 CACNB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNB1 (see all 38)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNB1
        Transcription CREB pathway

    2 BioSystems Pathways for CACNB1
        Calcium Regulation in the Cardiac Cell
    Arrhythmogenic right ventricular cardiomyopathy

    2 Reactome Pathways for CACNB1
        NCAM1 interactions
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    1 PharmGKB Pathway for CACNB1
        Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNB1) (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 CACNB1: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CACNB1

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

    Selected Interacting proteins for CACNB1 (Q026412, 3 ENSP000003778404) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GEMP550402, 3, ENSP000002975964MINT-3388383 I2D: score=1 STRING: ENSP00000297596
    ATN1P542592, 3, ENSP000003490764MINT-2857363 MINT-2857344 I2D: score=3 STRING: ENSP00000349076
    CACNA1AO005553, ENSP000003533624I2D: score=2 STRING: ENSP00000353362
    CACNA1CQ139363, ENSP000002663764I2D: score=1 STRING: ENSP00000266376
    REM1O756283, ENSP000002019794I2D: score=2 STRING: ENSP00000201979
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006612protein targeting to membrane IEA--
    GO:0006810transport TAS1385409
    GO:0006816calcium ion transport ----
    GO:0007411axon guidance TAS--
    GO:0070588calcium ion transmembrane transport ----

    Find genes that share ontologies with CACNB1           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CACNB1 (CACB1)

    2 HMDB Compounds for CACNB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    1 DrugBank Compound for CACNB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor10525060 19634509 9249249 20097194 11426839 10374627



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CACNB1 gene (3 alternative transcripts): 
    NM_000723.4  NM_199247.2  NM_199248.2  

    Unigene Cluster for CACNB1:

    Calcium channel, voltage-dependent, beta 1 subunit
    Hs.635  [show with all ESTs]
    Unigene Representative Sequence: NM_000723
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394303(uc002hrm.2) ENST00000539338(uc002hrl.1 uc010web.1)
    ENST00000394310(uc002hrn.3) ENST00000344140(uc002hro.3 uc002hrp.2)
    ENST00000582544 ENST00000577582 ENST00000536613 ENST00000492737 ENST00000582877
    ENST00000582414 ENST00000577926
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CACNB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CACNB1 (see all 37):
    hsa-miR-4328 hsa-miR-15a hsa-miR-486-3p hsa-miR-449a hsa-miR-519a hsa-miR-424 hsa-miR-296-5p hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCACNB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CACNB1
    Predesigned siRNA for gene silencing in human, mouse, rat CACNB1
    Clone
    Products:
         
    OriGene clones in human, mouse for CACNB1 (see all 21)
    OriGene ORF clones in mouse, rat for CACNB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CACNB1 (NM_199248)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CACNB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CACNB1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CACNB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CACNB1
      QuantiTect SYBR Green Assays in human, mouse, rat CACNB1
      QuantiFast Probe-based Assays in human, mouse, rat CACNB1

    Additional mRNA sequence: 

    AB054985.1 AK289729.1 AK297643.1 AK300666.1 AK312385.1 AY393857.1 BC037311.1 L06111.1 
    L06112.1 M76560.1 M92301.1 M92302.1 M92303.1 

    9 DOTS entries:

    DT.87046948  DT.100752349  DT.100752352  DT.100019937  DT.120923246  DT.100752351  DT.120923258  DT.40105918 
    DT.100639288 

    Selected AceView cDNA sequences (see all 88):

    BM672216 BI255280 CA975944 BP348268 NM_000723 BU733043 BQ722156 BQ927442 
    AK127283 BM805656 NM_199247 BU159164 BQ884141 BI259000 AY393857 AA580171 
    NM_199248 T28094 M76560 L06111 BU528131 BM692540 AI131419 W72250 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CACNB1 (see all 10)    About this scheme

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

    ExUns: 18a · 18b ^ 19a · 19b
    SP1:                        
    SP2:                        
    SP3:        -               
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for CACNB1

    (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)
    About This Section

    TryGeneCards Plus

    CACNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGAGGAAG
    CACNB1 Expression
    About this image


    CACNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Hyoid Arch Muscles
    CACNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.635

    UniProtKB/Swiss-Prot: CACB1_HUMAN, Q02641
    Tissue specificity: Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and
    neuroblastoma cells. Isoform 2 is expressed in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNB1: 
              Neuronal Ion Channels in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CACNB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CACNB1
    QuantiTect SYBR Green Assays in human, mouse, rat CACNB1
    QuantiFast Probe-based Assays in human, mouse, rat CACNB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB1

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CACNB1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacnb11 , 5 calcium channel, voltage-dependent, beta 1 subunit1, 5 91.62(n)1
    96.82(a)1
      11 (61.50 cM)5
    122951  NM_001282977.11  NP_001269906.11 
     980015085 
    chicken
    (Gallus gallus)
    Aves CACNB16
    calcium channel, voltage-dependent, beta 1 subunit...
    79(a)
    1 ↔ 1
    27(4109823-4114573)
    lizard
    (Anolis carolinensis)
    Reptilia CACNB16
    calcium channel, voltage-dependent, beta 1 subunit...
    69(a)
    1 ↔ 1
    6(67321178-67361701)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX719985.12   -- 78.49(n)    BX719985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cacnb16
    calcium channel, voltage-dependent, beta 1 subunit...
    70(a)
    1 ↔ 1
    3(15773660-15847664) ENSDARG00000002167
    worm
    (Caenorhabditis elegans)
    Secernentea ccb-13 calcium channel subunit 60(a)   I(3641606-3646883)   --


    ENSEMBL Gene Tree for CACNB1 (if available)
    TreeFam Gene Tree for CACNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CACNB1 gene
    CACNB42  CACNB32  CACNB22  
    4 SIMAP similar genes for CACNB1 using alignment to 2 protein entries:     CACB1_HUMAN (see all proteins):
    CACNB4    CACNB3    CACNB2    CAVB2F

    Find genes that share paralogs with CACNB1           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CACNB1 (see all 572)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363494
    A colorectal cancer sample4--see VAR_0363492 P L mis40--------
    rs1445084481,2
    --37329344(+) AGATCA/GCGCCA 1 -- ds50010--------
    rs1835325311,2
    --37329552(+) TGGGAC/GTGGCA 1 -- ds50010--------
    rs1851396601,2
    --37329592(+) ACAAGC/TAGTCT 1 -- ds50010--------
    rs1478309971,2
    --37329638(+) GGGGGA/GCATTA 1 -- ds50010--------
    rs1488819501,2
    --37329722(+) GTCATA/GTGTAT 1 -- ut310--------
    rs1899472821,2
    --37329760(+) TCTCAC/TCCACT 1 -- ut310--------
    rs72222441,2
    C,F--37329868(+) AGCTCC/TTGGCT 1 -- ut31 ese31Minor allele frequency- T:0.02WA 118
    rs1825613931,2
    --37329875(+) GGCTTA/GGGCAC 1 -- ut310--------
    rs1154548241,2
    C,F--37329912(+) GATCAT/ACTTTT 1 -- ut311Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for CACNB1 (37329709 - 37353956 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CACNB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908203CNV Loss21882294
    nsv833441CNV Loss17160897
    nsv833440CNV Loss17160897
    dgv3161n71CNV Loss21882294
    nsv517435CNV Loss19592680
    nsv908204CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNB1

    (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

    TryGeneCards Plus
    OMIM gene information: 114207    OMIM disorders: --

    1 disease for CACNB1:    
    About MalaCards
    malignant hyperthermia susceptibility


    Find genes that share disorders with CACNB1           About GenesLikeMe


    Export disorders for CACNB1 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for CACNB1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with CACNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. (PubMed id 8395940)1, 2, 3 Iles D.E.... Wieringa B. (Hum. Mol. Genet. 1993)
    2. Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels. (PubMed id 10624822)1, 2 Hogan K.... Powers P.A. (Neurosci. Lett. 1999)
    3. Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes. (PubMed id 8905728)1, 2 Fukuda K.... Satoh M. (Neurosci. Lett. 1996)
    4. Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping. (PubMed id 8381767)1, 3 Gregg R.G....Hogan K. (Genomics 1993)
    5. Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart. (PubMed id 7916667)1, 2 Collin T.... Schwartz A. (Circ. Res. 1993)
    6. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PubMed id 1309651)1, 2 Williams M.E.... Harpold M.M. (Neuron 1992)
    7. Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene. (PubMed id 1385409)1, 2 Powers P.A.... Gregg R.G. (J. Biol. Chem. 1992)
    8. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    9. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 782 HGNC: 1401 AceView: CACNB1 Ensembl:ENSG00000067191 euGenes: HUgn782
    ECgene: CACNB1 Kegg: 782 H-InvDB: CACNB1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CACNB1 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for CACNB1 gene:
    Search GeneIP for patents involving CACNB1

    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
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of CACNB1
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CACNB1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CACNB1  
     OriGene MassSpec for CACNB1   OriGene clones in human, mouse for CACNB1  
     OriGene qSTAR qPCR primer pairs in human, mouse for CACNB1   OriGene Purified Protein for CACNB1  
     OriGene ORF clones in mouse, rat for CACNB1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CACNB1   OriGene Custom Protein Services for CACNB1  

     
     
     Block miRNA regulation of human, mouse, rat CACNB1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CACNB1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNB1 Predesigned siRNA for gene silencing in human, mouse, rat CACNB1
     QuantiFast Probe-based Assays in human, mouse, rat CACNB1 QuantiTect SYBR Green Assays in human, mouse, rat CACNB1
     PCR Arrays including human, mouse, rat CACNB1 Search Chromatin IP Primers for CACNB1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CACNB1  Search GeneGlobe Interaction Network for CACNB1
     Regulatory tfbs in CACNB1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CACNB1 GenScript cDNA clones with any tag delivered in your preferred vector for CACNB1
     GenScript Custom Assay Services for CACNB1 GenScript Custom overexpressing Cell Line Services for CACNB1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CACNB1 (CACB1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CACNB1 antibodies
     CACNB1 proteins
     CACNB1 lysates
     Antibodies for CACNB1
     See all of Abcam's Antibodies, Kits and Proteins for CACNB1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for CACNB1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB1
     SwitchGear 3'UTR luciferase reporter plasmids for CACNB1
     SwitchGear Promoter luciferase reporter plasmids for CACNB1
     ThermoFisher Antibody for CACNB1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CACNB1
     Browse compounds at ApexBio
     Search Addgene for plasmids for CACNB1
      Search eBioscience for proteins for CACNB1
      Search eBioscience for elisas for CACNB1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for CACNB1
     antibodies-online antibodies for CACNB1 (79 products)
     antibodies-online kits for CACNB1 (10 products)
     antibodies-online peptides for CACNB1
     antibodies-online proteins for CACNB1 (7 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CACNB1 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4