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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNB1 Gene

protein-coding   GIFtS: 62
GCID: GC17M037329

calcium channel, voltage-dependent, beta 1 subunit


(Previous symbol: CACNLB1)
 Explore 6 diseases affiliated with
CACNB1 via our new
 Human Malady Compendium 
Biological research products
for CACNB1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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

Entrez Gene summary for CACNB1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CACNB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02641

  • CACNB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000377840   ENSP00000377847   ENSP00000345461  
    Reactome Protein details: Q02641
    Human Recombinant Protein Products: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    CACNB1 for ontologies           About GeneDecksing



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

    CACNB1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR008144 Guanylate_kin
     IPR005443 VDCC_L_b1su
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR000584 VDCC_L_bsu
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q02641

    ProtoNet protein and cluster: Q02641

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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--


    CACNB1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Cacnb1tm1Rgg for CACNB1
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cacnb1):
     behavior/neurological  limbs/digits/tail  mortality/aging  muscle  skeleton 
     vision/eye 

    CACNB1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/28 super-pathways (see all 28About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression1.00
    Caspase Cascade0.24
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.22
    nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    PKC-Theta Pathway1.00
    Fc-EpsilonRI Pathway0.42
    TCR Signaling0.68
    PDGF Pathway0.35
    ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy1.00
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CACNB1
        Transcription CREB pathway

    5/38 Downloadable PowerPoint Slides of QIAGEN 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

    5/7        Reactome Pathways for CACNB1 (see all 7)
        Developmental Biology
    NCAM1 interactions
    Transmission across Chemical Synapses
    NCAM signaling for neurite out-growth
    Neuronal System

    1 PharmGKB Pathway for CACNB1
        Celecoxib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for CACNB1):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNB1

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

    5/53 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 (GO ID links to tree view):    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:0051925regulation of calcium ion transport via voltage-gated calcium channel activity ----


    CACNB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CACNB1

    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

    Search CenterWatch for drugs/clinical trials and news about CACNB1 / CACB1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 

    24/88 AceView cDNA sequences (see all 88):

    BU733043 BQ722156 BP348268 T28094 BI255280 BM672216 CA975944 AK127283 
    NM_199247 BU159164 BQ884141 AY393857 AA580171 BI259000 BM805656 NM_199248 
    NM_000723 BQ927442 L06111 W72250 BI553643 AI762726 AI131419 BV202766 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGGAGGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CACNB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNB1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including CACNB1: 
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    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

    This gene was present in the common ancestor of animals.

    Orthologs for CACNB1 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia CACNB16
    --
    67(a)
    1 ↔ 1
    6(67325753-67352048)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX719985.12   -- 78.49(n)    BX719985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cacnb11 calcium channel, voltage-dependent, beta 1 subunit 76.41(n)
    85.06(a)
      436925  NM_001002652.1  NP_001002652.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-&bgr;3 calcium ion transport voltage-gated calcium
    channel
    62(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ccb-11 , 3 calcium channel subunit3
    Protein CCB-11
    60(a)3
    57.14(n)1
    57.14(a)1
      I(3641606-3646883)3
    1719331  NM_058792.31  NP_491193.21 


    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
    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    CACNB2    CACNB3    CAVB2F

    CACNB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/464 NCBI SNPs in CACNB1 are shown (see all 464    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    rs1495350391,2
    C,--37329816(+) GACAG-/GTAAGTG 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
    F,--37329912(+) GATCAT/ACTTTT 1 -- ut311Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for CACNB1 (37329709 - 37353956 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CACNB1
         2 CNVs: 49852 5006

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    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    CACNB1 for disorders           About GeneDecksing

    OMIM gene information: 114207    OMIM disorders: --

    6 diseases for CACNB1:    About MalaCards
    malignant hyperthermia    temporal lobe epilepsy    malignant hyperthermia susceptibility    ataxia
    neuroblastoma    neuronitis


    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

    PubMed articles for CACNB1 gene, integrated from 9 sources (see all 34):
    (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. (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. (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. (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. (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. (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. (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. (1992)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. MicroRNA-328 contributes to adverse electrical remode ling in atrial fibrillation. (PubMed id 21098446)1 Lu Y....Yang B. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 782 HGNC: 1401 AceView: CACNB1 Ensembl:ENSG00000067191 euGenes: HUgn782
    ECgene: CACNB1 Kegg: 782 H-InvDB: CACNB1

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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