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CACNB3 Gene

protein-coding   GIFtS: 65
GCID: GC12P049212

Calcium Channel, Voltage-Dependent, Beta 3 Subunit


(Previous symbol: CACNLB3)
  See 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 3 Subunit1 2
CACNLB31 2 3
CAB32 3
Voltage-Dependent L-Type Calcium Channel Subunit Beta-32
Calcium Channel Voltage-Dependent Subunit Beta 33

External Ids:    HGNC: 14031   Entrez Gene: 7842   Ensembl: ENSG000001675357   OMIM: 6019585   UniProtKB: P542843   

Export aliases for CACNB3 gene to outside databases

Previous GC identifers: GC12M049140 GC12M049209 GC12P048924 GC12P047498 GC12P046245


(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 CACNB3 Gene:
This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed
of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may
also play a role in the regulation of transcription factors and calcium transport. (provided by RefSeq, Oct 2011)

GeneCards Summary for CACNB3 Gene:
CACNB3 (calcium channel, voltage-dependent, beta 3 subunit) is a protein-coding gene. Diseases associated with CACNB3 include lambert-eaton myasthenic syndrome, and canavan disease. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNB4.

UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284
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 CACNB3 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:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNB3 gene promoter:
         FOXF2   CUTL1   Cdc5   C/EBPalpha   CHOP-10   PPAR-gamma1   deltaCREB   Sox9   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNB3 promoter sequence
   Search Chromatin IP Primers for CACNB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNB3


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13

CACNB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNB3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P049212:  view genomic region     (about GC identifiers)

Start:
49,207,577 bp from pter      End:
49,222,726 bp from pter
Size:
15,150 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284 (See protein sequence)
Recommended Name: Voltage-dependent L-type calcium channel subunit beta-3  
Size: 484 amino acids; 54532 Da
Subunit: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with
CACNA2D4. Interacts with FASLG
Secondary accessions: A8K0Z4 B7Z4Q1 B7Z973 B7ZAK8 F5GZW7 F5H2P6 F8VSG3 Q13913
Alternative splicing: 5 isoforms:  P54284-1   P54284-2   P54284-3   P54284-4   P54284-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for CACNB3: NX_P54284

Explore proteomics data for CACNB3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CACNB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000716.2  NP_001193844.1  NP_001193845.1  NP_001193846.1  

    ENSEMBL proteins: 
     ENSP00000449389   ENSP00000445495   ENSP00000444160   ENSP00000446611   ENSP00000448074  
     ENSP00000448137   ENSP00000446529   ENSP00000301050   ENSP00000449497   ENSP00000448304  
     ENSP00000447462   ENSP00000447261   ENSP00000448076  
    Reactome Protein details: P54284

    CACNB3 Human Recombinant Protein Products:

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    (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
     IPR027417 P-loop_NTPase
     IPR008079 VDCC_L_b3su

    Graphical View of Domain Structure for InterPro Entry P54284

    ProtoNet protein and cluster: P54284

    2 Blocks protein domains:
    IPB000584 L-type calcium channel beta subunit signature
    IPB008079 L-type calcium channel beta-3 subunit signature


    UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284
    Similarity: Belongs to the calcium channel beta subunit family
    Similarity: Contains 1 SH3 domain


    CACNB3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CACB3_HUMAN, P54284
    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 CACNB3:
    calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,beta 3 regulatory
    subunit,55kDa,expressed in brain,smooth muscle,ovary

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245contributes to voltage-gated calcium channel activity IDA11160515
    GO:0005515protein binding ----
    GO:0019901protein kinase binding IEA--
         
    CACNB3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CACNB3:
     Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cacnb3):
     behavior/neurological  cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system 
     muscle  nervous system  vision/eye 

    CACNB3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CACNB3: Cacnb3tm1Acv Cacnb3tm1Hssh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CACNB3
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    miRNA
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    miRTarBase miRNAs that target CACNB3:
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    Block miRNA regulation of human, mouse, rat CACNB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CACNB3 (see all 23):
    hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-185* hsa-miR-219-5p hsa-miR-1285 hsa-miR-449a hsa-miR-508-3p hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidCACNB3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB3


    (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 COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005891voltage-gated calcium channel complex IDA11160515
    GO:0016020membrane IDA16525042
    GO:0016324apical plasma membrane IEA--

    CACNB3 for ontologies           About GeneDecksing


    (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 CACNB3 About   (see all 31)                                                                                              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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNB3 (see all 38)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNB3
        Transcription CREB pathway

    3 BioSystems Pathways for CACNB3
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    Arrhythmogenic right ventricular cardiomyopathy


    4 Reactome Pathways for CACNB3
        NCAM1 interactions
    Regulation of insulin secretion
    Adrenaline,noradrenaline inhibits insulin secretion
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    1 PharmGKB Pathway for CACNB3
        Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNB3) (see all 7):
        MAPK signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Oxytocin signaling pathway
    Hypertrophic cardiomyopathy (HCM)


    CACNB3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNB3: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CACNB3

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

    Selected Interacting proteins for CACNB3 (P542843 ENSP000003010504) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1CQ139363, ENSP000002663764I2D: score=2 STRING: ENSP00000266376
    CACNA1BQ009753, ENSP000002775494I2D: score=1 STRING: ENSP00000277549
    SYT1P215793, ENSP000002612054I2D: score=2 STRING: ENSP00000261205
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    YWHABP319463I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8119293
    GO:0006816calcium ion transport IDA11160515
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--
    GO:0050852T cell receptor signaling pathway IEA--

    CACNB3 for ontologies           About GeneDecksing



    (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 CACNB3 (CACB3)

    2 HMDB Compounds for CACNB3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    4 DrugBank Compounds for CACNB3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NimodipineNimodipino [INN-Spanish] (see all 2)66085-59-4targetinhibitor20335610 17705883 20334460 19844625 20661350
    Mibefradil-- 116644-53-2targetinhibitor10372226 10665814 16899990
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor19125880
    Dronedarone-- 141626-36-0target----



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CACNB3 gene (4 alternative transcripts): 
    NM_000725.3  NM_001206915.1  NM_001206916.1  NM_001206917.1  

    Unigene Cluster for CACNB3:

    Calcium channel, voltage-dependent, beta 3 subunit
    Hs.250712  [show with all ESTs]
    Unigene Representative Sequence: NM_000725
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000547693 ENST00000550391 ENST00000540990 ENST00000549226 ENST00000548860(uc010slx.2 uc010slz.2 uc001rsk.2)
    ENST00000536187 ENST00000548874 ENST00000551716 ENST00000550168 ENST00000552465
    ENST00000550064 ENST00000552022 ENST00000549971 ENST00000547818 ENST00000547392
    ENST00000301050(uc010sly.2 uc001rsl.2 uc021qxm.1) ENST00000548279
    ENST00000550771
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    hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-185* hsa-miR-219-5p hsa-miR-1285 hsa-miR-449a hsa-miR-508-3p hsa-miR-125b
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    Additional mRNA sequence: 

    AK074551.1 AK289709.1 AK297639.1 AK304537.1 AK316323.1 BC041811.1 L27584.1 U07139.1 
    X76555.1 X76556.1 

    18 DOTS entries:

    DT.443125  DT.95278626  DT.95278623  DT.101957331  DT.101983104  DT.100016473  DT.95278622  DT.92048212 
    DT.95278618  DT.100689978  DT.99927764  DT.121208665  DT.100665932  DT.100694314  DT.121208630  DT.121208659 
    DT.121208661  DT.97845358 

    8 AceView cDNA sequences:

    AK122911 CR624564 NM_000725 CR604630 U07139 X76555 BC041811 X76556 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CACNB3 (see all 13)    About this scheme

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

    ExUns: 14 ^ 15 ^ 16a · 16b · 16c
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for CACNB3

    (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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    CACNB3 expression in normal human tissues (normalized intensities)      CACNB3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAGTCAAA
    CACNB3 Expression
    About this image


    CACNB3 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 8 entries
             ganglion/cranial/facial VII   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Inner Nuclear Layer
    CACNB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250712

    UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284
    Tissue specificity: Expressed mostly in brain, smooth muscle and ovary

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNB3: 
              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 animals.

    Orthologs for CACNB3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacnb31 , 5 calcium channel, voltage-dependent, beta 3 subunit1, 5 93.65(n)1
    99.17(a)1
      15 (54.64 cM)5
    122971  NM_001044741.21  NP_001038206.11 
     986322205 
    lizard
    (Anolis carolinensis)
    Reptilia CACNB36
    calcium channel, voltage-dependent, beta 3 subunit...
    72(a)
    1 ↔ 1
    2(94327247-94378104)
    African clawed frog
    (Xenopus laevis)
    Amphibia cacnb3-A2 calcium channel, voltage-dependent, beta 3 subunit 78.53(n)    U33217.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cacnb3b1 calcium channel, voltage-dependent, beta 3b 74.77(n)
    83.33(a)
      559015  XM_682310.4  XP_687402.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-&bgr;3 calcium ion transport voltage-gated
    calcium channel
    61(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ccb-13 calcium channel subunit 60(a)
    (best of 2)
      I(3641606-3646883)   --


    ENSEMBL Gene Tree for CACNB3 (if available)
    TreeFam Gene Tree for CACNB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNB3 gene
    CACNB42  CACNB12  CACNB22  
    4 SIMAP similar genes for CACNB3 using alignment to 10 protein entries:     CACB3_HUMAN (see all proteins):
    CACNB4    CACNB2    CAVB2F    CACNB1

    CACNB3 for paralogs           About GeneDecksing



    (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 CACNB3 (see all 346)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168526901,2
    C,F--49039318(+) CCTATA/GTGGGC 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1501106671,2
    --49039479(+) CCCTGG/TAGAAG 1 -- us2k10--------
    rs1159585221,2
    C,F--49039735(+) GACTCT/CGTCCC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1454746341,2
    --49039754(+) TGGAGC/TGCAGT 1 -- us2k10--------
    rs778211461,2
    C,F--49039755(+) GGAGCG/ACAGTA 1 -- us2k12Minor allele frequency- A:0.10WA EA 238
    rs1844959871,2
    --49039935(+) CTGCCC/TGCCTC 1 -- us2k10--------
    rs1488293091,2
    --49040255(+) GCCGAA/GATCGC 1 -- us2k10--------
    rs24534681,2
    C,F,A--49040264(+) GCCACC/TGCACT 1 -- us2k110Minor allele frequency- T:0.44NA WA CSA EA 374
    rs1160195041,2
    F--49040391(+) GGGAGG/AGAAGG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1452031601,2
    --49040446(+) ACATCC/TCCTCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CACNB3 (49207577 - 49222726 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CACNB3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv698CNV Insertion18451855
    nsv826363CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNB3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601958    OMIM disorders: --

    9 diseases for CACNB3:    About MalaCards
    lambert-eaton myasthenic syndrome    canavan disease    distal hereditary motor neuropathy    hypertrophic cardiomyopathy
    dilated cardiomyopathy    neuropathy    bipolar disorder    neuronitis
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for CACNB3:
    Canavan disease

    CACNB3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CACNB3

    Export disorders for CACNB3 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 CACNB3 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with CACNB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, chromosomal location and functional expression of the human voltage-dependent calcium-channel beta 3 subunit. (PubMed id 8119293)1, 2, 3, 9 Collin T....Nargeot J. (Eur. J. Biochem. 1994)
    2. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1, 4 (Nat. Genet. 2011)
    3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PubMed id 12181424)1, 2 Qin N.... D'Andrea M.R. (Mol. Pharmacol. 2002)
    7. The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. (PubMed id 7557998)1, 2 Yamada Y.... Seino Y. (Genomics 1995)
    8. Role of intraarterial therapy for cerebral vasospasm secondary to aneurysmal subarachnoid hemorrhage. (PubMed id 20334460)7 Weant K.A....Cook A.M. (Pharmacotherapy 2010)
    9. L-type calcium channel blockers, morphine and pain: Newer insights. (PubMed id 20661350)7 Kumar R....Ray S.B. (Indian J Anaesth 2010)
    10. Nimodipine enhancement of alpha2 adrenergic modulation of NMDA receptor via a mechanism independent of Ca2+ channel blocking. (PubMed id 20335610)7 Dong C.J....Hare W.A. (amp 2010)

    (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)
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    Entrez Gene: 784 HGNC: 1403 AceView: CACNB3 Ensembl:ENSG00000167535 euGenes: HUgn784
    ECgene: CACNB3 Kegg: 784 H-InvDB: CACNB3

    (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)
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    NameDescription
    PharmGKB entry for CACNB3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CACNB3 gene:
    Search GeneIP for patents involving CACNB3

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



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