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CACNB4 Gene

protein-coding   GIFtS: 66
GCID: GC02M152689

Calcium Channel, Voltage-Dependent, Beta 4 Subunit

  See CACNB4-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 4 Subunit1 2     EJM62 5
Calcium Channel Voltage-Dependent Subunit Beta 42 3     EJM2
CAB42 3     EJM42
CACNLB42 3     Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-4 Subunit2
EA52 5     Voltage-Dependent L-Type Calcium Channel Subunit Beta-42
EIG92 5     

External Ids:    HGNC: 14041   Entrez Gene: 7852   Ensembl: ENSG000001823897   OMIM: 6019495   UniProtKB: O003053   

Export aliases for CACNB4 gene to outside databases

Previous GC identifers: GC02M150446 GC02M151224 GC02M152659 GC02M152897 GC02M152520 GC02M152402 GC02M144575


(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 CACNB4 Gene:
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins.
Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a
complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these
subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by
this locus plays an important role in calcium channel function 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. Certain mutations in this gene have been associated with idiopathic generalized
epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for CACNB4 Gene:
CACNB4 (calcium channel, voltage-dependent, beta 4 subunit) is a protein-coding gene. Diseases associated with CACNB4 include epilepsy, juvenile myoclonic 6, and cacnb4-related juvenile myoclonic epilepsy. 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 CACNB1.

UniProtKB/Swiss-Prot: CACB4_HUMAN, O00305
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 CACNB4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNB4 gene promoter:
         c-Fos   AP-1   Tal-1beta   YY1   POU2F1   POU2F1b   POU2F1a   c-Jun   MRF-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNB4 promoter sequence
   Search Chromatin IP Primers for CACNB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNB4


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

Entrez Gene cytogenetic band: 2q22-q23   Ensembl cytogenetic band:  2q23.3   HGNC cytogenetic band: 2q22-q23

CACNB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNB4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M152689:  view genomic region     (about GC identifiers)

Start:
152,689,285 bp from pter      End:
152,955,593 bp from pter
Size:
266,309 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CACB4_HUMAN, O00305 (See protein sequence)
Recommended Name: Voltage-dependent L-type calcium channel subunit beta-4  
Size: 520 amino acids; 58169 Da
Subunit: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with
FASLG
2 PDB 3D structures from and Proteopedia for CACNB4:
1VYV (3D)        2D46 (3D)    
Secondary accessions: A7BJ74 A8K1Y4 B4DG40 O60515 Q6B000 Q96L40
Alternative splicing: 4 isoforms:  O00305-1   O00305-2   O00305-3   O00305-4   (Unable to interact with the alpha-1 subunit)

Explore the universe of human proteins at neXtProt for CACNB4: NX_O00305

Explore proteomics data for CACNB4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CACNB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000717.2  NP_001005746.1  NP_001005747.1  NP_001139270.1  

    ENSEMBL proteins: 
     ENSP00000438949   ENSP00000390161   ENSP00000443893   ENSP00000380490   ENSP00000410978  
     ENSP00000201943   ENSP00000399242   ENSP00000353425  
    Reactome Protein details: O00305

    CACNB4 Human Recombinant Protein Products:

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    Novus Biologicals CACNB4 Proteins
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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for CACNB4 


    (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

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

    Graphical View of Domain Structure for InterPro Entry O00305

    ProtoNet protein and cluster: O00305

    2 Blocks protein domains:
    IPB000584 L-type calcium channel beta subunit signature
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: CACB4_HUMAN, O00305
    Similarity: Belongs to the calcium channel beta subunit family
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with CACNB4           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CACB4_HUMAN, O00305
    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 CACNB4:
    calcium voltage-gated channel (VDCC) beta 4 regulatory subunit,55kDa,expressed in
    brain,cerebellum,kidney,testis,retina,lymphoblasts and circulating lymphocytes,ortholog of the mouse epilepsy
    gene lethargic

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245contributes to voltage-gated calcium channel activity IDA16525042
    GO:0005515protein binding IPI16525042
    GO:0008331contributes to high voltage-gated calcium channel activity IDA11880487
    GO:0019901protein kinase binding IEA--
         
    Find genes that share ontologies with CACNB4           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for CACNB4:
     Decreased TP53 protein express  Increased S DNA content  Increased number of cells in m  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cacnb4):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  immune system  mortality/aging  muscle  nervous system 
     reproductive system  vision/eye 

    Find genes that share phenotypes with CACNB4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CACNB4
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    hsa-mir-26b-5p (MIRT030091)

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    Selected qRT-PCR Assays for microRNAs that regulate CACNB4 (see all 51):
    hsa-miR-21* hsa-miR-3130-5p hsa-miR-582-3p hsa-miR-579 hsa-miR-4307 hsa-miR-218-1* hsa-miR-218 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidCACNB4 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    (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
    nucleus3
    chloroplast2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA16525042
    GO:0005891voltage-gated calcium channel complex IDA16525042
    GO:0009898cytoplasmic side of plasma membrane TAS16385006
    GO:0045202synapse IDA16525042

    Find genes that share ontologies with CACNB4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNB4 About   (see all 27)  
    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 CACNB4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNB4 (see all 38)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNB4
        Transcription CREB pathway

    1 BioSystems Pathway for CACNB4
        Arrhythmogenic right ventricular cardiomyopathy

    2 Reactome Pathways for CACNB4
        NCAM1 interactions
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    1 PharmGKB Pathway for CACNB4
        Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNB4) (see all 7):
        MAPK signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Oxytocin signaling pathway
    Hypertrophic cardiomyopathy (HCM)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CACNB4
    Interactions:

        Search GeneGlobe Interaction Network for CACNB4

    Selected Interacting proteins for CACNB4 (O003051, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED31Q9Y3C72, 3MINT-64583 I2D: score=5 
    PTNP212462, 3MINT-64581 I2D: score=5 
    TBL3Q127882, 3MINT-64582 I2D: score=5 
    SYT1P215791, 3EBI-714855,EBI-524909 I2D: score=1 
    ACTA1P681333I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9628818
    GO:0006816calcium ion transport ----
    GO:0006874cellular calcium ion homeostasis IEA--
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with CACNB4           About GenesLikeMe



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

    Browse Tocris compounds for CACNB4 (CACB4)

    2 HMDB Compounds for CACNB4    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 CACNB4    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----

    1 Novoseek inferred chemical compound relationship for CACNB4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 43.5 8 11988102 (1), 19298753 (1), 9562526 (1), 10931840 (1) (see all 7)



    Find genes that share compounds with CACNB4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CACNB4 gene (4 alternative transcripts): 
    NM_000726.3  NM_001005746.2  NM_001005747.2  NM_001145798.1  

    Unigene Cluster for CACNB4:

    Calcium channel, voltage-dependent, beta 4 subunit
    Hs.120725  [show with all ESTs]
    Unigene Representative Sequence: NM_001005747
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539935(uc002txz.3 uc002tya.3 uc010fnz.3) ENST00000439467
    ENST00000534999 ENST00000397327 ENST00000427385 ENST00000201943 ENST00000470066(uc002tyb.2)
    ENST00000434468 ENST00000475848 ENST00000360283(uc002txy.3 uc021vre.1)

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    hsa-miR-21* hsa-miR-3130-5p hsa-miR-582-3p hsa-miR-579 hsa-miR-4307 hsa-miR-218-1* hsa-miR-218 hsa-miR-124
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    Additional mRNA sequence: 

    AB302276.1 AF038852.1 AF075047.1 AK290049.1 AK291378.1 AK294398.1 AK316045.1 AY054985.1 
    BC075049.2 HQ214056.1 U95020.1 

    6 DOTS entries:

    DT.407311  DT.205304  DT.75164259  DT.120946835  DT.120946845  DT.91651650 

    14 AceView cDNA sequences:

    AL700210 U95020 AW134825 BC075049 BX484858 AF038852 BX279713 NM_000726 
    BP360802 BX648679 BE856737 AY054985 R41472 R15034 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CACNB4    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
    SP1:                    -     -                           
    SP2:                    -                                 
    SP3:                          -                           


    ECgene alternative splicing isoforms for CACNB4

    (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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    CACNB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CACNB4 Expression
    About this image


    CACNB4 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)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
    CACNB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120725

    UniProtKB/Swiss-Prot: CACB4_HUMAN, O00305
    Tissue specificity: Expressed predominantly in the cerebellum and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB4

    (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 CACNB4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacnb41 , 5 calcium channel, voltage-dependent, beta 4 subunit1, 5 90.09(n)1
    98.65(a)1
      2 (29.98 cM)5
    122981  NM_001037099.21  NP_001032176.11 
     524283255 
    chicken
    (Gallus gallus)
    Aves CACNB41 calcium channel, voltage-dependent, beta 4 subunit 85.28(n)
    99.22(a)
      374259  NM_001001733.1  NP_001001733.1 
    lizard
    (Anolis carolinensis)
    Reptilia CACNB46
    Uncharacterized protein
    97(a)
    1 ↔ 1
    GL343296.1(1390359-1607105)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cacnb41 calcium channel, voltage-dependent, beta 4 subunit 81.67(n)
    95.12(a)
      100216182  NM_001142151.1  NP_001135623.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cacnb4a1 calcium channel, voltage-dependent, beta 4a subunit 74.58(n)
    86.29(a)
      562422  NM_001113519.2  NP_001106991.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-&bgr;3
    Ca-beta1
    calcium ion transport voltage-gated
    calcium channel3
    Ca2+-channel-protein-beta-subunit1
    65(a)3
    62.18(n)1
    69.47(a)1
      345571  NM_001273446.11  NP_001260375.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ccb-11 , 3 calcium channel subunit3
    ccb-11
    63(a)
    (best of 2)3
    63.2(n)1
    69.04(a)1
      I(3641606-3646883)3
    1719331  NM_058792.41  NP_491193.21 


    ENSEMBL Gene Tree for CACNB4 (if available)
    TreeFam Gene Tree for CACNB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNB4 gene
    CACNB12  CACNB32  CACNB22  
    3 SIMAP similar genes for CACNB4 using alignment to 8 protein entries:     CACB4_HUMAN (see all proteins):
    CACNB1    CACNB3    CACNB2

    Find genes that share paralogs with CACNB4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CACNB4 (see all 5318)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18050311,2,,4
    CEpisodic ataxia 5 (EA5)4 pathogenic1152138526(-) CTACTG/TCGGCG 8 C F mis11Minor allele frequency- T:0.00NA 2
    rs18050321,2
    Cother1152096655(-) ATAGCC/TGAGAT 8 R * stg11Minor allele frequency- T:0.00NA 2
    rs1894571191,2
    --152089821(+) TTACAA/GGTACA 4 -- ds50010--------
    rs1400731991,2
    --152089886(+) ACTTGC/TGAACA 4 -- ds50010--------
    rs1130376441,2
    F--152089919(+) TTTTTC/ATATAT 4 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1467809741,2
    C--152090003(+) CCTAAC/TACAGT 4 -- ds50010--------
    rs1813244281,2
    --152090023(+) GTGATC/TACTCA 4 -- ds50010--------
    rs1858306091,2
    --152090353(+) GTTTTC/TTTCTT 4 -- ut310--------
    rs749443461,2
    C,F--152090396(+) TGCAGC/AACTGT 4 -- ut311Minor allele frequency- A:0.03WA 118
    rs1906278391,2
    --152090570(+) AGATAC/TAGCAA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for CACNB4 (152689285 - 152939285 bp, first 250kb of CACNB4)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CACNB4 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720964CNV Deletion23290073
    esv2661033CNV Deletion23128226
    esv3709CNV Deletion18987735
    esv2720961CNV Deletion23290073
    esv2649483CNV Deletion19546169
    esv1010582CNV Deletion20482838
    esv2076247CNV Deletion18987734
    esv992466CNV Deletion20482838
    esv2678545CNV Deletion23128226
    esv2720963CNV Deletion23290073

    Human Gene Mutation Database (HGMD): CACNB4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNB4
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNB4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601949   
    OMIM disorders: 607682  613855  
    UniProtKB/Swiss-Prot: CACB4_HUMAN, O00305
  • Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized
    seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise
    diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry
  • Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients
    have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which
    usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that
    last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild
    dysarthria and truncal ataxia. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 9 diseases for CACNB4:    
    About MalaCards
    epilepsy, juvenile myoclonic 6    cacnb4-related juvenile myoclonic epilepsy    episodic ataxia type 5    epilepsy, idiopathic generalized 9
    episodic ataxia type 2    episodic ataxia    idiopathic generalized epilepsy    juvenile myoclonic epilepsy
    epilepsy, juvenile myoclonic 8

    1 disease from the University of Copenhagen DISEASES database for CACNB4:
    Episodic ataxia

    Find genes that share disorders with CACNB4           About GenesLikeMe

    1 Novoseek inferred disease relationship for CACNB4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 37.9 2 11305685 (1), 9628818 (1)

    GeneTests: CACNB4
    GeneReviews: CACNB4
    Genetic Association Database (GAD): CACNB4
    Human Genome Epidemiology (HuGE) Navigator: CACNB4 (3 documents)

    Export disorders for CACNB4 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 CACNB4 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with CACNB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. (PubMed id 9628818)1, 2, 3, 9 Escayg A.... Meisler M.H. (Genomics 1998)
    2. 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)
    3. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. (PubMed id 18755274)1, 4 Ohmori I....Matsui H. (Neurobiol. Dis. 2008)
    4. The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit. (PubMed id 17618603)1, 2 Kobayashi T.... Tohse N. (Biochem. Biophys. Res. Commun. 2007)
    5. 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)
    6. Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating. (PubMed id 11880487)1, 2 Helton T.D. and Horne W.A. (J. Neurosci. 2002)
    7. Coding and noncoding variation of the human calcium-channel beta4- subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. (PubMed id 10762541)1, 2 Escayg A.... Meisler M.H. (Am. J. Hum. Genet. 2000)
    8. Assignment of human genes for beta 2 and beta 4 subunits of voltage- dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. (PubMed id 9254841)1, 2 Taviaux S.... Lory P. (Hum. Genet. 1997)
    9. The quest for juvenile myoclonic epilepsy genes. (PubMed id 23756480)1 Delgado-Escueta A.V....DurA^n R.M. (amp 2013)
    10. A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. (PubMed id 24025145)1 Chung S....Nakamura Y. (Breast Cancer Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 785 HGNC: 1404 AceView: CACNB4 Ensembl:ENSG00000182389 euGenes: HUgn785
    ECgene: CACNB4 Kegg: 785 H-InvDB: CACNB4

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for CACNB4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CACNB4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CACNB4 gene:
    Search GeneIP for patents involving CACNB4

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



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