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

CACNB4 Gene

protein-coding   GIFtS: 65
GCID: GC02M152659

calcium channel, voltage-dependent, beta 4 subunit

 Explore 15 diseases affiliated with
CACNB4 via our new
 Human Malady Compendium 
Biological research products
for CACNB4
    

(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 4 Subunit1 2     EIG92 5
EJM41 2     EJM62 5
Calcium Channel Voltage-Dependent Subunit Beta 42 3     EJM2
CAB42 3     Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-4 Subunit2
CACNLB42 3     Voltage-Dependent L-Type Calcium Channel Subunit Beta-42
EA52 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 GC02M152897 GC02M152520 GC02M152402 GC02M144575


(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 CACNB4:
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)

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


(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CACNB4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC02M152659:  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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00305

  • CACNB4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000343563   ENSP00000353425  
    Reactome Protein details: O00305
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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


    CACNB4 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

    CACNB4 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR008144 Guanylate_kin
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR000584 VDCC_L_bsu
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry O00305

    ProtoNet protein and cluster: O00305

    2 Blocks protein families:
    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


    (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: 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

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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:0005245contributes to voltage-gated calcium channel activity IDA16525042
    GO:0005515protein binding IPI16525042
    GO:0008331contributes to high voltage-gated calcium channel activity IDA11880487


    CACNB4 for ontologies           About GeneDecksing


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

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

    CACNB4 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 - 5/27 super-pathways (see all 27About 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 CACNB4
        Transcription CREB pathway

    5/38 Downloadable PowerPoint Slides of QIAGEN 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

    5/7        Reactome Pathways for CACNB4 (see all 7)
        Developmental Biology
    NCAM1 interactions
    Transmission across Chemical Synapses
    NCAM signaling for neurite out-growth
    Neuronal System

    1 PharmGKB Pathway for CACNB4
        Celecoxib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for CACNB4):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNB4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNB4

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

    5/59 Interacting proteins for CACNB4 (O003051, 2, 3 ENSP000003435634) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED31Q9Y3C72, 3MINT-64583 I2D: score=5 
    PTNP212462, 3MINT-64581 I2D: score=5 
    TBL3Q127882, 3MINT-64582 I2D: score=5 
    SYT1P215791, 3, ENSP000002612054EBI-714855,EBI-524909 I2D: score=1 STRING: ENSP00000261205
    CACNA1AO005553, ENSP000003533624I2D: score=1 STRING: ENSP00000353362
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    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--


    CACNB4 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

    CACNB4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CACNB4

    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--

    3 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

    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CACNB4 / CACB4 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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
    11 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 ENST00000339254 ENST00000360283(uc002txy.3 uc021vre.1)


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    Additional cDNA 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:

    BX279713 NM_000726 AF038852 AL700210 BX484858 BC075049 AW134825 U95020 
    BP360802 AY054985 BE856737 BX648679 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™, 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

    CACNB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See CACNB4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNB4

    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
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CACNB4 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 B6IDG1_ANOCA6
    Voltage-gated calcium channel beta 4 subunit trans...
    98(a)
    1 ↔ 1
    GL343296.1(1391145-1607105)
    zebrafish
    (Danio rerio)
    Actinopterygii cacnb4a1 calcium channel, voltage-dependent, beta 4a subunit 75.74(n)
    87.64(a)
      562422  NM_001113519.1  NP_001106991.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-&bgr;3 calcium ion transport voltage-gated calcium
    channel
    65(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ccb-13 calcium channel subunit 63(a)
    (best of 2)
      I(3641606-3646883)   --


    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)
    About This Section
    Paralogs for CACNB4 gene
    CACNB12  CACNB32  CACNB22  
    3 SIMAP similar genes for CACNB4 using alignment to 9 protein entries:     CACB4_HUMAN (see all proteins):
    CACNB1    CACNB3    CACNB2

    CACNB4 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

    10/4572 NCBI SNPs in CACNB4 are shown (see all 4572    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18050311,2
    C,pathogenic152737393(-) CTACTG/TCGGCG 8 C F mis11Minor allele frequency- T:0.00NA 2
    rs18050321,2
    Cother152695752(-) ATAGCC/TGAGAT 8 R * stg11Minor allele frequency- T:0.00NA 2
    rs356932171,2
    C--144692306(+) GTAAC-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
    rs58354071,2
    C,F--144819006(+) TTGGGT/-TTTTT 1 -- int1 trp33Minor allele frequency- -:0.50NA 6
    rs1894571191,2
    --152688918(+) TTACAA/GGTACA 4 -- ds50010--------
    rs1400731991,2
    --152688983(+) ACTTGC/TGAACA 4 -- ds50010--------
    rs1130376441,2
    --152689016(+) TTTTTC/ATATAT 4 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1467809741,2
    --152689100(+) CCTAAC/TACAGT 4 -- ds50010--------
    rs1813244281,2
    --152689120(+) GTGATC/TACTCA 4 -- ds50010--------
    rs1858306091,2
    --152689450(+) GTTTTC/TTTCTT 4 -- ut310--------

    HapMap Linkage Disequilibrium report for CACNB4 (152689285 - 152939285 bp, first 250kb of CACNB4)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CACNB4
         4 CNVs: 98017 90079 90083 8961
         2 Indels: 45878 41388
    Human Gene Mutation Database (HGMD): CACNB4

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    (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.)
    About This Section

    CACNB4 for disorders           About GeneDecksing

    OMIM gene information: 601949   
    OMIM disorders: 607682  
    UniProtKB/Swiss-Prot: CACB4_HUMAN, O00305
  • Defects in CACNB4 are the cause of susceptibility to epilepsy, idiopathic generalized type 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
  • Defects in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:607682].
  • EJM6 is 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
  • Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5) [MIM:613855]. EA5 is 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

    15 diseases for CACNB4:    About MalaCards
    juvenile myoclonic epilepsy    idiopathic generalized epilepsy    generalized epilepsy    episodic ataxia, type 5 (3) 2
    episodic ataxia type 5    episodic ataxia    episodic ataxia type 2    febrile convulsions
    convulsions    ataxia    nystagmus    neurologic diseases
    migraine    obesity    neuronitis

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

    1 Novoseek 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
    Episodic Ataxia Type 2

    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)
    About This Section

    PubMed articles for CACNB4 gene, integrated from 9 sources (see all 48):
    (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. (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. (2009)
    3. 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. (2007)
    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. (2004)
    5. 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. (2002)
    6. 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. (2000)
    7. 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. (1997)
    8. Cacnb4 directly couples electrical activity to gene ex pression, a process defective in juvenile epilepsy. (PubMed id 22892567)1 Tadmouri A....De Waard M. (2012)
    9. The Ca2+ channel beta4c subunit interacts with hetero chromatin protein 1 via a PXVXL binding motif. (PubMed id 21220418)1 Xu X....Horne W.A. (2011)
    10. Haplotype Association Mapping of Acute Lung Injury in Mice Implicates Activin A Receptor, Type 1. (PubMed id 21297076)1 Leikauf G.D....Prows D.R. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 785 HGNC: 1404 AceView: CACNB4 Ensembl:ENSG00000182389 euGenes: HUgn785
    ECgene: CACNB4 Kegg: 785 H-InvDB: CACNB4

    (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 CACNB4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNB4

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