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

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

UniProtKB/Swiss-Prot: CACB1_HUMAN, Q02641
Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium
channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation,
modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting

Gene Wiki entry for CACNB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CACNB1 at MOPED 

Post-translational modifications:

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

  • CACNB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACNB1 Protein Expression
    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 for CACNB1: 
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    Novus Biologicals CACNB1 Proteins
    Novus Biologicals CACNB1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CACN: Calcium channel subunits

    5/6 InterPro protein domains (see all 6):
     IPR008144 Guanylate_kin
     IPR005443 VDCC_L_b1su
     IPR027417 P-loop_NTPase
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR000584 VDCC_L_bsu

    Graphical View of Domain Structure for InterPro Entry Q02641

    ProtoNet protein and cluster: Q02641

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


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


    CACNB1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CACB1_HUMAN, Q02641
    Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium
    channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation,
    modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting

         Genatlas biochemistry entry for CACNB1:
    transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP)
    sensitive,beta 1 regulatory subunit,expressed in skeletal muscle,heart and brain isoforms,with CAG repeat

         Gene Ontology (GO): 3 molecular function terms (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


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

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

    CACNB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cacnb1tm1Rgg for CACNB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CACNB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CACNB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CACNB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CACNB1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCACNB1 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CACNB1 About   (see all 27)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.53
    2PKC-Theta Pathway
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    3DREAM 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
    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

    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:0070588calcium ion transmembrane transport ----

    CACNB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CACNB1 (CACB1)

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

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

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

    (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,
    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, Sirion Biotech, 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 mRNA sequence: 

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

    9 DOTS entries:

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

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

    NM_199248 BU733043 BM805656 BQ884141 BQ927442 NM_000723 BQ722156 BP348268 
    T28094 BM672216 BI255280 CA975944 AK127283 NM_199247 BU159164 BI259000 
    AY393857 AA580171 BU528131 BI553643 BV202765 AA195873 BX501505 L06112 

    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)      CACNB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGAGGAAG
    CACNB1 Expression
    About this image


    CACNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Myoblasts Hyoid Arch Muscles
             deltoid muscle   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

     -- (Endocrine System)
             Pituitary gland   

    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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    (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 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacnb11 , 5 calcium channel, voltage-dependent, beta 1 subunit1, 5 92.24(n)1
    98.16(a)1
      11 (61.50 cM)5
    122951  NM_145121.21  NP_660099.21 
     980015085 
    chicken
    (Gallus gallus)
    Aves CACNB16
    calcium channel, voltage-dependent, beta 1 subunit...
    78(a)
    1 ↔ 1
    27(4109823-4114573)
    lizard
    (Anolis carolinensis)
    Reptilia CACNB16
    calcium channel, voltage-dependent, beta 1 subunit...
    68(a)
    1 ↔ 1
    6(67321178-67361701)
    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    CACNB3    CACNB2    CAVB2F

    CACNB1 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) 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

    10/572 SNPs in CACNB1 are shown (see all 572)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363494
    A colorectal cancer sample4--see VAR_0363492 P L mis40--------
    rs1445084481,2
    --37329344(+) AGATCA/GCGCCA 1 -- ds50010--------
    rs1835325311,2
    --37329552(+) TGGGAC/GTGGCA 1 -- ds50010--------
    rs1851396601,2
    --37329592(+) ACAAGC/TAGTCT 1 -- ds50010--------
    rs1478309971,2
    --37329638(+) GGGGGA/GCATTA 1 -- ds50010--------
    rs1488819501,2
    --37329722(+) GTCATA/GTGTAT 1 -- ut310--------
    rs1899472821,2
    --37329760(+) TCTCAC/TCCACT 1 -- ut310--------
    rs72222441,2
    C,F--37329868(+) AGCTCC/TTGGCT 1 -- ut31 ese31Minor allele frequency- T:0.02WA 118
    rs1825613931,2
    --37329875(+) GGCTTA/GGGCAC 1 -- ut310--------
    rs1154548241,2
    C,F--37329912(+) GATCAT/ACTTTT 1 -- ut311Minor allele frequency- A:0.02WA 118

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

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

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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.)
    About This Section
    OMIM gene information: 114207    OMIM disorders: --

    7 diseases for CACNB1:    About MalaCards
    malignant hyperthermia    malignant hyperthermia susceptibility    temporal lobe epilepsy    hypertrophic cardiomyopathy
    dilated cardiomyopathy    neuroblastoma    neuronitis


    CACNB1 for disorders           About GeneDecksing


    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 35):
    (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. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    9. 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)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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