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CACNA1B Gene

protein-coding   GIFtS: 68
GCID: GC09P140772

Calcium Channel, Voltage-Dependent, N Type, Alpha 1B Subunit


(Previous symbol: CACNL1A5)
  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, N Type, Alpha 1B Subunit1 2     Calcium Channel, N Type2
CACNL1A51 2 3 5     Calcium Channel, Voltage-Dependent, Alpha 1B Subunit, N Type2
Brain Calcium Channel III2 3     Calcium Channel, Voltage-Dependent, L Type, Alpha 1B Subunit2
Voltage-Gated Calcium Channel Subunit Alpha Cav2.22 3     Cav2.2 Voltage-Gated Ca2+ Channel2
BIII2 3     Voltage-Dependent N-Type Calcium Channel Subunit Alpha-1B2
CACNN2     Voltage-Gated Calcium Channel Alpha Subunit Cav2.22
Cav2.22     CACH53
Calcium Channel Alpha12.2 Subunit2     Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 53
Calcium Channel, L Type, Alpha-1 Polypeptide2     

External Ids:    HGNC: 13891   Entrez Gene: 7742   Ensembl: ENSG000001484087   OMIM: 6010125   UniProtKB: Q009753   

Export aliases for CACNA1B gene to outside databases

Previous GC identifers: GC09M132202 GC09P132561 GC09P134074 GC09P135990 GC09P138048 GC09P139892 GC09P110240


(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 CACNA1B Gene:
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which
controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta
subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and
omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for CACNA1B Gene:
CACNA1B (calcium channel, voltage-dependent, N type, alpha 1B subunit) is a protein-coding gene. Diseases associated with CACNA1B include pulmonary aspergilloma, and krukenberg carcinoma. GO annotations related to this gene include voltage-gated calcium channel activity and calcium ion binding. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot: CAC1B_HUMAN, Q00975
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are
also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or
neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B
gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group
and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are
however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels
containing alpha-1B subunit may play a role in directed migration of immature neurons

summary for CACNA1B Gene:
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1B (N-type calcium channel) 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_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNA1B gene promoter:
         GATA-3   SREBP-1c   SREBP-1b   CREB   CBF-A   SREBP-1a   deltaCREB   c-Myb   NF-kappaB1   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA1B promoter sequence
   Search Chromatin IP Primers for CACNA1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNA1B


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34

CACNA1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P140772:  view genomic region     (about GC identifiers)

Start:
140,772,241 bp from pter      End:
141,019,076 bp from pter
Size:
246,836 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAC1B_HUMAN, Q00975 (See protein sequence)
Recommended Name: Voltage-dependent N-type calcium channel subunit alpha-1B  
Size: 2339 amino acids; 262496 Da
Subunit: Multisubunit complex consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The
channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this
subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and
alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with RIMS1 and RIMBP2 (By
similarity)
1 PDB 3D structure from and Proteopedia for CACNA1B:
2LCM (3D)    
Secondary accessions: B1AQK5
Alternative splicing: 2 isoforms:  Q00975-1   Q00975-2   

Explore the universe of human proteins at neXtProt for CACNA1B: NX_Q00975

Explore proteomics data for CACNA1B at MOPED

Post-translational modifications: 

  • Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK (By similarity)1
  • Ubiquitination2 at Lys732
  • Glycosylation2 at Asn256, Asn1563, Asn1675
  • Modification sites at PhosphoSitePlus

  • See CACNA1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000709.1  NP_001230741.1  

    ENSEMBL proteins: 
     ENSP00000277551   ENSP00000360423   ENSP00000360414   ENSP00000360408   ENSP00000413042  
     ENSP00000360406   ENSP00000277550   ENSP00000277549   ENSP00000441232   ENSP00000360418  
     ENSP00000360416  
    Reactome Protein details: Q00975

    CACNA1B Human Recombinant Protein Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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
    CACN1: Voltage-gated ion channels / Calcium channels
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav2.2
    Voltage-gated calcium channels

    Selected InterPro protein domains (see all 6):
     IPR002048 EF_hand_dom
     IPR014873 VDCC_a1su_IQ
     IPR005821 Ion_trans_dom
     IPR005447 VDCC_N_a1su
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry Q00975

    ProtoNet protein and cluster: Q00975

    2 Blocks protein domains:
    IPB002077 Calcium channel signature
    IPB005447 N-type voltage-dependent calcium channel alpha-1 subunit signature


    UniProtKB/Swiss-Prot: CAC1B_HUMAN, Q00975
    Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6)
    and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are
    characterized by a series of positively charged amino acids at every third position
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily
    Similarity: Contains 1 EF-hand domain


    CACNA1B 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: CAC1B_HUMAN, Q00975
    Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are
    also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or
    neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B
    gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group
    and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are
    however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels
    containing alpha-1B subunit may play a role in directed migration of immature neurons

         Genatlas biochemistry entry for CACNA1B:
    omega conotoxin sensitive,calcium channel,N type,alpha 1B subunit,exclusively expressed in neuronal tissue

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005245voltage-gated calcium channel activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11438518
    GO:0005524ATP binding IEA--
         
    CACNA1B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CACNA1B:
     Decreased viability  Increased G2M DNA content 

         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cacna1b):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     integument  mortality/aging  nervous system 

    CACNA1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cacna1btm1Ksw for CACNA1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CACNA1B
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CACNA1B

    miRNA
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    miRTarBase miRNAs that target CACNA1B:
    hsa-mir-335-5p (MIRT018028)

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    Selected qRT-PCR Assays for microRNAs that regulate CACNA1B (see all 73):
    hsa-miR-607 hsa-miR-485-3p hsa-miR-3074-3p hsa-miR-759 hsa-miR-3122 hsa-miR-3613-3p hsa-miR-510 hsa-miR-647
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1B


    (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 UniProtKB/Swiss-Prot
    CAC1B_HUMAN, Q00975: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030425dendrite IEA--

    CACNA1B 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 CACNA1B About   (see all 35)  
    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
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    3Circadian entrainment
    GABAergic synapse0.53
    Dopaminergic synapse0.37
    Morphine addiction0.53
    Cholinergic synapse0.37
    Retrograde endocannabinoid signaling0.51
    Serotonergic synapse0.33
    4TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    5Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNA1B (see all 40)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1B
        Transcription CREB pathway

    2 BioSystems Pathways for CACNA1B
        Calcium Regulation in the Cardiac Cell
    Synaptic Vesicle Pathway

    1 Reactome Pathway for CACNA1B
        Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    4 PharmGKB Pathways for CACNA1B
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics
    Sympathetic Nerve Pathway (Neuroeffector Junction)
    Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    Selected Kegg Pathways  (Kegg details for CACNA1B) (see all 12):
        MAPK signaling pathway
    Calcium signaling pathway
    Synaptic vesicle cycle
    Retrograde endocannabinoid signaling
    Cholinergic synapse


    CACNA1B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CACNA1B: 
              Neuronal Ion Channels in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CACNA1B

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

    Selected Interacting proteins for CACNA1B (Q009751, 2, 3 ENSP000002775494) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206289P287021, 3EBI-1055161,EBI-748576 I2D: score=1 
    ENSG00000227322P287021, 3EBI-1055161,EBI-748576 I2D: score=1 
    ENSG00000228333P287021, 3EBI-1055161,EBI-748576 I2D: score=1 
    ENSG00000231321P287021, 3EBI-1055161,EBI-748576 I2D: score=1 
    ENSG00000235712P287021, 3EBI-1055161,EBI-748576 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS1321501
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion IEA--

    CACNA1B 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 compounds at ApexBio 

    Compounds for CACNA1B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    omega-Conotoxin GVIACa2+ channel blocker (N-type)[106375-28-4]
    (+-)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    PregabalinAnticonvulsant. Selectively binds the alpha2delta subunit of voltage-sensitive calcium channels[148553-50-8]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    3 HMDB Compounds for CACNA1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmlodipineAMVAZ (see all 7)88150-42-9--
    CalciumCa (see all 2)7440-70-2--
    Gabapentin1-(Aminomethyl)cyclohexaneacetic acid (see all 9)60142-96-3--

    5 DrugBank Compounds for CACNA1B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor10525060 19634509 9249249 20097194 11426839 10374627
    GabapentinGabapentin GR (see all 6)60142-96-3targetinhibitor18299583 16368827 20588320
    LevetiracetamLevetiracetam [INN] (see all 3)102767-28-2targetinhibitor17461889 11879381
    Agmatine-- 306-60-5targetantagonist12904272
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor19125880

    4 IUPHAR Ligands for CACNA1B (Cav2.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    Pb2+
    Pore BlockerAntagonist5.912435810
    omega-conotoxin MVIIA
    Pore BlockerAntagonist111756491
    omega-conotoxin GVIA
    Channel blockerNone1--
    omega-conotoxin MVIIC
    Channel blockerNone1--

    Selected Novoseek inferred chemical compound relationships for CACNA1B gene (see all 53)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cilnidipine 94 33 16309909 (2), 12932117 (2), 19634509 (2), 14668570 (1) (see all 22)
    ziconotide 93.3 22 16489373 (2), 10834782 (2), 10692631 (1), 17199507 (1) (see all 18)
    calcium 81.7 558 17199507 (6), 12221094 (5), 16831862 (5), 15778267 (5) (see all 99)
    omega conotoxin mviic 70 6 9174087 (1), 8035912 (1), 10433500 (1), 10648826 (1) (see all 5)
    amlodipine 63.1 4 8564381 (1), 14649310 (1), 10653832 (1), 19634509 (1)
    nifedipine 62 6 8564381 (1), 14649310 (1), 10496336 (1), 9259470 (1) (see all 6)
    dihydropyridine 60 5 16309909 (2), 10437156 (1), 18684623 (1), 19650875 (1)
    mibefradil 53.3 1 10653832 (1)
    nicardipine 49.3 3 1378490 (1), 10437156 (1), 7477957 (1)
    norepinephrine 46.1 8 8097399 (1), 9489603 (1), 7853249 (1), 8396731 (1) (see all 6)



    CACNA1B for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CACNA1B gene (2 alternative transcripts): 
    NM_000718.3  NM_001243812.1  

    Unigene Cluster for CACNA1B:

    Calcium channel, voltage-dependent, N type, alpha 1B subunit
    Hs.495522  [show with all ESTs]
    Unigene Representative Sequence: NM_000718
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000277551(uc011mfd.2 uc004cok.1 uc010ncp.1) ENST00000371372
    ENST00000371363 ENST00000371357 ENST00000413253 ENST00000371355 ENST00000277550
    ENST00000277549(uc022bqn.1 uc004cog.3 uc004coi.3) ENST00000545473
    ENST00000371367 ENST00000371365
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CACNA1B (see all 73):
    hsa-miR-607 hsa-miR-485-3p hsa-miR-3074-3p hsa-miR-759 hsa-miR-3122 hsa-miR-3613-3p hsa-miR-510 hsa-miR-647
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    Additional mRNA sequence: 

    AB209467.1 AY429522.1 AY429523.1 BC033060.1 M94172.1 M94173.1 

    5 DOTS entries:

    DT.95255433  DT.110513  DT.108221  DT.91749358  DT.121183869 

    Selected AceView cDNA sequences (see all 41):

    AI458511 AY429523 T12610 BX091082 CK000994 AY429522 BF941918 AW015170 
    AA448208 CK005412 BX419165 BF110379 AA351022 M94172 AA776162 M94173 
    AI912671 BI549597 M85539 BE252230 BG472603 CD513312 NM_000718 BQ233723 

    GeneLoc Exon Structure


    (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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    CACNA1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACACAACT
    CACNA1B Expression
    About this image


    CACNA1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
    CACNA1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495522

    UniProtKB/Swiss-Prot: CAC1B_HUMAN, Q00975
    Tissue specificity: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not
    in skeletal muscle or aorta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CACNA1B: 
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1B

    (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 CACNA1B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1b1 , 5 calcium channel, voltage-dependent, N type, alpha 1B more1, 5 86.88(n)1
    92.96(a)1
      2 (16.58 cM)5
    122871  NM_001042528.21  NP_001035993.11 
     246038875 
    chicken
    (Gallus gallus)
    Aves CACNA1B1 calcium channel, voltage-dependent, N type, alpha 1B more 76.35(n)
    82.04(a)
      374169  NM_204293.1  NP_989624.1 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA1B6
    calcium channel, voltage-dependent, N type, alpha ...
    27(a)
    1 ↔ 1
    AAWZ02038310(496-12035)
    zebrafish
    (Danio rerio)
    Actinopterygii cacna1ba1 calcium channel, voltage-dependent, N type, alpha 1B more 69.06(n)
    71.51(a)
      555941  NM_001114548.1  NP_001108020.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cac1 , 3 courtship behavior voltage-gated
    calcium channel3
    cacophony1
    62(a)3
    62.23(n)1
    64.3(a)1
      321581  NM_001258707.21  NP_001245636.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-21 unc-2 58.81(n)
    60.6(a)
      180570  NM_001129704.1  NP_001123176.1 


    ENSEMBL Gene Tree for CACNA1B (if available)
    TreeFam Gene Tree for CACNA1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNA1B gene
    CACNA1A2  CACNA1E2  NALCN2  
    14 SIMAP similar genes for CACNA1B using alignment to 20 protein entries:     CAC1B_HUMAN (see all proteins):
    CACNA1A    CACNA1E    CACNA1H    CACNA1C    CACNA1D    SCN5A
    SCN3A    CACNA1S    SCN1A    SCN4A    CACNA1G    TPCN1
    SCN9A    SCN10A

    CACNA1B 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 CACNA1B (see all 352)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs576243881,2
    C--140796139(+) TGTGA-/TTTTTTTT 2 -- int10--------
    rs559353981,2
    C--140798771(+) TATAT-/AT/TA 
            
    TTTAC
    2 -- int10--------
    rs341857551,2
    C--140812662(+) GGCTTG/-GGGGG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs673507311,2
    C--140815502(+) GGCTG-/GA    
       G
    /GGA
    ATGAG
    4 -- cds10--------
    rs713878731,2
    C--140815503(+) GCTGAGGA/-TGAGC 2 -- cds11Minor allele frequency- -:0.00NA 2
    rs713878751,2
    C--140820520(+) TTTTTT/-GAGAC 2 -- int11Minor allele frequency- -:0.00NA 2
    rs713878761,2
    C--140821698(+) TCTTC-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs600289401,2
    C--140837502(+) TTTTT-/TGAGTT 2 -- int10--------
    rs1155025751,2
    C--140843773(+) TACGTA/GTGGTG 2 -- int10--------
    rs625896451,2
    C--140843818(+) TTGGTG/TTGTGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for CACNA1B (140772241 - 141019076 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CACNA1B (see all 53):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821456CNV Deletion20802225
    esv2219909CNV Deletion18987734
    esv2667721CNV Deletion23128226
    esv2666889CNV Deletion23128226
    dgv48e194CNV Deletion18987734
    esv1367927CNV Deletion17803354
    esv4238CNV Deletion18987735
    esv2137371CNV Deletion18987734
    esv2673994CNV Deletion23128226
    esv2375692CNV Deletion18987734

    Human Gene Mutation Database (HGMD): CACNA1B
    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 601012    OMIM disorders: --

    Selected diseases for CACNA1B (see all 40):    
    About MalaCards
    pulmonary aspergilloma    krukenberg carcinoma    epidemic pleurodynia    chronic pain
    morvan's fibrillary chorea    autoimmune autonomic ganglionopathy    arsacs    lambert-eaton myasthenic syndrome
    differentiating neuroblastoma    tetanus    chorea    episodic ataxia
    hemiplegic migraine    hypertensive heart disease    hyperprolactinemia    nicotine addiction
    essential hypertension    maturity-onset diabetes of the young    migraine    thymoma

    1 disease from the University of Copenhagen DISEASES database for CACNA1B:
    Epidemic pleurodynia

    CACNA1B for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CACNA1B gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lambert-eaton myasthenic syndrome 47.5 1 8957009 (1)
    essential hypertension 26 1 14649310 (1)
    pheochromocytoma 20.4 1 8939958 (1)
    hyperalgesia 18.8 2 9765342 (1)
    small cell lung cancer 4.71 1 8391990 (1)
    inflammation 2.09 1 9765342 (1)
    tumors 0.188 1 8186692 (1)
    bradycardia 0 1 11533140 (1)
    stroke 0 1 19442208 (1)
    glioma 0 4 9259470 (2), 10437156 (1), 9144648 (1)

    Genetic Association Database (GAD): CACNA1B
    Human Genome Epidemiology (HuGE) Navigator: CACNA1B (5 documents)

    Export disorders for CACNA1B 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 CACNA1B gene, integrated from 10 sources (see all 262):
    (articles sorted by number of sources associating them with CACNA1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel. (PubMed id 1321501)1, 2, 9 Williams M.E.... Harpold M.M. (Science 1992)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Strong synaptic transmission impact by copy number variations in schizophrenia. (PubMed id 20489179)1, 4 Glessner J.T....Hakonarson H. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    4. Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (PubMed id 19065143)1, 4 Moskvina V....O'Donovan M.C. (Mol. Psychiatry 2009)
    5. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PubMed id 16382099)1, 3 Catterall W.A....Striessnig J. (Pharmacol. Rev. 2005)
    6. Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis. (PubMed id 9030575)1, 2 Kim D.S.... Chin H. (J. Biol. Chem. 1997)
    7. Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits. (PubMed id 8825650)1, 3 Diriong S....Taviaux S. (Genomics 1995)
    8. Evaluation of the inhibitory effect of dihydropyridines on N-type calcium channel by virtual three-dimensional pharmacophore modeling. (PubMed id 19634509)7, 9 Ogihara T....Kakinuma C. (Arzneimittelforschung 2009)
    9. Alternative splicing in the C-terminus of CaV2.2 controls expression and gating of N-type calcium channels. (PubMed id 16857708)1, 9 Castiglioni A.J....Lipscombe D. (J. Physiol. (Lond.) 2006)
    10. Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit. (PubMed id 14602720)1, 9 Stotz S.C....Zamponi G.W. (J. Biol. Chem. 2004)

    (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: 774 HGNC: 1389 AceView: CACNA1B Ensembl:ENSG00000148408 euGenes: HUgn774
    ECgene: CACNA1B Kegg: 774 H-InvDB: CACNA1B

    (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 CACNA1B 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 CACNA1B gene:
    Search GeneIP for patents involving CACNA1B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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