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CACNA1E Gene

protein-coding   GIFtS: 64
GCID: GC01P181382

Calcium Channel, Voltage-Dependent, R Type, Alpha 1E Subunit


(Previous symbol: CACNL1A6)
  See CACNA1E-related disease
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, R Type, Alpha 1E Subunit1 2     Calcium Channel, R Type, Alpha-1 Polypeptide2
CACNL1A61 2 3 5     Calcium Channel, Voltage-Dependent, Alpha 1E Subunit2
Brain Calcium Channel II2 3     Voltage-Dependent Calcium Channel Alpha 1E Subunit2
Voltage-Gated Calcium Channel Subunit Alpha Cav2.32 3     Voltage-Dependent R-Type Calcium Channel Subunit Alpha-1E2
BII2 3     Voltage-Gated Calcium Channel Alpha 1E Subunit2
CACH62 3     Voltage-Gated Calcium Channel Alpha Subunit Cav2.32
Cav2.32     Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 63
Calcium Channel, L Type, Alpha-1 Polypeptide2     

External Ids:    HGNC: 13921   Entrez Gene: 7772   Ensembl: ENSG000001982167   OMIM: 6010135   UniProtKB: Q158783   

Export aliases for CACNA1E gene to outside databases

Previous GC identifers: GC01P178976 GC01P176881 GC01P177972 GC01P178692 GC01P178184 GC01P179648 GC01P179719 GC01P152684


(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 CACNA1E Gene:
Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta
subunits in a 1:1:1:1 ratio. These channels 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. This gene encodes the alpha-1E subunit of
the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the
modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript
variants encoding different isoforms have been described for this gene. (provided by RefSeq, Apr 2011)

GeneCards Summary for CACNA1E Gene:
CACNA1E (calcium channel, voltage-dependent, R type, alpha 1E subunit) is a protein-coding gene. Diseases associated with CACNA1E include migraine. 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: CAC1E_HUMAN, Q15878
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-1E
gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group
and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to
dihydropyridines (DHP), omega-conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium
channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is
important for information processing

summary for CACNA1E 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 CACNA1E (R-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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNA1E gene promoter:
         p53   Sp1   NRSF form 1   NRSF form 2   C/EBPalpha   POU2F1   FOXC1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNA1E promoter sequence
   Search Chromatin IP Primers for CACNA1E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNA1E


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

Entrez Gene cytogenetic band: 1q25.3   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25.3

CACNA1E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1E gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P181382:  view genomic region     (about GC identifiers)

Start:
181,382,238 bp from pter      End:
181,777,219 bp from pter
Size:
394,982 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CAC1E_HUMAN, Q15878 (See protein sequence)
Recommended Name: Voltage-dependent R-type calcium channel subunit alpha-1E  
Size: 2313 amino acids; 261731 Da
Subunit: Interacts with EFHC1. Voltage-dependent calcium channels are multisubunit complexes, 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
1 PDB 3D structure from and Proteopedia for CACNA1E:
3BXL (3D)    
Secondary accessions: B1AM12 B1AM13 B1AM14 Q14580 Q14581
Alternative splicing: 3 isoforms:  Q15878-1   Q15878-2   Q15878-3   

Explore the universe of human proteins at neXtProt for CACNA1E: NX_Q15878

Explore proteomics data for CACNA1E at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn254, Asn1566, Asn1571
  • Modification sites at PhosphoSitePlus

  • See CACNA1E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000712.2  NP_001192222.1  NP_001192223.1  

    ENSEMBL proteins: 
     ENSP00000432038   ENSP00000356542   ENSP00000434814   ENSP00000353222   ENSP00000356545  
     ENSP00000350183   ENSP00000351101   ENSP00000356539  
    Reactome Protein details: Q15878

    CACNA1E Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CACNA1E 

     
    antibodies-online proteins for CACNA1E (2 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CACN: Calcium channel subunits
    CACN1: Voltage-gated ion channels / Calcium channels
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav2.3
    Voltage-gated calcium channels

    Selected InterPro protein domains (see all 6):
     IPR002048 EF_hand_dom
     IPR014873 VDCC_a1su_IQ
     IPR005821 Ion_trans_dom
     IPR005449 VDCC_R_a1su
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry Q15878

    ProtoNet protein and cluster: Q15878

    2 Blocks protein domains:
    IPB002077 Calcium channel signature
    IPB005449 R-type voltage-dependent calcium channel alpha-1 subunit signature


    UniProtKB/Swiss-Prot: CAC1E_HUMAN, Q15878
    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. CACNA1E subfamily
    Similarity: Contains 1 EF-hand domain


    Find genes that share domains with CACNA1E           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAC1E_HUMAN, Q15878
    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-1E
    gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group
    and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to
    dihydropyridines (DHP), omega-conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium
    channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is
    important for information processing

         Genatlas biochemistry entry for CACNA1E:
    calcium voltage-gated channel (VDCC),R type,alpha 1E subunit,involved in the modulation of calcium mediated
    hormone secretion,isoform 6,abundantly expressed in neuronal tissue,and one form CACNEec specific for islets of
    Langerhans and kidney

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005245voltage-gated calcium channel activity IDA8071363
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with CACNA1E           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Cacna1e):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  nervous system 
     normal 

    Find genes that share phenotypes with CACNA1E           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CACNA1E: Cacna1etm1.1Beck Cacna1etm1Rjml Cacna1etm1.1Tsch

       genOway: Develop your customized and physiologically relevant rodent model for CACNA1E

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    Selected qRT-PCR Assays for microRNAs that regulate CACNA1E (see all 116):
    hsa-miR-411* hsa-miR-100* hsa-miR-520f hsa-miR-3194-5p hsa-miR-1321 hsa-miR-15a hsa-miR-200a hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidCACNA1E 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAC1E_HUMAN, Q15878: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    cytosol1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with CACNA1E           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNA1E About   (see all 29)  
    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
    2TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    5CREB Pathway
    CREB Pathway0.68
    Intracellular Calcium Signaling0.50
    IP3 Pathway0.68


    Find genes that share SuperPaths with CACNA1E           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNA1E (see all 38)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1E
        Transcription CREB pathway

    1 BioSystems Pathway for CACNA1E
        Calcium Regulation in the Cardiac Cell

    2 Reactome Pathways for CACNA1E
        Regulation of insulin secretion
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    2 PharmGKB Pathways for CACNA1E
        Celecoxib Pathway, Pharmacodynamics
    Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    3 Kegg Pathways  (Kegg details for CACNA1E):
        MAPK signaling pathway
    Calcium signaling pathway
    Type II diabetes mellitus

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CACNA1E
    Interactions:

        GeneGlobe Interaction Network for CACNA1E

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

    Selected Interacting proteins for CACNA1E (Q158783 ENSP000003565454) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001662behavioral fear response IEA--
    GO:0002027regulation of heart rate IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006810transport TAS8071363
    GO:0006811ion transport ----

    Find genes that share ontologies with CACNA1E           About GenesLikeMe



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

    Compounds for CACNA1E 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]

    1 HMDB Compound for CACNA1E    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 IUPHAR Ligands for CACNA1E (Cav2.3)    About this table
    LigandTypeActionAffinityPubmed IDs
    SNX482
    Gating inhibitorAntagonist7.5 - 89799496
    Pb2+
    Pore BlockerAntagonist712435810
    Cd2+
    Pore BlockerAntagonist6.18071363
    Ni2+
    Gating inhibitorAntagonist4.68071363

    1 Novoseek inferred chemical compound relationship for CACNA1E gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 54.1 20 12645522 (3), 9065972 (2), 9656471 (2), 18456997 (1) (see all 14)



    Find genes that share compounds with CACNA1E           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CACNA1E gene (3 alternative transcripts): 
    NM_000721.3  NM_001205293.1  NM_001205294.1  

    Unigene Cluster for CACNA1E:

    Calcium channel, voltage-dependent, R type, alpha 1E subunit
    Hs.437444  [show with all ESTs]
    Unigene Representative Sequence: NM_001205293
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524607 ENST00000533229(uc009wxr.3) ENST00000367570 ENST00000526775(uc009wxt.3 uc001gow.3 uc009wxs.3)
    ENST00000360108(uc001gox.1) ENST00000367573 ENST00000357570 ENST00000358338
    ENST00000367567
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    Additional mRNA sequence: 

    AB209499.1 AK096563.1 AK309070.1 BC037800.1 L27745.1 L29384.1 L29385.1 

    4 DOTS entries:

    DT.100745271  DT.91663349  DT.91927120  DT.75100094 

    Selected AceView cDNA sequences (see all 40):

    BF732181 AF387615 BE222969 BF513890 CD609474 F10569 Z43665 BI914369 
    AI564014 BM927219 AA704377 AA683288 NM_000721 AK096563 Z39724 R66414 
    L27745 AA349993 L29384 AA349992 AL134292 BQ067912 F12971 L29385 

    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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    CACNA1E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTAAAGTG
    CACNA1E Expression
    About this image


    CACNA1E expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     NULL (Uncategorized)
             Endoderm progenitor-like cells
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns
     
     Brain (Nervous System)
             Cerebral Cortex
    CACNA1E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA1E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437444

    UniProtKB/Swiss-Prot: CAC1E_HUMAN, Q15878
    Tissue specificity: Expressed in neuronal tissues and in kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CACNA1E gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1e1 , 5 calcium channel, voltage-dependent, R type, alpha 1E subunit less1, 5 90.44(n)1
    96.48(a)1
      1 (66.14 cM)5
    122901  NM_009782.31  NP_033912.21 
     1543925195 
    chicken
    (Gallus gallus)
    Aves CACNA1E1 calcium channel, voltage-dependent, R type, alpha 1E subunit less 81.3(n)
    87.59(a)
      424412  XM_422255.4  XP_422255.4 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA1E6
    calcium channel, voltage-dependent, R type, alpha ...
    80(a)
    1 ↔ 1
    4(69088805-69667612)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cacna1e1 calcium channel, voltage-dependent, R type, alpha 1E subunit less 73.34(n)
    79.85(a)
      100488514  XM_002937363.2  XP_002937409.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5642741 novel protein similar to vertebrate calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E) less 70.95(n)
    75.96(a)
      564274  XM_001920742.3  XP_001920777.3 


    ENSEMBL Gene Tree for CACNA1E (if available)
    TreeFam Gene Tree for CACNA1E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNA1E gene
    CACNA1A2  CACNA1B2  NALCN2  
    13 SIMAP similar genes for CACNA1E using alignment to 10 protein entries:     CAC1E_HUMAN (see all proteins):
    CACNA1A    CACNA1B    SCN3A    SCN5A    CACNA1G    SCN4A
    SCN1A    TPCN1    CACNA1C    CACNA1S    CACNA1D    CACNA1F
    SCN9A

    Find genes that share paralogs with CACNA1E           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CACNA1E
    PGOHUM00000236344


    (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 CACNA1E (see all 6144)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs724253621,2
    C--152775937(+) AAAAA-/AA/AAA
            
    AGAAT
    6 -- int1 cds10--------
    rs1895826661,2
    --181450921(+) CTGGGC/GCTTGG 3 -- us2k10--------
    rs1123076671,2
    C--181450968(+) TTCTA-/TTTTTT 3 -- us2k11Minor allele frequency- T:0.00CSA 2
    rs1913811821,2
    --181451050(+) GGGAGA/GATCCT 3 -- us2k10--------
    rs1498821991,2
    --181451107(+) CCATGG/TAGGGC 3 -- us2k10--------
    rs1476292401,2
    --181451125(+) GGAGAC/TGTCGG 3 -- us2k10--------
    rs1164746521,2
    F--181451153(+) CGGAAC/TCGGGA 3 -- us2k11Minor allele frequency- T:0.03WA 118
    rs6046211,2
    F--181451184(-) TGGCGG/AGAGCT 3 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1161681101,2
    F--181451197(+) AGCCAG/ACACCA 3 -- us2k11Minor allele frequency- A:0.03WA 118
    rs28776511,2
    C,F,A,H--181451245(+) TCCACG/AGGGCC 3 -- us2k115Minor allele frequency- A:0.07NS EA NA CSA 2102

    HapMap Linkage Disequilibrium report for CACNA1E (181382238 - 181632238 bp, first 250kb of CACNA1E)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CACNA1E:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719984CNV Deletion23290073
    esv2720006CNV Deletion23290073
    esv2719995CNV Deletion23290073
    esv269576CNV Insertion20981092
    esv271216CNV Insertion20981092
    esv274432CNV Insertion20981092
    esv274609CNV Insertion20981092
    nsv517925CNV Loss19592680
    nsv516290CNV Gain19592680

    Human Gene Mutation Database (HGMD): CACNA1E
    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA1E

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601013    OMIM disorders: --

    1 disease for CACNA1E:    
    About MalaCards
    migraine

    2 diseases from the University of Copenhagen DISEASES database for CACNA1E:
    Migraine without aura     Migraine with aura

    Find genes that share disorders with CACNA1E           About GenesLikeMe

    Genetic Association Database (GAD): CACNA1E
    Human Genome Epidemiology (HuGE) Navigator: CACNA1E (6 documents)

    Export disorders for CACNA1E 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 CACNA1E gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with CACNA1E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. (PubMed id 8071363)1, 2, 9 Williams M.E.... Ellis S.B. (J. Biol. Chem. 1994)
    2. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    3. 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)
    4. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PubMed id 18676988)1, 4 Nyholt D.R....Palotie A. (Hum. Mol. Genet. 2008)
    5. Variants in the Ca V 2.3 (alpha 1E) subunit of voltage-activated Ca2+ channels are associated with insulin resistance and type 2 diabetes in Pima Indians. (PubMed id 17720895)1, 4 Muller Y.L....Baier L.J. (Diabetes 2007)
    6. Association analysis of chromosome 1 migraine candidate genes. (PubMed id 17727731)1, 4 Fernandez F....Griffiths L.R. (BMC Med. Genet. 2007)
    7. Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion. (PubMed id 17934712)1, 4 Holmkvist J....Groop L. (Diabetologia 2007)
    8. 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)
    9. Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PubMed id 15258581)1, 2 Suzuki T....Yamakawa K. (Nat. Genet. 2004)
    10. Molecular analysis and functional expression of the human type E neuronal Ca2+ channel alpha 1 subunit. (PubMed id 7536609)1, 2 Schneider T.... Birnbaumer M. (Recept. Channels 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 777 HGNC: 1392 AceView: CACNA1E Ensembl:ENSG00000198216 euGenes: HUgn777
    ECgene: CACNA1E Kegg: 777 H-InvDB: CACNA1E

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CACNA1E 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 CACNA1E gene:
    Search GeneIP for patents involving CACNA1E

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



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