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

CACNA1E Gene

protein-coding   GIFtS: 62
GCID: GC01P181382

calcium channel, voltage-dependent, R type, alpha 1E subunit


(Previous symbol: CACNL1A6)
 Explore 20 diseases affiliated with
CACNA1E via
MalaCards
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 Human Malady Compendium 
Biological research products
for CACNA1E    

Aliases
for CACNA1E gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Calcium Channel, Voltage-Dependent, R Type, Alpha 1E Subunit1 2     Calcium Channel, R Type, Alpha-1 Polypeptide2
CACNL1A61 2 3 5     Calcium Channel, Voltage-Dependent, Alpha 1E Subunit2
BII1 2 3     Voltage-Dependent Calcium Channel Alpha 1E Subunit2
CACH61 2 3     Voltage-Dependent R-Type Calcium Channel Subunit Alpha-1E2
Cav2.31 2     Voltage-Gated Calcium Channel Alpha 1E Subunit2
Brain Calcium Channel II2 3     Voltage-Gated Calcium Channel Alpha Subunit Cav2.32
Voltage-Gated Calcium Channel Subunit Alpha Cav2.32 3     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


Summaries
for CACNA1E gene

(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 CACNA1E:
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)

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:
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)


Genomic Views
for CACNA1E 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CACNA1E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CACNA1E gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15878

    • CACNA1E Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals CACNA1E Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    CACNA1E for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CACNA1E gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CACNA1E for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR002048 EF_hand_Ca-bd
     IPR002077 VDCCAlpha1
     IPR014873 VDCC_a1su_IQ
     IPR005821 Ion_trans_dom
     IPR005449 VDCC_R_a1su

    Graphical View of Domain Structure for InterPro Entry Q15878

    ProtoNet protein and cluster: Q15878

    2 Blocks protein families:
    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


    Function
    for CACNA1E gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CACNA1E
    8/116 QIAGEN miScript miRNA 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 plasmid: CACNA1E 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA1E (see all 7)
    OriGene shRNA RFP: CACNA1E
    OriGene siRNA: CACNA1E
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CACNA1E

    Gene Editing
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    Clone
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IDA8071363
    GO:0046872metal ion binding IEA--


    CACNA1E for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for CACNA1E: Cacna1etm1.1Beck Cacna1etm1Rjml Cacna1etm1.1Tsch
         6 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Cacna1e):
     behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism  nervous system 
     normal 

    CACNA1E for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CACNA1E gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/30 super-pathways (see all 30) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    		DREAM Repression and Dynorphin Expression1.00
    		Caspase Cascade0.24
    		BMP Pathway0.44
    		Calpain Protease Regulates Cellular Mechanics0.22
    		nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    		PKC-Theta Pathway1.00
    		Fc-EpsilonRI Pathway0.42
    		TCR Signaling0.68
    		PDGF Pathway0.35
    		ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    		Sweet Taste Signaling1.00
    		Cellular Effects of Sildenafil0.46
    		Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		PKA Signaling0.56
    		cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		IGF1R Signaling0.37
    		Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for CACNA1E
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/38 Downloadable PowerPoint Slides of QIAGEN 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

    5/6        Reactome Pathways for CACNA1E (see all 6)
        Transmission across Chemical Synapses
    Metabolism
    Regulation of Insulin Secretion
    Integration of energy metabolism
    Neuronal System

    2 PharmGKB Pathways for CACNA1E
        Celecoxib Pathway, Pharmacodynamics
    Sympathetic Nerve Pathway (Neuroeffector Junction)

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


    CACNA1E for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1E

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

    5/50 Interacting proteins for CACNA1E (Q158783 ENSP000003565454) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    EFHC1Q5JVL43, ENSP000003601074I2D: score=2 STRING: ENSP00000360107
    CACNB4O003053, ENSP000003435634I2D: score=1 STRING: ENSP00000343563
    HSPA1BP081073I2D: score=1 
    YWHABP319463I2D: score=1 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    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:0007268synaptic transmission TAS--


    CACNA1E for ontologies           About GeneDecksing



    Drugs & Compounds
    for CACNA1E gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA1E for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for CACNA1E available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SNX 482Potent and selective CaV2.3 blocker (R-type)[203460-30-4]

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

    Search CenterWatch for drugs/clinical trials and news about CACNA1E / CAC1E 

    Transcripts
    for CACNA1E gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    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 plasmid: CACNA1E 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA1E (see all 7)
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CACNA1E
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    Additional cDNA 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 

    24/40 AceView cDNA sequences (see all 40):

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

    GeneLoc Exon Structure


    Expression
    for CACNA1E gene

    (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

    CACNA1E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGTAAAGTG

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

    CACNA1E expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainCerebral CortexBrain
    Spinal CordPresumptive Spinal CordSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (Generation of mesend...)

    See CACNA1E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA1E

    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
    for CACNA1E gene

    (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 CACNA1E gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CACNA1E1 calcium channel, voltage-dependent, R type, alpha 1E subunit less 81.25(n)
    87.65(a)    		   424412  XM_422255.3  XP_422255.3 
    lizard
    (Anolis carolinensis)    		 Reptilia CACNA1E6
    		 --
    		 85(a)
    		 1 ↔ 1
    		 4(69088805-69218215)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5642741 novel protein similar to vertebrate calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E) less 68.27(n)
    71.9(a)    		   564274  XM_001920742.2  XP_001920777.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta cac3 courtship behavior voltage-gated calcium
    channel less    		 60(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-26
    		 UNCoordinated family member (unc-2)
    		 45(a)
    		 1 → many
    		 X(2710913-2748107)


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

    Paralogs
    for CACNA1E gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1E gene
    CACNA1A2  SCN5A2  SCN9A2  CACNA1D2  CACNA1I2  SCN7A2  CACNA1F2  SCN8A2  
    CACNA1G2  SCN10A2  SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN11A2  
    SCN4A2  SCN1A2  CACNA1B2  
    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    SCN9A
    CACNA1F

    CACNA1E for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CACNA1E
    PGOHUM00000236344


    Genomic Variants
    for CACNA1E gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5209 NCBI SNPs in CACNA1E are shown (see all 5209)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1895826661,2
    		--181450921(+) CTGGGC/GCTTGG 3 -- us2k10--------
    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
    rs1843355481,2
    		--181451342(+) GGAGGA/GGCGGC 3 -- us2k10--------
    rs5418861,2
    		C,F,A,--181451389(-) CTAGTA/GAGGTG 3 -- us2k18Minor allele frequency- G:0.30MN NA WA CSA EA 549

    HapMap Linkage Disequilibrium report for CACNA1E (181382238 - 181632238 bp, first 250kb of CACNA1E)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for CACNA1E
         1 CNV: 48186
         4 Indels: 84693 74805 84694 74806
    Human Gene Mutation Database (HGMD): CACNA1E

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    Disorders / Diseases
    for CACNA1E gene

    (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.)
    About This Section
    CACNA1E for disorders           About GeneDecksing

    OMIM gene information: 601013    OMIM disorders: --

    20 diseases for CACNA1E:    About MalaCards
    specific phobia    prader-willi syndrome    juvenile myoclonic epilepsy    duodenogastric reflux
    hemiplegic migraine    bile reflux    phobia    absence epilepsy
    episodic ataxia    peptic ulcer    neuronitis    insulin resistance
    migraine    neuroendocrine tumor    wilms tumor    insulinoma
    gastritis    ataxia    pneumonia    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for CACNA1E:
    Migraine without aura     Migraine with aura
    Human Genome Epidemiology (HuGE) Navigator: CACNA1E (6 documents)

    Export disorders for CACNA1E gene to outside databases

    Publications
    for CACNA1E gene

    (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 CACNA1E gene, integrated from 9 sources (see all 62):
    (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. (1994)
    2. 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. (2005)
    3. Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PubMed id 15258581)1, 2 Suzuki T....Yamakawa K. (2004)
    4. 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. (1994)
    5. Structure and functional expression of a member of the low voltage-activated calcium channel family. (PubMed id 8388125)1, 3 Soong T.W....Snutch T.P. (1993)
    6. Neurokinin 1 receptors trigger overlapping stimulation and inhibition of CaV2.3 (R-type) calcium channels. (PubMed id 17050807)1, 9 Meza U....Adams B.A. (2007)
    7. Muscarinic modulation of Cav2.3 (R-type) calcium channels is antagonized by RGS3 and RGS3T. (PubMed id 16855219)1, 9 Toro-Castillo C....Meza U. (2007)
    8. Locations of human genes for alpha 1A, alpha 1B, and alpha 1E calcium channels determined by radiation hybrid mapping. (PubMed id 9656471)1, 9 Yamazaki K....Tanaka I. (1998)
    9. A quartet of leucine residues in the guanylate kinase domain of CaVb determines the plasma membrane density of the CaV2.3 channel. (PubMed id 22846999)1 Shakeri B....Parent L. (2012)
    10. CACNA1E variants affect beta cell function in patients with newly diagnosed type 2 diabetes. the Verona newly diagnosed type 2 diabete s study (VNDS) 3. (PubMed id 22427875)1 Trombetta M....Bonadonna R.C. (2012)

    External Searches for CACNA1E gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing CACNA1E gene

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

    Other Databases showing CACNA1E gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CACNA1E gene

    (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 CACNA1E Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CACNA1E gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CACNA1E gene:
    Search GeneIP for patents involving CACNA1E

    GeneCards and IP:
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