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Aliases for CACNA1E Gene

Aliases for CACNA1E Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 E 2 3 5
  • Brain Calcium Channel II 3 4
  • CACNL1A6 3 4
  • CACH6 3 4
  • BII 3 4
  • Calcium Channel, Voltage-Dependent, R Type, Alpha 1E Subunit 2
  • Voltage-Dependent R-Type Calcium Channel Subunit Alpha-1E 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 6 4
  • Calcium Voltage-Gated Channel Subunit Alpha1 Subunit E 2
  • Voltage-Dependent Calcium Channel Alpha 1E Subunit 3
  • Voltage-Gated Calcium Channel Alpha Subunit Cav2.3 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav2.3 4
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Calcium Channel, R Type, Alpha-1 Polypeptide 3
  • Cav2.3 3
  • Gm139 3

External Ids for CACNA1E Gene

Previous HGNC Symbols for CACNA1E Gene

  • CACNL1A6

Previous GeneCards Identifiers for CACNA1E Gene

  • GC01P178976
  • GC01P176881
  • GC01P177972
  • GC01P178692
  • GC01P178184
  • GC01P179648
  • GC01P179719
  • GC01P152684

Summaries for CACNA1E Gene

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 Voltage-Gated Channel Subunit Alpha1 E) is a Protein Coding gene. Among its related pathways are NFAT and Cardiac Hypertrophy and TCR Signaling (Qiagen). GO annotations related to this gene include calcium ion binding and voltage-gated calcium channel activity. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot for CACNA1E Gene

  • 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.

Tocris 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 depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1E Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1E Gene

Genomics for CACNA1E Gene

Regulatory Elements for CACNA1E Gene

Enhancers for CACNA1E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CACNA1E on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNA1E Gene

Chromosome:
1
Start:
181,413,102 bp from pter
End:
181,808,084 bp from pter
Size:
394,983 bases
Orientation:
Plus strand

Genomic View for CACNA1E Gene

Genes around CACNA1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1E Gene

Proteins for CACNA1E Gene

  • Protein details for CACNA1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15878-CAC1E_HUMAN
    Recommended name:
    Voltage-dependent R-type calcium channel subunit alpha-1E
    Protein Accession:
    Q15878
    Secondary Accessions:
    • B1AM12
    • B1AM13
    • B1AM14
    • Q14580
    • Q14581

    Protein attributes for CACNA1E Gene

    Size:
    2313 amino acids
    Molecular mass:
    261731 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CACNA1E Gene

    Alternative splice isoforms for CACNA1E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1E Gene

Post-translational modifications for CACNA1E Gene

  • Glycosylation at Asn 254, Asn 1566, and Asn 1571
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1E Gene

Domains & Families for CACNA1E Gene

Graphical View of Domain Structure for InterPro Entry

Q15878

UniProtKB/Swiss-Prot:

CAC1E_HUMAN :
  • 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.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily.
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.
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily.
genes like me logo Genes that share domains with CACNA1E: view

Function for CACNA1E Gene

Molecular function for CACNA1E Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity TAS --
GO:0005262 calcium channel activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0008331 high voltage-gated calcium channel activity IBA --
genes like me logo Genes that share ontologies with CACNA1E: view
genes like me logo Genes that share phenotypes with CACNA1E: view

Animal Models for CACNA1E Gene

MGI Knock Outs for CACNA1E:

Animal Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA1E Gene

Localization for CACNA1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1E Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1E Gene COMPARTMENTS Subcellular localization image for CACNA1E gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA --
genes like me logo Genes that share ontologies with CACNA1E: view

Pathways & Interactions for CACNA1E Gene

genes like me logo Genes that share pathways with CACNA1E: view

Gene Ontology (GO) - Biological Process for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8071363
GO:0007268 chemical synaptic transmission TAS 8071363
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0050796 regulation of insulin secretion TAS --
GO:0051899 membrane depolarization TAS --
genes like me logo Genes that share ontologies with CACNA1E: view

No data available for SIGNOR curated interactions for CACNA1E Gene

Drugs & Compounds for CACNA1E Gene

(36) Drugs for CACNA1E Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amlodipine Approved Pharma Calcium channel blocker 464
Azelnidipine Approved Pharma L-type calcium channel blocker;antihypertensive 0
Cilnidipine Approved Pharma Blocker of Dual L- and N-type calcium channel 8
Clevidipine Approved Pharma 20
Felodipine Approved, Investigational Pharma Potentiation, Activator 22

(3) Additional Compounds for CACNA1E Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Bay K 8644
71145-03-4
omega-agatoxin IVA
Channel blocker 145017-83-0
omega-conotoxin GVIA
Channel blocker 106375-28-4

(5) Tocris Compounds for CACNA1E Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) 106375-28-4
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 148553-50-8

(29) ApexBio Compounds for CACNA1E Gene

Compound Action Cas Number
2-APB 524-95-8
Amlodipine Calcium channel blocker 88150-42-9
Amlodipine Besylate Block of L-type calcium channel 111470-99-6
Azelnidipine L-type calcium channel blocker;antihypertensive 123524-52-7
Benidipine HCl Calcium channel blocker 91599-74-5
Cilnidipine Blocker of Dual L- and N-type calcium channel 132203-70-4
Cinepazide maleate 26328-04-1
Clevidipine Butyrate 167221-71-8
Dehydroepiandrosterone (DHEA) Endogenous steroid hormone 53-43-0
Diltiazem HCl 33286-22-5
Felodipine 72509-76-3
Flunarizine 2HCl Calcium entry blocker 30484-77-6
Gabapentin HCl GABA analog 60142-95-2
Isradipine (Dynacirc) Calcium channel blocker 75695-93-1
Lacidipine L-type calcium channel blocker 103890-78-4
Lomerizine HCl 101477-54-7
Manidipine Calcium channel blocker 89226-50-6
Manidipine 2HCl 89226-75-5
Nicardipine HCl 54527-84-3
Nilvadipine 75530-68-6
Nisoldipine 63675-72-9
Nitrendipine Calcium channel blocker 39562-70-4
Ranolazine 2HCl Partial fatty acid oxidation inhibitor 95635-56-6
Strontium Ranelate 135459-87-9
Tetracaine HCl Anaesthetic and allosteric inhibitor 136-47-0
Tetrandrine 518-34-3
Thioridazine HCl Calcium channel protein inhibitor 130-61-0
Verapamil HCl 152-11-4
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect 68291-97-4
genes like me logo Genes that share compounds with CACNA1E: view

Transcripts for CACNA1E Gene

Unigene Clusters for CACNA1E Gene

Calcium channel, voltage-dependent, R type, alpha 1E subunit:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1E Gene

No ASD Table

Relevant External Links for CACNA1E Gene

GeneLoc Exon Structure for
CACNA1E
ECgene alternative splicing isoforms for
CACNA1E

Expression for CACNA1E Gene

mRNA expression in normal human tissues for CACNA1E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1E Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x8.8), Brain - Putamen (basal ganglia) (x5.9), Brain - Caudate (basal ganglia) (x5.8), Brain - Cortex (x4.6), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for CACNA1E Gene

This gene is overexpressed in Serum (40.2), Frontal cortex (20.1), and Fetal Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1E Gene



Protein tissue co-expression partners for CACNA1E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACNA1E Gene:

CACNA1E

SOURCE GeneReport for Unigene cluster for CACNA1E Gene:

Hs.437444

mRNA Expression by UniProt/SwissProt for CACNA1E Gene:

Q15878-CAC1E_HUMAN
Tissue specificity: Expressed in neuronal tissues and in kidney.
genes like me logo Genes that share expression patterns with CACNA1E: view

Primer Products

Orthologs for CACNA1E Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1E Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNA1E 34
  • 92.26 (n)
  • 96.91 (a)
CAV2.3 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1E 34
  • 92.47 (n)
  • 96.8 (a)
CACNA1E 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1e 34
  • 90.44 (n)
  • 96.48 (a)
Cacna1e 16
Cacna1e 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNA1E 34
  • 99.51 (n)
  • 99.7 (a)
CACNA1E 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1e 34
  • 90.23 (n)
  • 95.99 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNA1E 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1E 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1E 34
  • 81.3 (n)
  • 87.59 (a)
CACNA1E 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1E 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1e 34
  • 73.34 (n)
  • 79.85 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC564274 34
  • 70.95 (n)
  • 75.96 (a)
CACNA1E (2 of 2) 35
  • 63 (a)
OneToMany
cacna1r 35
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cac 36
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToMany
Species where no ortholog for CACNA1E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACNA1E Gene

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

Paralogs for CACNA1E Gene

Paralogs for CACNA1E Gene

Pseudogenes.org Pseudogenes for CACNA1E Gene

genes like me logo Genes that share paralogs with CACNA1E: view

Variants for CACNA1E Gene

Sequence variations from dbSNP and Humsavar for CACNA1E Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs35737760 - 181,732,663(+) GGGGA(A/T)GGAGG reference, missense
rs704326 - 181,790,521(-) ATCGG(C/T)GGGGT reference, missense
rs3678 -- 181,804,882(-) AAGAA(C/T)AGAGT utr-variant-3-prime
rs3681 -- 181,804,812(-) TCAAA(C/T)GCTTA utr-variant-3-prime
rs148094 -- 181,767,511(+) CCTGC(C/T)GGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1E Gene

Variant ID Type Subtype PubMed ID
esv2719984 CNV deletion 23290073
esv2719995 CNV deletion 23290073
esv2720006 CNV deletion 23290073
esv3306940 CNV mobile element insertion 20981092
esv3310337 CNV mobile element insertion 20981092
esv3323984 CNV insertion 20981092
esv3448829 CNV insertion 20981092
esv3588086 CNV loss 21293372
esv3588089 CNV loss 21293372
nsv1144418 CNV deletion 24896259
nsv477334 CNV novel sequence insertion 20440878
nsv516290 CNV gain 19592680
nsv517925 CNV loss 19592680

Variation tolerance for CACNA1E Gene

Residual Variation Intolerance Score: 3.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1E Gene

Human Gene Mutation Database (HGMD)
CACNA1E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1E Gene

Disorders for CACNA1E Gene

Relevant External Links for CACNA1E

Genetic Association Database (GAD)
CACNA1E
Human Genome Epidemiology (HuGE) Navigator
CACNA1E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1E

No disorders were found for CACNA1E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACNA1E Gene

Publications for CACNA1E Gene

  1. Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. (PMID: 8071363) Williams M.E. … Ellis S.B. (J. Biol. Chem. 1994) 3 4 22 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. 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. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 65
  4. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt D.R. … Palotie A. (Hum. Mol. Genet. 2008) 3 46 65
  5. Muscarinic modulation of Cav2.3 (R-type) calcium channels is antagonized by RGS3 and RGS3T. (PMID: 16855219) Toro-Castillo C. … Meza U. (Am. J. Physiol., Cell Physiol. 2007) 3 22 65

Products for CACNA1E Gene

Sources for CACNA1E Gene

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