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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 Fc-GammaR Pathway and Transmission across Chemical Synapses. Gene Ontology (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

Additional gene information for CACNA1E Gene

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

Genomics for CACNA1E Gene

GeneHancer (GH) Regulatory Elements for CACNA1E Gene

Promoters and enhancers for CACNA1E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J181483 Promoter 0.8 EPDnew 650.1 +165.6 165642 0.1 SMAD1 SUZ12 MLLT1 EZH2 ZBTB17 CACNA1E GC01P181526 GC01P181413
GH01J181484 Promoter 0.6 EPDnew 650.1 +165.8 165808 0.1 SUZ12 CACNA1E GC01P181526 GC01P181413
GH01J181482 Enhancer 1 FANTOM5 ENCODE 31.1 +164.7 164680 0.7 CTCF MXI1 RB1 CTBP1 POLR2A SCRT2 ZNF207 ZNF143 IKZF2 EZH2 CACNA1E GC01P181526 GC01P181413
GH01J181447 Enhancer 0.6 ENCODE 18.2 +130.9 130893 1.7 FOSL1 MEIS2 PKNOX1 TEAD4 CBFA2T3 CBFA2T2 RUNX3 CREM CACNA1E GC01P181413 GC01P181526
GH01J181424 Enhancer 0.7 ENCODE 11.6 +107.4 107390 0.2 GTF2F1 CTCF RB1 STAT5A RAD21 RFX5 GATA3 SMC3 ZNF143 ZNF444 CACNA1E GC01P181413 GC01P181526
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1E gene promoter:
  • NRSF form 2
  • NRSF form 1
  • POU2F1
  • POU2F1a
  • Sp1
  • p53
  • C/EBPalpha
  • FOXC1

Genomic Locations for CACNA1E Gene

Genomic Locations for CACNA1E Gene
chr1:181,317,690-181,808,084
(GRCh38/hg38)
Size:
490,395 bases
Orientation:
Plus strand
chr1:181,382,238-181,777,219
(GRCh37/hg19)
Size:
394,982 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 Asn1571, posLast=15661566, and posLast=254254
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1E Gene

Domains & Families for CACNA1E Gene

Gene 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.
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

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.
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

Phenotypes From GWAS Catalog for CACNA1E Gene

Gene Ontology (GO) - Molecular Function for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity TAS,IDA --
GO:0005261 cation channel activity IBA --
GO:0005262 calcium channel activity TAS --
GO:0005509 calcium ion binding IEA --
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1E gene
Compartment Confidence
plasma membrane 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,TAS --
GO:0005891 voltage-gated calcium channel complex TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane 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:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IBA --
GO:0007268 chemical synaptic transmission TAS 8071363
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0050796 regulation of insulin secretion 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker Calcium channel blocker, Ca2+ channel blocker (L-type) 5
calcium Approved Nutra 0
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0
Lamotrigine Approved, Investigational Pharma Target, inhibitor 5-HT inhibitor 189

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Bay K 8644
71145-03-4
Verapamil hydrochloride
152-11-4

(5) Tocris Compounds for CACNA1E Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Nimodipine Ca2+ channel blocker (L-type) 66085-59-4
Nitrendipine Ca2+ channel blocker (L-type) 39562-70-4
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Verapamil hydrochloride Ca2+ channel blocker (L-type) 152-11-4
genes like me logo Genes that share compounds with CACNA1E: view

Transcripts for CACNA1E Gene

mRNA/cDNA for CACNA1E Gene

Unigene Clusters for CACNA1E Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for CACNA1E Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with CACNA1E: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1E Gene

Orthologs for CACNA1E Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1E 34 33
  • 99.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAV2.3 34
  • 97 (a)
OneToOne
CACNA1E 33
  • 92.26 (n)
dog
(Canis familiaris)
Mammalia CACNA1E 34 33
  • 92.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1e 16 34 33
  • 90.44 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1e 33
  • 90.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1E 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1E 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1E 34 33
  • 81.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1E 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1e 33
  • 73.34 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC564274 33
  • 70.95 (n)
cacna1r 34
  • 65 (a)
OneToMany
CACNA1E (2 of 2) 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cac 35
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1E: view image

Paralogs for CACNA1E Gene

Paralogs for CACNA1E Gene

(13) SIMAP similar genes for CACNA1E Gene using alignment to 10 proteins:

  • CAC1E_HUMAN
  • E9PIE8_HUMAN
  • F8W760_HUMAN
  • F8W8A2_HUMAN
  • F8W9Z1_HUMAN
  • J3KP11_HUMAN
  • Q9NY05_HUMAN
  • Q9NYZ5_HUMAN
  • Q9NYZ6_HUMAN
  • Q9UN68_HUMAN

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 Variation AA Info Type
rs771126920 uncertain-significance, Inborn genetic diseases 181,732,721(+) C/T coding_sequence_variant, missense_variant
rs869312920 likely-pathogenic, Inborn genetic diseases 181,724,488(+) T/C coding_sequence_variant, missense_variant
rs886039323 pathogenic, not provided 181,651,440(+) G/A coding_sequence_variant, missense_variant
rs1064795779 likely-pathogenic, not provided 181,511,380(+) G/A coding_sequence_variant, missense_variant
rs12131800 likely-pathogenic, not provided 181,724,499(+) G/A/C coding_sequence_variant, missense_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)

Additional Variant Information 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

Additional Disease Information for CACNA1E

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

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 ME … Ellis SB (The Journal of biological chemistry 1994) 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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. Clinical practice 2010) 3 44 58
  4. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt DR … Palotie A (Human molecular genetics 2008) 3 44 58
  5. Muscarinic modulation of Cav2.3 (R-type) calcium channels is antagonized by RGS3 and RGS3T. (PMID: 16855219) Toro-Castillo C … Meza U (American journal of physiology. Cell physiology 2007) 3 22 58

Products for CACNA1E Gene

Sources for CACNA1E Gene

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