CACNA1E Gene (Protein Coding)

Calcium Voltage-Gated Channel Subunit Alpha1 E

GC01P181317
GIFtS:
47
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... See more...

Aliases for CACNA1E Gene

Aliases for CACNA1E Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 E 2 3 5
  • CACH6 2 3 4
  • BII 2 3 4
  • Voltage-Dependent R-Type Calcium Channel Subunit Alpha-1E 3 4
  • Brain Calcium Channel II 3 4
  • CACNL1A6 3 4
  • Cav2.3 2 3
  • Calcium Channel, Voltage-Dependent, R Type, Alpha 1E Subunit 2
  • 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
  • CACNA1E 5
  • EIEE69 3
  • DEE69 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
  • GC01P181382
  • 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. Diseases associated with CACNA1E include Developmental And Epileptic Encephalopathy 69 and Developmental And Epileptic Encephalopathy. Among its related pathways are ERK Signaling and Activation of cAMP-Dependent PKA. 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 Summary for CACNA1E Gene

  • Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They 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. They are however insensitive to dihydropyridines (DHP). 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 , Rfam classification and piRNA Summary for CACNA1E Gene

Genomics for CACNA1E Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH01J181486 Promoter 1.2 EPDnew Ensembl 250.1 +165.4 165411 0.6 ZNF341 EBF1 MAX TAF1 SPI1 BHLHE40 ZNF189 NRF1 RB1 IKZF1 HSALNG0008872 HSALNG0008873 CACNA1E RF01045-014 ZNF648
GH01J181318 Enhancer 0.6 Ensembl 250.7 +0.8 768 0.5 CTCF ZBTB48 EZH2 ZNF692 EGR2 ZBTB17 POLR2A GLIS2 PRDM10 ZBTB20 CACNA1E HSALNG0008867 ZNF648
GH01J181317 Enhancer 0.5 Ensembl 250.7 -0.1 -89 0.8 REST EZH2 ZNF692 POLR2A PRDM10 ZBTB20 ZBTB26 ZNF335 CACNA1E LOC107985454 IER5
GH01J181484 Promoter 0.4 EPDnew 250.1 +165.8 165808 0.1 EZH2 HSALNG0008872 HSALNG0008873 CACNA1E RF01045-014 ZNF648
GH01J181319 Enhancer 0.4 Ensembl 250.7 +1.2 1211 0.2 EZH2 PRDM10 ZNF335 CACNA1E HSALNG0008867 ZNF648
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA1E

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

Genomic Locations for CACNA1E Gene

Latest Assembly
chr1:181,317,690-181,808,084
(GRCh38/hg38)
Size:
490,395 bases
Orientation:
Plus strand

Previous Assembly
chr1:181,452,653-181,777,219
(GRCh37/hg19 by Entrez Gene)
Size:
324,567 bases
Orientation:
Plus strand

chr1:181,382,238-181,777,219
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for CACNA1E Gene

Proteins for CACNA1E Gene

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  • 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

Protein Expression for CACNA1E Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CACNA1E Gene

  • Glycosylation at Asn254, Asn1566, and Asn1571
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNA1E Gene

Domains & Families for CACNA1E Gene

Gene Families for CACNA1E Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for CACNA1E Gene

InterPro:
Blocks:
  • Calcium channel signature
  • R-type voltage-dependent calcium channel alpha-1 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for CACNA1E Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated calcium channel subunit alpha Cav2.3 (CAC1E_HUMAN)
  • Voltage-dependent calcium channel alpha 1E subunit (Q9NY05_HUMAN)
  • Calcium channel alpha1E subunit, delta19 delta40 delta46 splice variant (Q9NYZ5_HUMAN)
  • Calcium channel alpha1E subunit, delta39 splice variant (Q9NYZ6_HUMAN)
  • Voltage-gated calcium channel alpha 1E subunit (Q9UN68_HUMAN)

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

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Molecular function for CACNA1E Gene

UniProtKB/Swiss-Prot Function:
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They 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. They are however insensitive to dihydropyridines (DHP). 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:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IDA 8071363
GO:0005262 calcium channel activity IEA --
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

Human Phenotype Ontology for CACNA1E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1E Gene

MGI Knock Outs for CACNA1E:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1E

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

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 TAS --
GO:0005891 voltage-gated calcium channel complex TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with CACNA1E: view

Pathways & Interactions for CACNA1E Gene

PathCards logo

SuperPathways for CACNA1E Gene

SuperPathway Contained pathways
1 nNOS Signaling in Skeletal Muscle
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels
.01
2 TCR Signaling (Qiagen)
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
3 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
PKA Signaling
.56
4 CCR5 Pathway in Macrophages
Androgen Signaling
.52
CCR5 Pathway in Macrophages
.52
Chemokine Signaling
.33
5 Sweet Taste Signaling
Melatonin Signaling
.72
Sweet Taste Signaling
.72
Cellular Effects of Sildenafil
.46
genes like me logo Genes that share pathways with CACNA1E: view

Pathways by source for CACNA1E Gene

1 BioSystems pathway for CACNA1E Gene
1 GeneGo (Thomson Reuters) pathway for CACNA1E Gene
  • Transcription CREB pathway
38 Qiagen pathways for CACNA1E Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

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 IBA 21873635
GO:0007268 chemical synaptic transmission TAS,IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitrendipine Approved, Investigational Pharma Calcium channel blocker, Ca2+ channel blocker (L-type) 8
Bioallethrin Approved, Experimental Pharma Target, agonist 0
Butamben Approved, Withdrawn Pharma Target, inhibitor 0
Calcium citrate Approved, Investigational Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0

(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

(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

Drug products for research

Transcripts for CACNA1E Gene

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mRNA/cDNA for CACNA1E Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1E

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

No ASD Table

Relevant External Links for CACNA1E Gene

GeneLoc Exon Structure for
CACNA1E

Expression for CACNA1E Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNA1E Gene

mRNA expression in normal human tissues for CACNA1E Gene
mRNA expression by GTEx for CACNA1E GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Blood(2.6)
  • Skin(2.5)
  • Muscle(2.4)
  • Heart(2.3)
  • Kidney(2.3)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with CACNA1E: view

Primer products for research

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 30 31
  • 99.51 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CAV2.3 31
  • 97 (a)
 OneToOne
CACNA1E 30
  • 92.26 (n)
Dog
(Canis familiaris)
 Mammalia CACNA1E 30 31
  • 92.47 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cacna1e 30 17 31
  • 90.44 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cacna1e 30
  • 90.23 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia CACNA1E 31
  • 87 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CACNA1E 31
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CACNA1E 30 31
  • 81.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CACNA1E 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cacna1e 30
  • 73.34 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC564274 30
  • 70.95 (n)
cacna1r 31
  • 65 (a)
 OneToMany
CACNA1E (2 of 2) 31
  • 63 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta cac 32
  • 60 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 49 (a)
 OneToMany
Species where no ortholog for CACNA1E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA1E Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
870847 Pathogenic: not provided 181,724,489(+) C/A
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) 		MISSENSE
870848 Uncertain Significance: not provided 181,771,352(+) GA/G
NM_001205293.3(CACNA1E):c.4942del (p.Ser1648fs) 		FRAMESHIFT
870849 Uncertain Significance: not provided 181,783,743(+) T/C
NM_001205293.3(CACNA1E):c.5429T>C (p.Met1810Thr) 		MISSENSE
928919 Uncertain Significance: not specified 181,718,127(+) G/A
NM_001205293.3(CACNA1E):c.1598G>A (p.Arg533His) 		MISSENSE
931176 Uncertain Significance: Developmental and epileptic encephalopathy, 69 181,798,497(+) G/A
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNA1E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CACNA1E Gene

MalaCards: The human disease database

(19) MalaCards diseases for CACNA1E Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1E_HUMAN
  • Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE69 is an autosomal dominant form characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication. {ECO:0000269 PubMed:30343943}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CACNA1E

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CACNA1E: view

No data available for Genatlas for CACNA1E Gene

Publications for CACNA1E Gene

  1. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (PMID: 30343943) Helbig KL … Mefford HC (American journal of human genetics 2018) 3 4 74
  2. 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 23
  3. 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 41
  4. 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 41
  5. 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 41

ExternalLinks

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