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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

our new
Human Malady Compendium

(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

(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)

(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

(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

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 for CACNA1E:

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	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005891	voltage-gated calcium channel complex	IEA	--

CACNA1E for ontologies About GeneDecksing

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(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

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: CAC1E_HUMAN, Q15878

Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also

involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter

release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type

calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by

nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP),

omega-conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1E

subunit could be involved in the modulation of firing patterns of neurons which is important for information

processing

Genatlas biochemistry entry for CACNA1E:

calcium voltage-gated channel (VDCC),R type,alpha 1E subunit,involved in the modulation of calcium mediated hormone

secretion,isoform 6,abundantly expressed in neuronal tissue,and one form CACNEec specific for islets of Langerhans and

kidney

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005245	voltage-gated calcium channel activity	IDA	8071363
GO:0046872	metal ion binding	IEA	--

CACNA1E for ontologies About GeneDecksing

Phenotypes:
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

Animal Models:
Mouse knock-outs for CACNA1E: Cacna1e^tm1.1Beck Cacna1e^tm1Rjml Cacna1e^tm1.1Tsch

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CACNA1E

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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

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1E

(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-pathway

contained gene-specific pathways

DREAM Repression and Dynorphin Expression

DREAM Repression and Dynorphin Expression	1.00	Caspase Cascade	0.24
BMP Pathway	0.44	Calpain Protease Regulates Cellular Mechanics	0.22
nNOS Signaling in Skeletal Muscle	0.37

PKC-Theta Pathway

PKC-Theta Pathway	1.00	Fc-EpsilonRI Pathway	0.42
TCR Signaling	0.68	PDGF Pathway	0.35
ITK and TCR Signaling	0.54

Sweet Taste Signaling

	Sweet Taste Signaling	1.00			Cellular Effects of Sildenafil	0.46
	Melatonin Signaling	0.72

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

NFAT and Cardiac Hypertrophy

	NFAT and Cardiac Hypertrophy	1.00			IGF1R Signaling	0.37
	Signaling Involved in Cardiac Hypertrophy	0.42

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 Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPA1A	P08107³, ENSP00000364802⁴	I2D: score=1 STRING: ENSP00000364802
EFHC1	Q5JVL4³, ENSP00000360107⁴	I2D: score=2 STRING: ENSP00000360107
CACNB4	O00305³, ENSP00000343563⁴	I2D: score=1 STRING: ENSP00000343563
HSPA1B	P08107³	I2D: score=1
YWHAB	P31946³	I2D: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0001662	behavioral fear response	IEA	--
GO:0002027	regulation of heart rate	IEA	--
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006810	transport	TAS	8071363
GO:0007268	synaptic transmission	TAS	--

CACNA1E for ontologies About GeneDecksing

(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

Browse drugs & compounds from Enzo Life Sciences

Compounds for CACNA1E available from Tocris Bioscience About this table

Compound	Action	CAS #
SNX 482	Potent and selective CaV2.3 blocker (R-type)	[203460-30-4]

1 HMDB Compound for CACNA1E About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (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

(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,
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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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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

(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

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

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Cerebral Cortex

Brain

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

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

SABiosciences Custom PCR Arrays for CACNA1E

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of 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 more	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, more	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	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 according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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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

(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)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189582666^1,2		--	181450921(+)	`CTGGGC/GCTTGG`	3	--	us2k¹		0	--	--	--	--
rs191381182^1,2		--	181451050(+)	`GGGAGA/GATCCT`	3	--	us2k¹		0	--	--	--	--
rs149882199^1,2		--	181451107(+)	`CCATGG/TAGGGC`	3	--	us2k¹		0	--	--	--	--
rs147629240^1,2		--	181451125(+)	`GGAGAC/TGTCGG`	3	--	us2k¹		0	--	--	--	--
rs116474652^1,2	F	--	181451153(+)	`CGGAAC/TCGGGA`	3	--	us2k¹		1		WA	118
rs604621^1,2	F	--	181451184(-)	`TGGCGG/AGAGCT`	3	--	us2k¹		1		WA	118
rs116168110^1,2	F	--	181451197(+)	`AGCCAG/ACACCA`	3	--	us2k¹		1		WA	118
rs2877651^1,2	C,F,A,H	--	181451245(+)	`TCCACG/AGGGCC`	3	--	us2k¹		15		NS EA NA CSA	2102
rs184335548^1,2		--	181451342(+)	`GGAGGA/GGCGGC`	3	--	us2k¹		0	--	--	--	--
rs541886^1,2	C,F,A	--	181451389(-)	`CTAGTA/GAGGTG`	3	--	us2k¹		8		MN 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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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CACNA1E gene, integrated from 9 sources (see all 62):
(articles sorted by number of sources associating them with CACNA1E)

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Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. (PubMed id 8071363)^{1, 2, 9} Williams M.E.... Ellis S.B. (1994)
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)
Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PubMed id 15258581)^{1, 2} Suzuki T....Yamakawa K. (2004)
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)
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)
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)
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)
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)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 777	HGNC: 1392	AceView: CACNA1E	Ensembl:ENSG00000198216	euGenes: HUgn777
ECgene: CACNA1E	Kegg: 777	H-InvDB: CACNA1E

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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.)

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Patent Information for CACNA1E gene:
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GeneCards and IP:
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CACNA1E Gene

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

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CACNA1E Gene

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

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