CACNA1E (calcium voltage-gated channel subunit alpha1 E)

2007-03-01  

Identity

HGNC
LOCATION
1q25.3
LOCUSID
ALIAS
BII,CACH6,CACNL1A6,Cav2.3,DEE69,EIEE69,gm139
FUSION GENES

Other Information

Locus ID:

NCBI: 777
MIM: 601013
HGNC: 1392
Ensembl: ENSG00000198216

Variants:

dbSNP: 777
ClinVar: 777
TCGA: ENSG00000198216
COSMIC: CACNA1E

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198216ENST00000357570J3KP11
ENSG00000198216ENST00000358338Q15878
ENSG00000198216ENST00000360108F8W9Z1
ENSG00000198216ENST00000367567Q15878
ENSG00000198216ENST00000367570Q15878
ENSG00000198216ENST00000367573Q15878
ENSG00000198216ENST00000524607E9PIE8
ENSG00000198216ENST00000621551Q15878
ENSG00000198216ENST00000621791Q15878
ENSG00000198216ENST00000644521A0A2R8Y7W1

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
Type II diabetes mellitusKEGGko04930
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Type II diabetes mellitusKEGGhsa04930
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445210Pain, PostoperativeDiseaseClinicalAnnotationassociatedPD
PA448871celecoxibChemicalPathwayassociated22336956
PA449599fentanylChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
214823592011Cav2.3 channels are critical for oscillatory burst discharges in the reticular thalamus and absence epilepsy.32
186769882008A high-density association screen of 155 ion transport genes for involvement with common migraine.22
171894002006Amplification and overexpression of CACNA1E correlates with relapse in favorable histology Wilms' tumors.17
179347122007Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion.16
179347122007Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion.16
176602942007The role of distal S6 hydrophobic residues in the voltage-dependent gating of CaV2.3 channels.15
303439432018De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.15
170508072007Neurokinin 1 receptors trigger overlapping stimulation and inhibition of CaV2.3 (R-type) calcium channels.11
158450892005Presynaptic 'Ca2.3-containing' E-type Ca channels share dual roles during neurotransmitter release.9

Citation

Dessen P

CACNA1E (calcium voltage-gated channel subunit alpha1 E)

Atlas Genet Cytogenet Oncol Haematol. 2007-03-01

Online version: http://atlasgeneticsoncology.org/gene/46611/cacna1e