Identity
HGNC
LOCATION
1q25.3
LOCUSID
ALIAS
BII,CACH6,CACNL1A6,Cav2.3,DEE69,EIEE69,gm139
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 777
MIM: 601013
HGNC: 1392
Ensembl: ENSG00000198216
Variants:
dbSNP: 777
ClinVar: 777
TCGA: ENSG00000198216
COSMIC: CACNA1E
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445210 | Pain, Postoperative | Disease | ClinicalAnnotation | associated | PD | ||
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 | ||
| PA449599 | fentanyl | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38081835 | 2023 | Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. | 1 |
| 38081835 | 2023 | Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. | 1 |
| 34837834 | 2022 | Direct inhibition of Ca(V)2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction. | 0 |
| 35026540 | 2022 | Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer. | 5 |
| 34837834 | 2022 | Direct inhibition of Ca(V)2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction. | 0 |
| 35026540 | 2022 | Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer. | 5 |
| 34702355 | 2021 | De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. | 6 |
| 34702355 | 2021 | De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. | 6 |
| 32019549 | 2020 | F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca(v)2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung. | 2 |
| 32529299 | 2020 | Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective. | 9 |
| 32019549 | 2020 | F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca(v)2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung. | 2 |
| 32529299 | 2020 | Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective. | 9 |
| 30343943 | 2018 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | 50 |
| 30343943 | 2018 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | 50 |
| 28573794 | 2017 | Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes. | 7 |
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
