CACNA1E (calcium voltage-gated channel subunit alpha1 E)

2007-03-01 Affiliation

Identity

HGNC

CACNA1E

LOCATION

1q25.3

LOCUSID

777

ALIAS

BII,CACH6,CACNL1A6,Cav2.3,DEE69,EIEE69,gm139

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000198216	ENST00000357570	J3KP11
ENSG00000198216	ENST00000358338	Q15878
ENSG00000198216	ENST00000360108	F8W9Z1
ENSG00000198216	ENST00000367567	Q15878
ENSG00000198216	ENST00000367570	Q15878
ENSG00000198216	ENST00000367573	Q15878
ENSG00000198216	ENST00000524607	E9PIE8
ENSG00000198216	ENST00000621551	Q15878
ENSG00000198216	ENST00000621791	Q15878
ENSG00000198216	ENST00000644521	A0A2R8Y7W1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
MAPK signaling pathway	KEGG	ko04010
Calcium signaling pathway	KEGG	ko04020
Type II diabetes mellitus	KEGG	ko04930
MAPK signaling pathway	KEGG	hsa04010
Calcium signaling pathway	KEGG	hsa04020
Type II diabetes mellitus	KEGG	hsa04930
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels	REACTOME	R-HSA-112308
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356

PharmGKB

Entity ID	Name	Type	Evidence	Association	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-(calcium-voltage-gated-channel-subunit-alpha1-e)