CACNA1A (calcium voltage-gated channel subunit alpha1 A)

2016-10-01 Affiliation

Identity

HGNC

CACNA1A

LOCATION

19p13.13

LOCUSID

773

ALIAS

APCA,BI,CACNL1A4,CAV2.1,DEE42,EA2,EIEE42,FHM,HPCA,MHP,MHP1,SCA6

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: 773
MIM: 601011
HGNC: 1388
Ensembl: ENSG00000141837

Variants:

dbSNP: 773
ClinVar: 773
TCGA: ENSG00000141837
COSMIC: CACNA1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141837	ENST00000360228	O00555
ENSG00000141837	ENST00000573710	A0A1C7CYY9
ENSG00000141837	ENST00000573891	I3L391
ENSG00000141837	ENST00000574974	I3L2V5
ENSG00000141837	ENST00000585802	K7EKF7
ENSG00000141837	ENST00000587525	K7EQ95
ENSG00000141837	ENST00000592864	K7EIF8
ENSG00000141837	ENST00000614285	A0A087WW63
ENSG00000141837	ENST00000635727	A0A1B0GU81
ENSG00000141837	ENST00000635895	A0A384DVW2
ENSG00000141837	ENST00000636012	A0A1B0GUS3
ENSG00000141837	ENST00000636058	A0A1B0GUE5
ENSG00000141837	ENST00000636389	A0A1B0GU74
ENSG00000141837	ENST00000636473	A0A1B0GUM7
ENSG00000141837	ENST00000636549	B5TYJ1
ENSG00000141837	ENST00000636768	A0A1B0GUP3
ENSG00000141837	ENST00000637276	O00555
ENSG00000141837	ENST00000637297	A0A1B0GTG6
ENSG00000141837	ENST00000637432	O00555
ENSG00000141837	ENST00000637736	A0A1B0GTW2
ENSG00000141837	ENST00000637769	A0A1B0GTN7
ENSG00000141837	ENST00000637777	A0A1B0GVD8
ENSG00000141837	ENST00000637819	A0A1B0GVX1
ENSG00000141837	ENST00000637927	A0A1B0GTI4
ENSG00000141837	ENST00000638009	O00555
ENSG00000141837	ENST00000638029	A0A087WW63
ENSG00000141837	ENST00000664864	A0A590UJK2

Expression (GTEx)

100

150

200

250

300

350

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
Long-term depression	KEGG	ko04730
Taste transduction	KEGG	ko04742
Type II diabetes mellitus	KEGG	ko04930
MAPK signaling pathway	KEGG	hsa04010
Calcium signaling pathway	KEGG	hsa04020
Long-term depression	KEGG	hsa04730
Taste transduction	KEGG	hsa04742
Type II diabetes mellitus	KEGG	hsa04930
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation	associated	PD
PA448871	celecoxib	Chemical	Pathway	associated		22336956
PA452229	antidepressants	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
36592223	2023	CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.	4
37342032	2023	High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy.	2
38174495	2023	Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.	0
36592223	2023	CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.	4
37342032	2023	High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy.	2
38174495	2023	Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.	0
34263451	2022	Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.	6
34806130	2022	The complexities of CACNA1A in clinical neurogenetics.	11
35722745	2022	Clinical and genetic characterization of CACNA1A-related disease.	9
34263451	2022	Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.	6
34806130	2022	The complexities of CACNA1A in clinical neurogenetics.	11
35722745	2022	Clinical and genetic characterization of CACNA1A-related disease.	9
33086983	2021	Adrenergic Ca(V)1.2 Activation via Rad Phosphorylation Converges at α(1C) I-II Loop.	25
33413531	2021	A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels.	9
33557884	2021	The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.	10

Citation

Dessen P

CACNA1A (calcium voltage-gated channel subunit alpha1 A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56224/img/case-report-explorer/welcome