Identity
HGNC
LOCATION
19p13.13
LOCUSID
ALIAS
APCA,BI,CACNL1A4,CAV2.1,DEE42,EA2,EIEE42,FHM,HPCA,MHP,MHP1,SCA6
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: 773
MIM: 601011
HGNC: 1388
Ensembl: ENSG00000141837
Variants:
dbSNP: 773
ClinVar: 773
TCGA: ENSG00000141837
COSMIC: CACNA1A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | 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/cacna1a-(calcium-voltage-gated-channel-subunit-alpha1-a)
