Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
CACNA1HB,Cav3.2,ECA6,EIG6,HALD4
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: 8912
MIM: 607904
HGNC: 1395
Ensembl: ENSG00000196557
Variants:
dbSNP: 8912
ClinVar: 8912
TCGA: ENSG00000196557
COSMIC: CACNA1H
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38554447 | 2024 | The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury. | 0 |
| 38554447 | 2024 | The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury. | 0 |
| 36786913 | 2023 | Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes. | 3 |
| 36786913 | 2023 | Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes. | 3 |
| 35757409 | 2022 | A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism. | 2 |
| 36128556 | 2022 | Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified. | 0 |
| 36347081 | 2022 | The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell. | 1 |
| 36397158 | 2022 | Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia. | 2 |
| 35757409 | 2022 | A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism. | 2 |
| 36128556 | 2022 | Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified. | 0 |
| 36347081 | 2022 | The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell. | 1 |
| 36397158 | 2022 | Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia. | 2 |
| 33478561 | 2021 | Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp? | 2 |
| 34098317 | 2021 | The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. | 2 |
| 34399820 | 2021 | De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy. | 4 |
Citation
Dessen P
CACNA1H (calcium voltage-gated channel subunit alpha1 H)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43967/cacna1h
