Identity
HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3,PASNA,SANDD
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: 776
MIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388
Variants:
dbSNP: 776
ClinVar: 776
TCGA: ENSG00000157388
COSMIC: CACNA1D
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA33748 | PRKACA | Gene | Pathway | associated | |||
| PA33749 | PRKACB | Gene | Pathway | associated | |||
| PA33750 | PRKACG | Gene | Pathway | associated | |||
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 | ||
| PA451846 | valproic acid | Chemical | Pathway | associated | 23407051 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38378373 | 2024 | Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population. | 0 |
| 38783117 | 2024 | Ca(V)1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy. | 0 |
| 38378373 | 2024 | Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population. | 0 |
| 38783117 | 2024 | Ca(V)1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy. | 0 |
| 36592224 | 2023 | CACNA1D-Related Channelopathies: From Hypertension to Autism. | 3 |
| 36949059 | 2023 | CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation. | 1 |
| 37698939 | 2023 | The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. | 2 |
| 37846579 | 2023 | CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals. | 0 |
| 36592224 | 2023 | CACNA1D-Related Channelopathies: From Hypertension to Autism. | 3 |
| 36949059 | 2023 | CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation. | 1 |
| 37698939 | 2023 | The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. | 2 |
| 37846579 | 2023 | CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals. | 0 |
| 35779252 | 2022 | Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults. | 3 |
| 36350063 | 2022 | The ubiquitin E3 ligase Parkin regulates neuronal Ca(V)1.3 channel functional expression. | 3 |
| 36430690 | 2022 | Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy. | 3 |
Citation
Dessen P
CACNA1D (calcium voltage-gated channel subunit alpha1 D)
Atlas Genet Cytogenet Oncol Haematol. 2013-11-01
Online version: http://atlasgeneticsoncology.org/gene/53588/submit-meetings/gene-explorer/
