Identity
HGNC
LOCATION
22q13.1
LOCUSID
ALIAS
Cav3.3,ca(v)3.3
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: 8911
MIM: 608230
HGNC: 1396
Ensembl: ENSG00000100346
Variants:
dbSNP: 8911
ClinVar: 8911
TCGA: ENSG00000100346
COSMIC: CACNA1I
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100346 | ENST00000401624 | Q9P0X4 |
| ENSG00000100346 | ENST00000402142 | Q9P0X4 |
| ENSG00000100346 | ENST00000404898 | Q9P0X4 |
| ENSG00000100346 | ENST00000407673 | Q9P0X4 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38763272 | 2024 | G protein β subunits regulate Ca(v)3.3 T-type channel activity and current kinetics via interaction with the Ca(v)3.3 C-terminus. | 0 |
| 38763272 | 2024 | G protein β subunits regulate Ca(v)3.3 T-type channel activity and current kinetics via interaction with the Ca(v)3.3 C-terminus. | 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 |
| 34919654 | 2022 | Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. | 11 |
| 34919654 | 2022 | Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. | 11 |
| 30718321 | 2019 | Genome-Wide Association Studies of Impulsive Personality Traits (BIS-11 and UPPS-P) and Drug Experimentation in up to 22,861 Adult Research Participants Identify Loci in the CACNA1I and CADM2 genes. | 70 |
| 30718321 | 2019 | Genome-Wide Association Studies of Impulsive Personality Traits (BIS-11 and UPPS-P) and Drug Experimentation in up to 22,861 Adult Research Participants Identify Loci in the CACNA1I and CADM2 genes. | 70 |
| 28725167 | 2018 | Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population. | 8 |
| 29308060 | 2018 | Further evidence for the genetic association between CACNA1I and schizophrenia. | 9 |
| 29474447 | 2018 | Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels. | 2 |
| 28725167 | 2018 | Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population. | 8 |
| 29308060 | 2018 | Further evidence for the genetic association between CACNA1I and schizophrenia. | 9 |
| 29474447 | 2018 | Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels. | 2 |
| 28165634 | 2017 | Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. | 21 |
Citation
Dessen P
CACNA1I (calcium voltage-gated channel subunit alpha1 I)
Atlas Genet Cytogenet Oncol Haematol. 2015-10-01
Online version: http://atlasgeneticsoncology.org/gene/55452/cacna1i-(calcium-voltage-gated-channel-subunit-alpha1-i)
