Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,Cav1.4alpha1,JM8,JMC8,OA2
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: 778
MIM: 300110
HGNC: 1393
Ensembl: ENSG00000102001
Variants:
dbSNP: 778
ClinVar: 778
TCGA: ENSG00000102001
COSMIC: CACNA1F
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102001 | ENST00000323022 | O60840 |
| ENSG00000102001 | ENST00000376251 | O60840 |
| ENSG00000102001 | ENST00000376265 | O60840 |
| ENSG00000102001 | ENST00000486943 | H7C549 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 | ||
| PA451846 | valproic acid | Chemical | Pathway | associated | 23407051 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36469668 | 2023 | Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. | 0 |
| 36469668 | 2023 | Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. | 0 |
| 35065730 | 2022 | Strikingly High Myopia in Aland Island Eye Disease. | 0 |
| 35697328 | 2022 | Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness. | 4 |
| 36165086 | 2022 | Identification of a novel CACNA1F mutation in a Chinese family with CORDX3. | 2 |
| 36191840 | 2022 | Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. | 1 |
| 35065730 | 2022 | Strikingly High Myopia in Aland Island Eye Disease. | 0 |
| 35697328 | 2022 | Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness. | 4 |
| 36165086 | 2022 | Identification of a novel CACNA1F mutation in a Chinese family with CORDX3. | 2 |
| 36191840 | 2022 | Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. | 1 |
| 33513752 | 2021 | A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. | 7 |
| 33668843 | 2021 | Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness. | 2 |
| 33513752 | 2021 | A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. | 7 |
| 33668843 | 2021 | Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness. | 2 |
| 33037074 | 2020 | Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca(v)1.4 Ca(2+) channels. | 5 |
Citation
Dessen P
CACNA1F (calcium voltage-gated channel subunit alpha1 F)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56376/tumors-explorer/teaching-explorer/
