Gene
cacna1fa
- ID
- ZDB-GENE-091204-7
- Name
- calcium channel, voltage-dependent, L type, alpha 1F subunit a
- Symbol
- cacna1fa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have high voltage-gated calcium channel activity. Involved in synapse organization. Predicted to localize to voltage-gated calcium channel complex. Used to study congenital stationary night blindness. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Is expressed in heart; photoreceptor cell; and retina. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Aland Island eye disease | Alliance | Aland Island eye disease | 300600 |
| congenital stationary night blindness 2A | Alliance | Night blindness, congenital stationary (incomplete), 2A, X-linked | 300071 |
| X-linked cone-rod dystrophy 3 | Alliance | Cone-rod dystrophy, X-linked, 3 | 300476 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| congenital stationary night blindness | cacna1fas315/s315 (TL) | standard conditions | Jia et al., 2014 |
| congenital stationary night blindness | cacna1fas129/s129 (TL) | standard conditions | Jia et al., 2014 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1fa-201
(1)
|
Ensembl | 1,977 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cacna1fa | polyclonal | Rabbit |
|
5 |
Plasmids
No data available