Gene
cacna1aa
- ID
- ZDB-GENE-040724-26
- Name
- calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
- Symbol
- cacna1aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated calcium channel activity. Predicted to be involved in calcium ion import and chemical synaptic transmission. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Is expressed in heart and nervous system. Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1553 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Gawel et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 42 | Alliance | Developmental and epileptic encephalopathy 42 | 617106 |
episodic ataxia type 2 | Alliance | Episodic ataxia, type 2 | 108500 |
familial hemiplegic migraine 1 | Alliance | Migraine, familial hemiplegic, 1 | 141500 |
familial hemiplegic migraine 1 | Alliance | Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia | 141500 |
spinocerebellar ataxia type 6 | Alliance | Spinocerebellar ataxia 6 | 183086 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
absence epilepsy | AB + MO1-cacna1aa + MO2-cacna1aa | standard conditions | Gawel et al., 2019 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M3AR05
|
2318 |
UniProtKB:A0A8M9PFW8
|
2344 |
UniProtKB:A0A8M9PYT6
|
2367 |
UniProtKB:A0A8M3AY50
|
2293 |
UniProtKB:A0A8M9Q9V1
|
1615 |
UniProtKB:A0A8M9PFV0
|
2333 |
UniProtKB:A0A8M9PYS3
|
2370 |
UniProtKB:A0A8M9PSR1
|
2368 |
UniProtKB:A0A8M9PSW2
|
2165 |
UniProtKB:A0A8M9PSS9
|
2362 |
UniProtKB:A0A8M9Q509
|
2370 |
UniProtKB:A0A8M9Q9Q4
|
2368 |
UniProtKB:A0A8M9PFQ8
|
2371 |
UniProtKB:A0A8M3B8D7
|
2357 |
UniProtKB:A0A8M9Q9T2
|
2354 |
UniProtKB:A0A8M9PSR6
|
2367 |
UniProtKB:A0A8M9PSV7
|
2319 |
UniProtKB:A0A8M9PYU4
|
2363 |
UniProtKB:A0A8M3B129
|
2310 |
UniProtKB:A0A8M9PSU9
|
2332 |
UniProtKB:A0A8M9Q515
|
2370 |
UniProtKB:A0A8M6Z5Q8
|
2356 |
UniProtKB:A0A8M9Q9N8
|
2371 |
UniProtKB:A0A8M2BBB9
|
1740 |
UniProtKB:A0A8M9PFV9
|
2307 |
UniProtKB:A0A8M9PSS2
|
2366 |
UniProtKB:A0A8M9PFU0
|
2362 |
UniProtKB:A0A8M9Q554
|
2344 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
cacna1aa-202
(1)
|
5851 nt | |
mRNA |
cacna1aa-203
(1)
|
5848 nt |
Interactions and Pathways
No data available
Plasmids
No data available