Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:SCA6
Cav2.1 EA2 FHM1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
CACNA1B
CACNA1C CACNA1E Cav2.2 Cav2.3 episodic ataxia type 2 familial hemiplegic migraine spinocerebellar ataxia type 6 |
| gptkbp:biologicalProcess |
synaptic transmission
regulation of neurotransmitter release voltage-gated calcium channel activity |
| gptkbp:cellularComponent |
gptkb:plasma_membrane
|
| gptkbp:clinicalTrialPhase |
yes
|
| gptkbp:discoveredBy |
genetic linkage studies
|
| gptkbp:encodes |
voltage-dependent P/Q-type calcium channel subunit alpha-1A
|
| gptkbp:Entrez_Gene_ID |
773
ENSG00000141837 |
| gptkbp:expressedIn |
brain
|
| gptkbp:firstDescribed |
1996
|
| gptkbp:foundIn |
gptkb:Mus_musculus
gptkb:Homo_sapiens gptkb:Rattus_norvegicus |
| gptkbp:function |
mediates calcium ion influx in neurons
|
| gptkbp:HGNC_ID |
1390
|
| https://www.w3.org/2000/01/rdf-schema#label |
CACNA1A
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:length |
47 exons
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
19p13 |
| gptkbp:mutationAssociatedWith |
nonsense
missense neurological disorders trinucleotide repeat expansion |
| gptkbp:OMIM |
601011
|
| gptkbp:orthologInMouse |
Cacna1a
|
| gptkbp:pathway |
calcium signaling pathway
neurotransmitter release cycle |
| gptkbp:product |
Cav2.1
|
| gptkbp:proteinFamily |
voltage-gated calcium channels
|
| gptkbp:RefSeq |
NM_001127221
|
| gptkbp:relatedTo |
calcium channel family
|
| gptkbp:UniProtID |
O00555
|
| gptkbp:bfsParent |
gptkb:Hemiplegic_migraine
|
| gptkbp:bfsLayer |
7
|