Gene table of CACNA1H : calcium voltage-gated channel subunit alpha1 H

Gene-disease associations table

Disease IDDisease nameSource of annotation with CACNA1HOMIM linkNumber of associated genesgenes
611942EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6ClinVar, OMIM, HUMSAVAR link to OMIM 1CACNA1H

Download the gene annotation in CSV format

Annotation of the gene CACNA1H

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Calcium signaling pathwayhsa040205.22
Circadian entrainmenthsa047136.11
MAPK signaling pathwayhsa040104.63
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
NCAM signaling for neurite out-growthR-HSA-3751654.9
Axon guidanceR-HSA-4224753.93
NCAM1 interactionsR-HSA-4190377.59
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
cation channel activityGO:00052614.04
calcium channel activityGO:00052625.03
low voltage-gated calcium channel activityGO:00083328.64
bindingGO:00054880.18
ion bindingGO:00431671.36
calcium ion transmembrane transporter activityGO:00150854.89
divalent inorganic cation transmembrane transporter activityGO:00725094.62
voltage-gated cation channel activityGO:00228434.83
passive transmembrane transporter activityGO:00228033.6
metal ion transmembrane transporter activityGO:00468733.71
metal ion bindingGO:00468721.41
cation bindingGO:00431691.4
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
substrate-specific transporter activityGO:00228922.72
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific channel activityGO:00228383.67
ion transmembrane transporter activityGO:00150753.04
voltage-gated channel activityGO:00228324.49
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
scaffold protein bindingGO:00971105.93
gated channel activityGO:00228363.96
protein bindingGO:00055150.46
voltage-gated calcium channel activityGO:00052456.0
voltage-gated ion channel activityGO:00052444.49