Gene table of CACNA1D : calcium voltage-gated channel subunit alpha1 D

Gene-disease associations table

Disease IDDisease nameSource of annotation with CACNA1DOMIM linkNumber of associated genesgenes
614896SINOATRIAL NODE DYSFUNCTION AND DEAFNESSOMIM link to OMIM 1CACNA1D
615474PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIESClinVar, OMIM, HUMSAVAR link to OMIM 1CACNA1D

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Annotation of the gene CACNA1D

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
cGMP-PKG signaling pathwayhsa040225.32
Calcium signaling pathwayhsa040205.22
cAMP signaling pathwayhsa040245.05
Retrograde endocannabinoid signalinghsa047236.03
Cholinergic synapsehsa047255.88
Glutamatergic synapsehsa047245.84
GABAergic synapsehsa047276.24
Serotonergic synapsehsa047265.84
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Dopaminergic synapsehsa047285.69
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Dilated cardiomyopathyhsa054146.08
Oxytocin signaling pathwayhsa049215.4
Vascular smooth muscle contractionhsa042705.74
GnRH signaling pathwayhsa049126.18
Insulin secretionhsa049116.18
MAPK signaling pathwayhsa040104.63
Circadian entrainmenthsa047136.11
Type II diabetes mellitushsa049307.12
Carbohydrate digestion and absorptionhsa049737.28
Cardiac muscle contractionhsa042606.34
Amphetamine addictionhsa050316.62
Alzheimer's diseasehsa050105.34
Adrenergic signaling in cardiomyocyteshsa042615.44
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Regulation of insulin secretionR-HSA-4223566.66
Adrenaline,noradrenaline inhibits insulin secretionR-HSA-4000428.18
Integration of energy metabolismR-HSA-1636856.24
NCAM signaling for neurite out-growthR-HSA-3751654.9
NCAM1 interactionsR-HSA-4190377.59
MetabolismR-HSA-14307282.34
Axon guidanceR-HSA-4224753.93
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
high voltage-gated calcium channel activityGO:00083317.34
bindingGO:00054880.18
ion bindingGO:00431671.36
ankyrin bindingGO:00305066.74
calcium ion transmembrane transporter activityGO:00150854.89
voltage-gated calcium channel activity involved in cardiac muscle cell action potentialGO:00860078.13
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
alpha-actinin bindingGO:00513936.6
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
actinin bindingGO:00428056.3
voltage-gated calcium channel activity involved SA node cell action potentialGO:00860599.05
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific channel activityGO:00228383.67
cytoskeletal protein bindingGO:00080923.02
ion transmembrane transporter activityGO:00150753.04
voltage-gated channel activityGO:00228324.49
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
gated channel activityGO:00228363.96
protein bindingGO:00055150.46
voltage-gated calcium channel activityGO:00052456.0
voltage-gated ion channel activityGO:00052444.49