Gene table of CACNA1B : calcium voltage-gated channel subunit alpha1 B

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CACNA1B	OMIM link	Number of associated genes	genes
PS128100	DYSTONIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	18	DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A

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Annotation of the gene CACNA1B

Associated genes in ENSEMBL

ENSG00000148408

Associated proteins - SwissProt Accession ID

Q00975

Associated PDB IDs

2lcm

Cytogenetic Band

9q34.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Morphine addiction	hsa05032	6.15
Calcium signaling pathway	hsa04020	5.22
MAPK signaling pathway	hsa04010	4.63
Synaptic vesicle cycle	hsa04721	6.74
Nicotine addiction	hsa05033	7.38
Retrograde endocannabinoid signaling	hsa04723	6.03
Cholinergic synapse	hsa04725	5.88
Taste transduction	hsa04742	6.99
GABAergic synapse	hsa04727	6.24
Serotonergic synapse	hsa04726	5.84
Dopaminergic synapse	hsa04728	5.69
Type II diabetes mellitus	hsa04930	7.12

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Neuronal System	R-HSA-112316	4.82
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels	R-HSA-112308	9.28
Transmission across Chemical Synapses	R-HSA-112315	5.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
substrate-specific channel activity	GO:0022838	3.67
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
purine ribonucleoside triphosphate binding	GO:0035639	2.22
high voltage-gated calcium channel activity	GO:0008331	7.34
binding	GO:0005488	0.18
purine nucleoside binding	GO:0001883	2.22
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
calcium ion transmembrane transporter activity	GO:0015085	4.89
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
voltage-gated cation channel activity	GO:0022843	4.83
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
small molecule binding	GO:0036094	1.89
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
voltage-gated calcium channel activity	GO:0005245	6.0
voltage-gated ion channel activity	GO:0005244	4.49
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19