Gene Report

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Basic Info

Approved Symbol	CACNA1B
Previous Symbol	CACNL1A5
Symbol Alias	Cav2.2, CACNN
Approved Name	calcium channel, voltage-dependent, N type, alpha 1B subunit
Location	9q34
Position	chr9:137877789-138124624, 1
External Links	HGNC: 1389 Entrez Gene: 774 Ensembl: ENSG00000148408 UCSC: uc004cog.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ament, S. A., 2015		Regulatory P-value=0.00043, q-value=0.0041. The gene has significant rare variant associations to BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0007268	synaptic transmission	biological process	IBA; TAS	116
GO:0005891	voltage-gated calcium channel complex	cellular component	IEA	13
GO:0005886	plasma membrane	cellular component	IBA; TAS	360
GO:0005245	voltage-gated calcium channel activity	molecular function	TAS[1321501]	14

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[11438518]	563
GO:0048265	response to pain	biological process	IEA	8
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0070509	calcium ion import	biological process	IBA	7
GO:0030425	dendrite	cellular component	IEA	65
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0034765	regulation of ion transmembrane transport	biological process	IEA	16
GO:0051924	regulation of calcium ion transport	biological process	IEA	8
GO:0005524	ATP binding	molecular function	IEA	118
GO:0008016	regulation of heart contraction	biological process	IEA	5
GO:0007269	neurotransmitter secretion	biological process	IEA	15
GO:0051899	membrane depolarization	biological process	TAS	9
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0086010	membrane depolarization during action potential	biological process	IBA	9
GO:0008331	high voltage-gated calcium channel activity	molecular function	IBA	7
GO:0006810	transport	biological process	TAS[1321501]	47
GO:0008022	protein C-terminus binding	molecular function	IPI[15728831]	21
GO:0008217	regulation of blood pressure	biological process	IEA	12

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53
hsa04010	MAPK signaling pathway	39

ID	Name	No. of Genes in BDgene	Brief Description
hsa04742	Taste transduction	7
hsa04930	Type II diabetes mellitus	11

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CACNA1B	PPM1A	YES	in vitro;in vivo	15728831
CACNA1B	APBA1	NO	in vivo;yeast 2-hybrid	12177192 , 10455105
CACNA1B	RIMS1	NO	in vitro	11438518
CACNA1B	RGS12	YES	in vivo	11130074
CACNA1B	GNAO1	NO	in vitro	11395521
CACNA1B	GNB1	NO	yeast 2-hybrid	15953418

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q33.3-34.3	chr9:123100000-138394717	1 (0/1/0)
9q34	chr9:127500000-138394717	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr9:137877789..138124624 View in gBrowse