Gene Report

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Basic Info

Approved Symbol	CACNB2
Previous Symbol	MYSB, CACNLB2
Approved Name	calcium channel, voltage-dependent, beta 2 subunit
Location	10p12
Position	chr10:18140677-18541869, 1
External Links	HGNC: 1402 Entrez Gene: 783 Ensembl: ENSG00000165995 UCSC: uc001ipr.2
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cross-Disorder Group of the Psychiatric Genomics Consortium,2013	SNP: rs2799573	Significant association was observed in cross-disorder analysis.	Positive	Comment on Study
Lee, M. T.,2011	SNP: rs11013860	No significant associations were detected in BPI patients.	Negative	Comment on Study
Jan, W. C., 2014	SNP: rs11013860	Weak associations for CACNB2 (rs11013860) genes were observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005262	calcium channel activity	molecular function	NAS[9594024]	9
GO:0007411	axon guidance	biological process	TAS	60
GO:0007268	synaptic transmission	biological process	IBA	116
GO:0005245	voltage-gated calcium channel activity	molecular function	IDA[1309651]	14
GO:0005887	integral component of plasma membrane	cellular component	NAS[9594024]	158
GO:0005891	voltage-gated calcium channel complex	cellular component	IDA[1309651]	13

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0008331	high voltage-gated calcium channel activity	molecular function	IDA[1309651]	7
GO:0007601	visual perception	biological process	IEA	15
GO:1901385	regulation of voltage-gated calcium channel activity	biological process	IBA	2
GO:0005515	protein binding	molecular function	IPI[17525370]	563
GO:0006810	transport	biological process	TAS[8494331]	47
GO:0070509	calcium ion import	biological process	IDA[1309651]	7
GO:0007528	neuromuscular junction development	biological process	TAS[8494331]	8
GO:0051928	positive regulation of calcium ion transport	biological process	IDA[1309651]	9
GO:0042383	sarcolemma	cellular component	IEA	12

Gene related KEGG pathways (count: 1)

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

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CACNB2	REM1	NO	in vivo	14623965
CACNB2	PRKACA	NO	in vitro	10441130 , 10567342

Related other genetic factors

Gene related SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2799573	chr10:18312999 - 18312999(1)	intron_variant	1(1/0/0)
rs7083127	chr10:18342516 - 18342516(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs11013860	chr10:18365098 - 18365098(1)	intron_variant; non_coding_transcript_variant	2(1/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs7907743		chr10:18364263 - 18364263(1)	intron_variant; non_coding_transcript_variant

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)
10p11-p14	chr10:6600000-39800000	1 (0/1/0)
Chr 10	chr10:0-133797422	3 (0/2/1)
10p12	chr10:17300000-29300000	3 (0/1/2)

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

Gene relationship with SZ

Reference	Description	Result Category
23453885	Significant association was observed in cross-disorder analysis.	Positive

Gene relationship with MDD

Reference	Description	Category in MDD
23453885	Significant association was observed in cross-disorder analysis.	Positive

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Region: chr10:18140677..18541869 View in gBrowse