Gene Report

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Basic Info

Approved Symbol	CACNB3
Previous Symbol	CACNLB3
Approved Name	calcium channel, voltage-dependent, beta 3 subunit
Location	12q13
Position	chr12:48813794-48828941, 1
External Links	HGNC: 1403 Entrez Gene: 784 Ensembl: ENSG00000167535 UCSC: uc010sly.2
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
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
Sklar, P.,2011	SNP: rs11168751	Suggestive association was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[16525042]	137
GO:0006816	calcium ion transport	biological process	IDA[11160515]	14
GO:0005245	voltage-gated calcium channel activity	molecular function	IDA[11160515]	14
GO:0007268	synaptic transmission	biological process	IBA; TAS	116
GO:0007411	axon guidance	biological process	TAS	60
GO:0005891	voltage-gated calcium channel complex	cellular component	IDA[11160515]	13

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0050852	T cell receptor signaling pathway	biological process	IEA	9
GO:0019901	protein kinase binding	molecular function	IEA	29
GO:0008331	high voltage-gated calcium channel activity	molecular function	IBA	7
GO:0051899	membrane depolarization	biological process	TAS	9
GO:0007528	neuromuscular junction development	biological process	IBA	8
GO:0005829	cytosol	cellular component	TAS	223
GO:0006810	transport	biological process	TAS[8119293]	47
GO:1901385	regulation of voltage-gated calcium channel activity	biological process	IBA	2

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
CACNB3	CACNA1B	YES	in vitro	12161429
CACNB3	SYT1	NO	yeast 2-hybrid	16525042

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2070615	chr12:48824388 - 48824388(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)
rs11168751	chr12:48825355 - 48825355(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:48813794..48828941 View in gBrowse