Gene Report

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Basic Info

Approved Symbol	CACNG2
Symbol Alias	stargazin, MGC138502, MGC138504
Approved Name	calcium channel, voltage-dependent, gamma subunit 2
Location	22q13.1
Position	chr22:36563921-36703558, -1
External Links	HGNC: 1406 Entrez Gene: 10369 Ensembl: ENSG00000166862 UCSC: uc003aps.2
No. of Studies	3 (Positive: 3; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Jan, W. C., 2014	SNP: rs2284017, rs2284018, rs5750285 Haplotype: rs2284017 - rs2284018 - rs5750285(A-G-G)	Weak associations for CACNG2 (rs2284018) genes were observed.	Positive	Comment on Study
Ament, S. A., 2015		Regulatory P-value=0.00047, q-value=0.0041. The gene has significant rare variant associations to BD.	Positive	Comment on Study
Koefoed, P.,2011	SNP: rs2179871	CACNG2_rs2179871=2 occurred in 49 3-combinations.In 1000 permutation tests, at least one cluster of this type (with at least 37 pseudo-patients) were seen 42 times (p=0.042), two such clusters were seen 3 times (p=0.003), and at least three or more clusters of this type did not occur once(p<0.001).. The present analyses of the combinations of SNP genotypes support a role for both genetic heterogeneity and interactions in the genetic architecture of bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

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

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060081	membrane hyperpolarization	biological process	IEA	5
GO:0019226	transmission of nerve impulse	biological process	IEA	7
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0005515	protein binding	molecular function	IPI[20805473]	563
GO:0007528	neuromuscular junction development	biological process	IEA	8
GO:0032281	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex	cellular component	ISS	8
GO:2000311	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	biological process	ISS	4
GO:0006810	transport	biological process	TAS[10221464]	47
GO:0051899	membrane depolarization	biological process	TAS	9
GO:0030666	endocytic vesicle membrane	cellular component	TAS	8
GO:0035255	ionotropic glutamate receptor binding	molecular function	IEA	8

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: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CACNG2	DLG4	NO	in vitro;in vivo;yeast 2-hybrid	11805122 , 12359873
CACNG2	INADL	NO	in vitro	16637659
CACNG2	DLG3	YES	in vitro	16637659
CACNG2	PRKACA	NO	in vitro;in vivo	11805122
CACNG2	DLG2	YES	in vitro	16637659
CACNG2	GRIA4	NO	in vivo	11140673

Related other genetic factors

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2284017	chr22:36700882 - 36700882(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs5750285	chr22:36708203 - 36708203(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2179871	chr22:36695586 - 36695586(1)	intron_variant	1(1/0/0)
rs2284018	chr22:36701519 - 36701519(1)	intron_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs2267361	chr22:36704215 - 36704215(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2746971	chr22:36705845 - 36705845(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2284015	chr22:36700528 - 36700528(1)	intron_variant; upstream_gene_variant
rs2284016	chr22:36700749 - 36700749(1)	intron_variant; upstream_gene_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)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	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: chr22:36563921..36703558 View in gBrowse