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	DLG2	YES	in vitro	16637659
CACNG2	GRIA4	NO	in vivo	11140673
CACNG2	DLG3	YES	in vitro	16637659
CACNG2	DLG4	NO	in vitro;in vivo;yeast 2-hybrid	11805122 , 12359873
CACNG2	PRKACA	NO	in vitro;in vivo	11805122
CACNG2	INADL	NO	in vitro	16637659

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