Gene Report

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Basic Info

Approved Symbol	GAD2
Symbol Alias	GAD65
Approved Name	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
Previous Name	glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)
Location	10p13-p11.2
Position	chr10:26216307-26304558, 1
External Links	HGNC: 4093 Entrez Gene: 2572 Ensembl: ENSG00000136750 UCSC: uc001isp.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs7074934	SNPs were identified with suggestive association at a number of other genes with plausible biological arguments for involvement in, and/or previous associations to BD, such as GAD2 (p=2.21Ã—10-5).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016595	glutamate binding	molecular function	IEA	6
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	50
GO:0031225	anchored component of membrane	cellular component	IEA	11
GO:0042734	presynaptic membrane	cellular component	IEA	16
GO:0004351	glutamate decarboxylase activity	molecular function	IEA	2
GO:0005515	protein binding	molecular function	IPI[10671565]	563
GO:0030424	axon	cellular component	IEA	39
GO:0042136	neurotransmitter biosynthetic process	biological process	IEA	10
GO:0007269	neurotransmitter secretion	biological process	TAS	15
GO:0006540	glutamate decarboxylation to succinate	biological process	IEA	2
GO:0030054	cell junction	cellular component	IEA	88
GO:0030672	synaptic vesicle membrane	cellular component	IEA	7
GO:0030170	pyridoxal phosphate binding	molecular function	IEA	5
GO:0000139	Golgi membrane	cellular component	IEA	36
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	cellular component	TAS	3
GO:0046982	protein heterodimerization activity	molecular function	IEA	42
GO:0005829	cytosol	cellular component	IEA	223
GO:0042493	response to drug	biological process	IEA	57

Gene related KEGG pathways (count: 6)

ID	Name	No. of Genes in BDgene
hsa00650	Butanoate metabolism	7
hsa04940	Type I diabetes mellitus	10
hsa00410	beta-Alanine metabolism	4
hsa00430	Taurine and hypotaurine metabolism	2
hsa00251	Glutamate metabolism	5
hsa00252	Alanine and aspartate metabolism	5

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GAD2	PRKCE	YES	in vitro	15147202
GAD2	GAD1	YES	in vivo	7836456
GAD2	F10	NO	in vitro;in vivo	14576464

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7074934	chr10:26242741 - 26242741(1)	intron_variant	1(0/1/0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Sheng[2012]_2	chr10:26552050-26618469 (Affymetrix SNP 6.0 array reference genome)	66419	10p11.23

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

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
19229853	The associated SNPs lie within a 16KB linkage disequilibrium-block, including putative 5' GAD2-promoter-elements as well as the 3' end of the gene MYO3A.	Pos	GAD2

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Region: chr10:26216307..26304558 View in gBrowse