Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GRIK2
Previous Symbol	GLUR6
Symbol Alias	GluK2, MRT6
Approved Name	glutamate receptor, ionotropic, kainate 2
Location	6q16.3
Position	chr6:101398788-102070083, 1
External Links	HGNC: 4580 Entrez Gene: 2898 Ensembl: ENSG00000164418 UCSC: uc003pqp.4
No. of Studies	3 (Positive: 1; Negative: 1; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ament, S. A., 2015		P-value=0.011. No individual gene had a significant burden of segregating rare variants in BD pedigrees after correcting for multiple tests, although several genes had suggestive trends.	Positive	Comment on Study
McQuillin, A.,2011		Gene related CNV occurred in two or more cases but not in controls.	Trend	Comment on Study
Xu, W., 2014	SNP: rs2852571	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 GRIK2 (p=4.18Ã—10-5).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 39)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030165	PDZ domain binding	molecular function	IEA	16
GO:0015277	kainate selective glutamate receptor activity	molecular function	IDA[15537878]	4
GO:0005887	integral component of plasma membrane	cellular component	TAS[7536611]	158
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005234	extracellular-glutamate-gated ion channel activity	molecular function	IBA	12
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0045211	postsynaptic membrane	cellular component	IBA	68

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060079	regulation of excitatory postsynaptic membrane potential	biological process	IEA	10
GO:0042803	protein homodimerization activity	molecular function	IEA	71
GO:0030425	dendrite	cellular component	IBA	65
GO:0035249	synaptic transmission, glutamatergic	biological process	IBA	14
GO:0019228	neuronal action potential	biological process	IEA	11
GO:0048169	regulation of long-term neuronal synaptic plasticity	biological process	IEA	8
GO:0050804	regulation of synaptic transmission	biological process	IDA[15537878]	3
GO:0034220	ion transmembrane transport	biological process	IBA; IEA	50
GO:0043525	positive regulation of neuron apoptotic process	biological process	IEA	11
GO:0032839	dendrite cytoplasm	cellular component	IEA	2
GO:0051402	neuron apoptotic process	biological process	IEA	4
GO:0048172	regulation of short-term neuronal synaptic plasticity	biological process	IMP[15537878]	4
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0042734	presynaptic membrane	cellular component	IBA	16
GO:0050806	positive regulation of synaptic transmission	biological process	IMP[15537878]	4
GO:0006874	cellular calcium ion homeostasis	biological process	IEA	16
GO:0031624	ubiquitin conjugating enzyme binding	molecular function	IEA	2
GO:0043195	terminal bouton	cellular component	IEA	17
GO:0030054	cell junction	cellular component	IEA	88
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0046328	regulation of JNK cascade	biological process	IEA	2
GO:0043204	perikaryon	cellular component	IEA	17
GO:0006886	intracellular protein transport	biological process	IEA	10
GO:0031625	ubiquitin protein ligase binding	molecular function	IEA	25
GO:0007215	glutamate receptor signaling pathway	biological process	TAS[7536611]	7
GO:0051967	negative regulation of synaptic transmission, glutamatergic	biological process	IEA	5
GO:0035235	ionotropic glutamate receptor signaling pathway	biological process	IBA	13
GO:0006810	transport	biological process	NAS[7536611]	47
GO:0043113	receptor clustering	biological process	IEA	8
GO:0060080	regulation of inhibitory postsynaptic membrane potential	biological process	IEA	4
GO:0032983	kainate selective glutamate receptor complex	cellular component	IBA	4
GO:0014069	postsynaptic density	cellular component	IEA	26

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 14)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GRIK2	PICK1	YES	in vitro;in vivo;yeast 2-hybrid	12597860
GRIK2	CASK	NO	in vitro;in vivo	12151522
GRIK2	CTNND1	NO	in vitro;in vivo	12151522
GRIK2	CTNNB1	NO	in vitro;in vivo	12151522
GRIK2	GRID2	NO	in vivo	12573530
GRIK2	SDCBP	NO	in vitro;yeast 2-hybrid	12597860
GRIK2	DLG4	NO	in vitro;in vivo	11744724 , 12597860 , 11276111 , 9808460
GRIK2	PRKAA1	NO	in vivo	8094892 , 8163463
GRIK2	DLG3	YES	in vitro	12070168
GRIK2	GRIA1	YES	in vivo	10358037
GRIK2	LIN7B	NO	in vitro;in vivo	12151522
GRIK2	GRIK5	YES	in vivo	9466455
GRIK2	CDH2	NO	in vivo	12151522
GRIK2	GRIK4	YES	in vivo	12954862 , 8288598

Related other genetic factors

Gene related SNPs (count: 5)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2852571	chr6:101554216 - 101554216(1)	intron_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs2518311	chr6:101546061 - 101546061(1)	intron_variant
rs2749081	chr6:101536243 - 101536243(1)	intron_variant
rs2852577	chr6:101559352 - 101559352(1)	intron_variant
rs2749075	chr6:101548843 - 101548843(1)	intron_variant

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Sheng[2012]_4	chr6:101957419-102622143 (Affymetrix SNP 6.0 array reference genome)	664724	6q16.3-q21
CNV_McQuillin[2011]_11	chr6:101953625-102624651 (NCBI Build 36 (hg18))	671027

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6q16-q21	chr6:100000000-114200000	1 (0/0/1)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q16.3	chr6:100000000-105000000	1 (0/0/1)
6q14-22	chr6:75200000-130000000	1 (0/0/1)
6q16	chr6:92500000-105000000	2 (0/1/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
15305151	370	Positive
12467946	370	Negative

Gene relationship with MDD

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Region: chr6:101398788..102070083 View in gBrowse