Gene table of GRIK2 : glutamate ionotropic receptor kainate type subunit 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GRIK2	OMIM link	Number of associated genes	genes
PS249500	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	31	ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L

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Annotation of the gene GRIK2

Associated genes in ENSEMBL

ENSG00000164418

Associated proteins - SwissProt Accession ID

Q13002

Associated PDB IDs

Cytogenetic Band

6q16.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Neuroactive ligand-receptor interaction	hsa04080	4.58
Glutamatergic synapse	hsa04724	5.84

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Activation of Ca-permeable Kainate Receptor	R-HSA-451308	9.66
Activation of Kainate Receptors upon glutamate binding	R-HSA-451326	8.08
Activation of Na-permeable Kainate Receptors	R-HSA-451307	11.98
Ionotropic activity of Kainate Receptors	R-HSA-451306	9.66
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
glutamate receptor activity	GO:0008066	6.44
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
ionotropic glutamate receptor activity	GO:0004970	6.79
kainate selective glutamate receptor activity	GO:0015277	8.13
ligand-gated ion channel activity	GO:0015276	4.8
transmembrane transporter activity	GO:0022857	2.82
PDZ domain binding	GO:0030165	5.22
transmitter-gated ion channel activity	GO:0022824	6.41
passive transmembrane transporter activity	GO:0022803	3.6
extracellular ligand-gated ion channel activity	GO:0005230	5.42
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
neurotransmitter receptor activity	GO:0030594	5.5
ubiquitin-like protein conjugating enzyme binding	GO:0044390	6.21
transmitter-gated channel activity	GO:0022835	6.41
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
excitatory extracellular ligand-gated ion channel activity	GO:0005231	5.73
extracellular-glutamate-gated ion channel activity	GO:0005234	6.74
substrate-specific transporter activity	GO:0022892	2.72
protein domain specific binding	GO:0019904	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
ubiquitin conjugating enzyme binding	GO:0031624	6.3
ubiquitin protein ligase binding	GO:0031625	4.17
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
protein dimerization activity	GO:0046983	2.72
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
binding	GO:0005488	0.18