Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2898
Gene name	Glutamate ionotropic receptor kainate type subunit 2
Gene symbol	GRIK2
Synonyms (NCBI Gene)	EAA4GLR6GLUK6GLUR6GluK2MRT6NEDLAS
Chromosome	6
Chromosome location	6q16.3
Summary	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are com

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749995448	C>A,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs1265340906	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029019	hsa-miR-26b-5p	Microarray	19088304
MIRT1034228	hsa-miR-101	CLIP-seq
MIRT1034229	hsa-miR-1206	CLIP-seq
MIRT1034230	hsa-miR-144	CLIP-seq
MIRT1034231	hsa-miR-214	CLIP-seq
MIRT1034232	hsa-miR-3120-3p	CLIP-seq
MIRT1034233	hsa-miR-3619-5p	CLIP-seq
MIRT1034234	hsa-miR-3647-3p	CLIP-seq
MIRT1034235	hsa-miR-4753-3p	CLIP-seq
MIRT1034236	hsa-miR-4768-5p	CLIP-seq
MIRT1034237	hsa-miR-567	CLIP-seq
MIRT1034238	hsa-miR-582-5p	CLIP-seq
MIRT1034239	hsa-miR-761	CLIP-seq
MIRT1034240	hsa-miR-873	CLIP-seq
MIRT2006751	hsa-miR-153	CLIP-seq
MIRT2006752	hsa-miR-2052	CLIP-seq
MIRT1034232	hsa-miR-3120-3p	CLIP-seq
MIRT2006753	hsa-miR-33a	CLIP-seq
MIRT2006754	hsa-miR-33b	CLIP-seq
MIRT2006755	hsa-miR-3692	CLIP-seq
MIRT2006756	hsa-miR-4320	CLIP-seq
MIRT2006757	hsa-miR-448	CLIP-seq
MIRT2006758	hsa-miR-4496	CLIP-seq
MIRT2006759	hsa-miR-450b-5p	CLIP-seq
MIRT2006760	hsa-miR-507	CLIP-seq
MIRT2006761	hsa-miR-543	CLIP-seq
MIRT2006762	hsa-miR-545	CLIP-seq
MIRT2006763	hsa-miR-548g	CLIP-seq
MIRT2006764	hsa-miR-557	CLIP-seq
MIRT2239156	hsa-miR-34b	CLIP-seq
MIRT2239157	hsa-miR-4420	CLIP-seq
MIRT2239158	hsa-miR-4724-5p	CLIP-seq
MIRT2239159	hsa-miR-4760-3p	CLIP-seq
MIRT2239160	hsa-miR-548ae	CLIP-seq
MIRT2239161	hsa-miR-548aj	CLIP-seq
MIRT2239162	hsa-miR-548am	CLIP-seq
MIRT2239163	hsa-miR-548x	CLIP-seq
MIRT2388759	hsa-miR-323-5p	CLIP-seq
MIRT2388760	hsa-miR-876-3p	CLIP-seq

Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0004970	Function	Glutamate-gated receptor activity	IDA	7536611, 8730589, 14511640
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004970	Function	Glutamate-gated receptor activity	IMP	34375587
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005234	Function	Extracellularly glutamate-gated ion channel activity	IMP	28180184
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	14511640
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	34375587
GO:0005886	Component	Plasma membrane	TAS	7536611
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	7536611
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7536611
GO:0008066	Function	Glutamate receptor activity	IEA
GO:0008328	Component	Ionotropic glutamate receptor complex	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015277	Function	Kainate selective glutamate receptor activity	IBA
GO:0015277	Function	Kainate selective glutamate receptor activity	IDA	15537878
GO:0015277	Function	Kainate selective glutamate receptor activity	IEA
GO:0015277	Function	Kainate selective glutamate receptor activity	TAS	7536611
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0032983	Component	Kainate selective glutamate receptor complex	IBA
GO:0032983	Component	Kainate selective glutamate receptor complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046328	Process	Regulation of JNK cascade	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	IEA
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	IMP	15537878
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	15537878
GO:0050806	Process	Positive regulation of synaptic transmission	IMP	15537878
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	IEA
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097471	Component	Mossy fiber rosette	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098815	Process	Modulation of excitatory postsynaptic potential	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA
GO:0120169	Process	Detection of cold stimulus involved in thermoception	IEA
GO:0120169	Process	Detection of cold stimulus involved in thermoception	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
138244	4580	ENSG00000164418

Q13002

Protein name

Glutamate receptor ionotropic, kainate 2 (GluK2) (Excitatory amino acid receptor 4) (EAA4) (Glutamate receptor 6) (GluR-6) (GluR6)

Protein function

Ionotropic glutamate receptor that functions as a cation permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervo

PDB

3QXM , 5CMM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	52 → 398	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	431 → 546	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	560 → 831	Ligand-gated ion channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expression is higher in cerebellum than in cerebral cortex. {ECO:0000269|PubMed:20230879}.

Sequence

MKIIFPILSNPVFRRTVKLLLCLLWIGYSQGTTHVLRFGGIFEYVESGPMGAEELAFRFA
VNTINRNRTLLPNTTLTYDTQKINLYDSFEASKKACDQLSLGVAAIFGPSHSSSANAVQS
ICNALGVPHIQTRWKHQVSDNKDSFYVSLYPDFSSLSRAILDLVQFFKWKTVTVVYDDST
GLIRLQELIKAPSRYNLRLKIRQLPADTKDAKPLLKEMKRGKEFHVIFDCSHEMAAGILK
QALAMGMMTEYYHYIFTTLDLFALDVEPYRYSGVNMTGFRILNTENTQVSSIIEKWSMER
LQAPPKPDSGLLDGFMTTDAALMYDAVHVVSVAVQQFPQMTVSSLQCNRHKPWRFGTRFM
SLIKEAHWEGLTGRITFNKTNGLRTDFDLDVISLKEEGLEKIGTWDPASGLNMTESQKGK
PANITDSLSNRSLIVTTILEEPYVLFKKSDKPLYGNDRFEGYCIDLLRELSTILGFTYEI
RLVEDGKYGAQDDANGQWNGMVRELIDHKADLAVAPLAITYVREKVIDFSKPFMTLGISI
LYRKPNGTNPGVFSFLNPLSPDIWMYILLAYLGVSCVLFVIARFSPYEWYNPHPCNPDSD
VVENNFTLLNSFWFGVGALMQQGSELMPKALSTRIVGGIWWFFTLIIISSYTANLAAFLT
VERMESPIDSADDLAKQTKIEYGAVEDGATMTFFKKSKISTYDKMWAFMSSRRQSVLVKS
NEEGIQRVLTSDYAFLMESTTIEFVTQRNCNLTQIGGLIDSKGYGVGTPMGSPYRDKITI
AILQLQEEGKLHMMKEKWWRGNGCPEEESKEASALGVQNIGGIFIVLAAGLVLSVFVAVG
EFLYKSKKNAQLEKRSFCSAMVEELRMSLKCQRRLKHKPQAPVIVKTEEVINMHTFNDRR
LPGKETMA

Sequence length

908

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Glutamatergic synapse		Activation of Na-permeable kainate receptors Activation of Ca-permeable Kainate Receptor

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autistic behavior	Likely pathogenic	rs2128471643	RCV001568409
Gait ataxia	Pathogenic	rs1790057505	RCV001568406
GRIK2-related neurodevelopmental disorder	Pathogenic	rs1790058081	RCV001089950
Hyperintensity of cerebral white matter on MRI	Pathogenic	rs1790058081	RCV001568408
Intellectual disability	Pathogenic; Likely pathogenic	rs1790058081, rs1265340906, rs1790057505	RCV001568408 RCV000790433 RCV001568406
Intellectual disability, autosomal recessive 6	Pathogenic	rs749995448	RCV000169686
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Pathogenic; Likely pathogenic	rs1790058081, rs2483041289, rs2484177690, rs1790057505	RCV001751791 RCV003333433 RCV003990011 RCV001759860 RCV001751535
Severe global developmental delay	Pathogenic	rs1790058081, rs1790057505	RCV001568408 RCV001568406

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs180799513	RCV005888098
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs2243352	RCV005868073
Developmental disorder	Likely benign	rs780355549	RCV003128054
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1789772602	RCV004560300
Familial cancer of breast	Benign; Likely benign	rs2243352	RCV005868071
Gastric cancer	Uncertain significance	rs61996330	RCV005899866
GRIK2-related disorder	Uncertain significance; Likely benign	rs767297777, rs376814973, rs2484646160, rs2484054503, rs2484055511, rs201788540, rs2484054646, rs1259163258, rs1771418940, rs61996330	RCV004753662 RCV004753676 RCV003419003 RCV003399923 RCV003404389 RCV003980936 RCV003899391 RCV003954719 RCV003967126 RCV003942635
Lip and oral cavity carcinoma	association	rs1335022	RCV000239410
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	rs61996330	RCV005899865
Melanoma	Uncertain significance	rs1780442929	RCV005927458
Ovarian cancer	Benign	rs180799513	RCV005888099
See cases	Uncertain significance	rs2128470350, rs1377404652, rs914040945	RCV002253137 RCV002287794 RCV003128481
Uterine carcinosarcoma	Benign; Likely benign; Uncertain significance	rs2243352, rs61996330	RCV005868072 RCV005899867

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	22143938, 30705370
Adenocarcinoma of Lung	Associate	34902990
Alcohol Related Disorders	Associate	25351778
Asthma	Associate	24311777
Autism Spectrum Disorder	Associate	21996756, 22543975, 36340933
Autistic Disorder	Associate	11920157, 20442744, 31844109
Bipolar Disorder	Associate	31631587
Breast Neoplasms	Associate	30705370
Carcinoma Hepatocellular	Associate	30705370
Carcinoma Non Small Cell Lung	Associate	30705370
Cerebral Palsy	Associate	34580524
Cognition Disorders	Associate	30498132, 33154391
Colorectal Neoplasms	Associate	30705370
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34375587
Death	Associate	25238935
Demyelinating Diseases	Associate	34375587
Depressive Disorder	Associate	34341332
Developmental Disabilities	Associate	34375587
Disease	Associate	31844109
Encephalitis	Associate	28935853
Epilepsy	Associate	34375587
Esophagitis	Associate	32132452
Fatigue Syndrome Chronic	Inhibit	21912186
Fatigue Syndrome Chronic	Associate	21912186
Fever	Associate	28935853
Glioblastoma	Associate	30705370
Glioma	Associate	33969375
Hemimegalencephaly	Associate	15571509
Heredodegenerative Disorders Nervous System	Associate	32161119
Huntington Disease	Associate	16959037, 17018562, 26148071, 9108071
Inflammation	Associate	33154391
Intellectual Disability	Associate	17847003, 31844109, 34375587
Mental Retardation Autosomal Recessive 4	Associate	17847003, 21557188, 34580524
Mental Retardation X Linked Nonsyndromic	Associate	17847003, 18452889, 34375587
Muscle Hypotonia	Associate	19295509
Neoplasms	Associate	30587499, 30705370, 35328043
Neurologic Manifestations	Associate	34375587
Obsessive Compulsive Disorder	Associate	20370803
Ovarian Neoplasms	Associate	30587499, 30705370
Parkinson Disease	Associate	31823283
Personality Disorders	Associate	31631587
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	20065082
Prostatic Neoplasms	Associate	25238935, 34417538
Psychological Trauma	Associate	34580524
Pulmonary Disease Chronic Obstructive	Associate	29527240
Retrograde Degeneration	Associate	17924980
Schizophrenia	Associate	31844109
Sex Chromosome Aberrations	Associate	28771244

GRIK2 (glutamate ionotropic receptor kainate type subunit 2)