GRIK4 (glutamate ionotropic receptor kainate type subunit 4)

Gene

• Entrez ID: 2900
• Gene name: Glutamate ionotropic receptor kainate type subunit 4
• Gene symbol: GRIK4
• Synonyms (NCBI Gene): EAA1, GRIK, GluK4, GluK4-2, KA1
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1954787	T>C	Benign, drug-response	Intron variant, genic upstream transcript variant
rs869312699	CTGGCGCAGGAGGCC>GCT	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017088	hsa-miR-335-5p	Microarray	18185580
MIRT048273	hsa-miR-196a-5p	CLASH	23622248
MIRT625181	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT625180	hsa-miR-4511	HITS-CLIP	23824327
MIRT625179	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT625177	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625174	hsa-miR-3686	HITS-CLIP	23824327
MIRT625173	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT625172	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT625189	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT625188	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT625187	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT625186	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT625185	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT625184	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT625183	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT625182	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT625178	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625175	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT625189	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT625188	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT625187	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT625186	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT625185	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT625184	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT625183	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT625182	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT625178	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625175	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT625189	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT625188	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT625187	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT625186	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT625185	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT625184	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT625183	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT625182	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT625181	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT625180	hsa-miR-4511	HITS-CLIP	23824327
MIRT625179	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT625178	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625177	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625175	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT625174	hsa-miR-3686	HITS-CLIP	23824327
MIRT625173	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT625172	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT625181	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT625180	hsa-miR-4511	HITS-CLIP	23824327
MIRT625179	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT625177	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625174	hsa-miR-3686	HITS-CLIP	23824327
MIRT625173	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT625172	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT625189	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT625188	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT625187	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT625186	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT625185	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT625184	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT625183	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT625182	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT625178	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625175	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT625189	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT625188	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT625187	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT625186	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT625185	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT625184	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT625183	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT625182	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT625178	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625175	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT625189	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT625188	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT625187	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT625186	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT625185	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT625184	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT625183	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT625182	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT625181	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT625180	hsa-miR-4511	HITS-CLIP	23824327
MIRT625179	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT625178	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625177	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT625176	hsa-miR-4775	HITS-CLIP	23824327
MIRT625175	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT625174	hsa-miR-3686	HITS-CLIP	23824327
MIRT625173	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT625172	hsa-miR-4652-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8263508
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	8263508
GO:0007268	Process	Chemical synaptic transmission	TAS	8263508
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	TAS	8263508
GO:0016020	Component	Membrane	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:0038023	Function	Signaling receptor activity	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
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	IDA	20026616
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	20026616
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	20026616
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA

Other IDs

• MIM: 600282
• HGNC: 4582
• e!Ensembl: ENSG00000149403

Protein

• UniProt ID: Q16099
• Protein name: Glutamate receptor ionotropic, kainate 4 (GluK4) (Excitatory amino acid receptor 1) (EAA1) (Glutamate receptor KA-1) (KA1)
• Protein function: Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel. Cannot form functional channels on its own (PubMed:8263508). Shows channel activity only in heteromeric assembly with GRIK1, GRIK2 and GRIK3 subunits (B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	41 → 385	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	416 → 530	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	544 → 816	Ligand-gated ion channel	Family

• Sequence:

  MPRVSAPLVLLPAWLVMVACSPHSLRIAAILDDPMECSRGERLSITLAKNRINRAPERLG
  KAKVEVDIFELLRDSEYETAETMCQILPKGVVAVLGPSSSPASSSIISNICGEKEVPHFK
  VAPEEFVKFQFQRFTTLNLHPSNTDISVAVAGILNFFNCTTACLICAKAECLLNLEKLLR
  QFLISKDTLSVRMLDDTRDPTPLLKEIRDDKTATIIIHANASMSHTILLKAAELGMVSAY
  YTYIFTNLEFSLQRMDSLVDDRVNILGFSIFNQSHAFFQEFAQSLNQSWQENCDHVPFTG
  PALSSALLFDAVYAVVTAVQELNRSQEIGVKPLSCGSAQIWQHGTSLMNYLRMVELEGLT
  GHIEFNSKGQRSNYALKILQFTRNGFRQIGQWHVAEGLSMDSHLYASNISDTLFNTTLVV
  TTILENPYLMLKGNHQEMEGNDRYEGFCVDMLKELAEILRFNYKIRLVGDGVYGVPEANG
  TWTGMVGELIARKADLAVAGLTITAEREKVIDFSKPFMTLGISILYRVHMGRKPGYFSFL
  DPFSPGVWLFMLLAYLAVSCVLFLVARLTPYEWYSPHPCAQGRCNLLVNQYSLGNSLWFP
  VGGFMQQGSTIAPRALSTRCVSGVWWAFTLIIISSYTANLAAFLTVQRMDVPIESVDDLA
  DQTAIEYGTIHGGSSMTFFQNSRYQTYQRMWNYMYSKQPSVFVKSTEEGIARVLNSNYAF
  LLESTMNEYYRQRNCNLTQIGGLLDTKGYGIGMPVGSVFRDEFDLAILQLQENNRLEILK
  RKWWEGGKCPKEEDHRAKGLGMENIGGIFVVLICGLIVAIFMAMLEFLWTLRHSEATEVS
  VCQEMVTELRSIILCQDSIHPRRRRAAVPPPRPPIPEERRPRGTATLSNGKLCGAGEPDQ
  LAQRLAQEAALVARGCTHIRVCPECRRFQGLRARPSPARSEESLEWEKTTNSSEPE

• Sequence length: 956

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Glutamatergic synapse

Reactome:

Activation of Ca-permeable Kainate Receptor

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APPENDICITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24812308	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22543975	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26446216		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26446216, 29949767		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31844109	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16819533, 17449450, 22052594, 29243543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16819533, 17449450, 18824690, 22052594, 23357115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	18824690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	18824690	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy	Cerebral palsy	Pubtator	34098570	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32245654	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24812308		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24812308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	24812308	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	24812308		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	PSYGENET_DG	22203159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	27222927, 28284346, 29243543		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32245654	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32245654	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	24449200		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31166988		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	22698689	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24449200		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18824690, 31844109	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19073419		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	18824690		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	18824690	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22222462, 28583584, 31083176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22222462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	24189654		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24189654	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27222927, 28284346, 29243543		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	16819533, 30770891		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19073419		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	26446216		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	27510426, 29243543		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28631555		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32245654	Associate	★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	17449450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	19073419		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	17449450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	19073419		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24812308		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16325263, 16819533, 17449450, 18289755, 29949767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16325263, 17449450, 18289755, 23357115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16819533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18824690, 29032150, 31844109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	22222462, 28583584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22222462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations