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    GRIK2 glutamate ionotropic receptor kainate type subunit 2 [ Homo sapiens (human) ]

    Gene ID: 2898, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GRIK2provided by HGNC
    Official Full Name
    glutamate ionotropic receptor kainate type subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:4580
    See related
    Ensembl:ENSG00000164418 MIM:138244; AllianceGenome:HGNC:4580
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAA4; GLR6; MRT6; GLUK6; GLUR6; GluK2; NEDLAS
    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 composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 2.7), heart (RPKM 0.6) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GRIK2 in Genome Data Viewer
    Location:
    6q16.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (101393708..102070083)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (102567441..103245122)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (101841584..102517958)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984041 Neighboring gene NANOG hESC enhancer GRCh37_chr6:101399783-101400303 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1 like pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1689 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:101534194-101534783 Neighboring gene VISTA enhancer hs1738 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:101750186-101751385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:101846362-101847246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:101878111-101878612 Neighboring gene uncharacterized LOC101927388 Neighboring gene actin gamma 1 pseudogene 18 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:102062456-102063319 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:102164769-102165311 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:102189203-102189738 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:102521075-102522274 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:102554923-102555817 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:102555818-102556711 Neighboring gene uncharacterized LOC105377913 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87080 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:102617347-102617964 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:102617965-102618581 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87095 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87198 Neighboring gene TARDBP pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association of genes on chromosome 6, GRIK2 , TMEM217 and TMEM63B (linked to MRPL14 ) with diabetic retinopathy. Lin HJ, et al. Ophthalmologica, 2013. PMID 23037145
    2. Genetic analysis of the GRIK2 modifier effect in Huntington's disease. Zeng W, et al. BMC Neurosci, 2006 Sep 7. PMID 16959037, Free PMC Article
    3. Identification of C-terminal domain residues involved in protein kinase A-mediated potentiation of kainate receptor subtype 6. Kornreich BG, et al. Neuroscience, 2007 May 25. PMID 17379418, Free PMC Article
    4. Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios. Kim SA, et al. Neurosci Res, 2007 Jul. PMID 17428563
    5. Glutamate receptor 6 gene (GluR6 or GRIK2) polymorphisms in the Indian population: a genetic association study on autism spectrum disorder. Dutta S, et al. Cell Mol Neurobiol, 2007 Dec. PMID 17712621

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic signature discriminates lymphatic metastasis in BRAF wild-type thyroid carcinoma: methylation role of GRIK2.
      Title: Epigenetic signature discriminates lymphatic metastasis in BRAF wild-type thyroid carcinoma: methylation role of GRIK2.
    2. The Deletion of GluK2 Alters Cholinergic Control of Neuronal Excitability.
      Title: The Deletion of GluK2 Alters Cholinergic Control of Neuronal Excitability.
    3. Kainate receptor modulation by NETO2.
      Title: Kainate receptor modulation by NETO2.
    4. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
      Title: Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
    5. This study suggests that the rs2227283 polymorphism of the GRIK2 gene is related to aggressive behaviors in bipolar manic patients and that the A/A genotype and A allele may increase the risk of the aggressive behavior in bipolar manic patients.
      Title: Correlation between GRIK2 rs6922753, rs2227283 polymorphism and aggressive behaviors with Bipolar Mania in the Chinese Han population.
    6. Both the GRIK2 rs4840200-T and rs3213607-A, and the interactions between rs4840200 and rs9390754 are related to the increased risk of epilepsy risk.
      Title: Interaction among GRIK2 gene on epilepsy susceptibility in Chinese children.
    7. These results indicate involvement of GRIK2 in senescence and suggests GRIK2 as a potential target for therapeutic intervention of cancer cells.
      Title: Isoforms of Ionotropic Glutamate Receptor GRIK2 Induce Senescence of Carcinoma Cells.
    8. Study identifies differentially variable CpG sites in GRIK2 gene displaying increased expression in patients with chronic obstructive pulmonary disease.
      Title: Altered DNA methylation is associated with aberrant gene expression in parenchymal but not airway fibroblasts isolated from individuals with COPD.
    9. results suggest that PKC SUMOylation is an important regulator of the 14-3-3 and GluK2a protein complex and may contribute to regulate the decay kinetics of kainate receptor-excitatory postsynaptic currents
      Title: PKC SUMOylation inhibits the binding of 14-3-3τ to GluK2.
    10. these findings indicate that GRIK2 has a role in the maintenance of urothelial cancer stem cells and that GRIK2 and ALDH1 can be prognosis prediction markers for urinary tract carcinomas
      Title: GRIK2 has a role in the maintenance of urothelial carcinoma stem-like cells, and its expression is associated with poorer prognosis.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 6
    MedGen: C1970198 OMIM: 611092 GeneReviews: Not available
    		not available
    Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
    MedGen: C5562006 OMIM: 619580 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of biochemical traits in Korcula Island, Croatia.
    EBI GWAS Catalog
    Genome-wide association study of obsessive-compulsive disorder.
    EBI GWAS Catalog
    GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.
    EBI GWAS Catalog
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC74427

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellularly glutamate-gated ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables glutamate-gated calcium ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutamate-gated receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutamate-gated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables kainate selective glutamate receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables kainate selective glutamate receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in detection of cold stimulus involved in thermoception ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamate receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inhibitory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ionotropic glutamate receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in modulation of chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuronal action potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of long-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of short-term neuronal synaptic plasticity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of kainate selective glutamate receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mossy fiber rosette IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    glutamate receptor ionotropic, kainate 2
    Names
    GluK2(alt_5'UTR)
    bA487F5.1
    excitatory amino acid receptor 4
    gluR-6
    glutamate receptor 6
    glutamate receptor form A
    glutamate receptor form B
    glutamate receptor form C
    glutamate receptor form D
    glutamate receptor form E
    putative NMDtranscript(cassette_171nt)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009224.3 RefSeqGene

      Range
      5002..681377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166247.1 → NP_001159719.1  glutamate receptor ionotropic, kainate 2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001159719.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional exon in the 3' coding region, compared to transcript variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1. RNA editing changes Ile567Val, Tyr571Cys and Gln621Arg.
      Source sequence(s)
      AJ252246, AP002530, BC037954
      Consensus CDS
      CCDS55045.1
      UniProtKB/TrEMBL
      A0A804HKP5
      Related
      ENSP00000358134.1, ENST00000369138.5
      Conserved Domains (2) summary
      cd06382
      Location:37 → 414
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:430 → 800
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    2. NM_021956.5 → NP_068775.1  glutamate receptor ionotropic, kainate 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_068775.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). RNA editing changes Ile567Val, Tyr571Cys and Gln621Arg.
      Source sequence(s)
      AP002528, AP002529, AP002530
      Consensus CDS
      CCDS5048.1
      UniProtKB/Swiss-Prot
      A6NMY9, B5MCV0, D7RWZ3, D7RWZ4, D7RWZ5, D7RWZ6, D7RWZ7, Q13002, Q8WWS1, Q96KS6, Q96KS7, Q96KS8
      UniProtKB/TrEMBL
      A0A8D9PH75, A8K0H7
      Related
      ENSP00000358130.6, ENST00000369134.9
      Conserved Domains (2) summary
      cd06382
      Location:37 → 414
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:430 → 800
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    3. NM_175768.3 → NP_786944.1  glutamate receptor ionotropic, kainate 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_786944.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon in the 3' coding region, compared to transcript variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. RNA editing changes Ile567Val, Tyr571Cys and Gln621Arg.
      Source sequence(s)
      AJ301610, AK289542, AP002530, BC037954
      Consensus CDS
      CCDS5049.1
      UniProtKB/TrEMBL
      A0A804HKP5
      Related
      ENSP00000405596.1, ENST00000413795.5
      Conserved Domains (2) summary
      cd06382
      Location:37 → 414
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:430 → 800
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      101393708..102070083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418681.1 → XP_047274637.1  glutamate receptor ionotropic, kainate 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NMY9, B5MCV0, D7RWZ3, D7RWZ4, D7RWZ5, D7RWZ6, D7RWZ7, Q13002, Q8WWS1, Q96KS6, Q96KS7, Q96KS8
      UniProtKB/TrEMBL
      A0A8D9PH75, A8K0H7

    2. XM_047418682.1 → XP_047274638.1  glutamate receptor ionotropic, kainate 2 isoform X2

      UniProtKB/TrEMBL
      A0A804HKP5

    3. XM_017010781.3 → XP_016866270.1  glutamate receptor ionotropic, kainate 2 isoform X4

      UniProtKB/TrEMBL
      A0A804HI04
      Related
      ENSP00000506840.1, ENST00000682222.1
      Conserved Domains (2) summary
      cd06382
      Location:37 → 414
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:430 → 702
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    4. XM_017010782.3 → XP_016866271.1  glutamate receptor ionotropic, kainate 2 isoform X5

      UniProtKB/TrEMBL
      A8K7F0
      Related
      ENSP00000508069.1, ENST00000682115.1

    5. XM_005266946.5 → XP_005267003.1  glutamate receptor ionotropic, kainate 2 isoform X3

      See identical proteins and their annotated locations for XP_005267003.1

      UniProtKB/TrEMBL
      B7Z8P6
      Conserved Domains (2) summary
      cd06382
      Location:1 → 365
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:381 → 751
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      102567441..103245122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355243.1 → XP_054211218.1  glutamate receptor ionotropic, kainate 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NMY9, B5MCV0, D7RWZ3, D7RWZ4, D7RWZ5, D7RWZ6, D7RWZ7, Q13002, Q8WWS1, Q96KS6, Q96KS7, Q96KS8
      UniProtKB/TrEMBL
      A0A8D9PH75, A8K0H7

    2. XM_054355244.1 → XP_054211219.1  glutamate receptor ionotropic, kainate 2 isoform X2

      UniProtKB/TrEMBL
      A0A804HKP5

    3. XM_054355246.1 → XP_054211221.1  glutamate receptor ionotropic, kainate 2 isoform X4

      UniProtKB/TrEMBL
      A0A804HI04

    4. XM_054355247.1 → XP_054211222.1  glutamate receptor ionotropic, kainate 2 isoform X5

      UniProtKB/TrEMBL
      A8K7F0

    5. XM_054355245.1 → XP_054211220.1  glutamate receptor ionotropic, kainate 2 isoform X3

      UniProtKB/TrEMBL
      B7Z8P6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13002.1 GenPept UniProtKB/Swiss-Prot:Q13002

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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