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

Gene ID: 2898, updated on 3-Jan-2019

Summary

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
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
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

Genomic context

See GRIK2 in Genome Data Viewer
Location:
6q16.3
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (101393708..102070083)
105 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 mitogen-activated protein kinase 1 interacting protein 1-like pseudogene Neighboring gene VISTA enhancer hs1738 Neighboring gene uncharacterized LOC101927388 Neighboring gene actin gamma 1 pseudogene 18 Neighboring gene uncharacterized LOC105377913 Neighboring gene TAR DNA-binding protein 43 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 6
MedGen: C1970198 OMIM: 611092 GeneReviews: Not available
Compare labs

NHGRI 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
NHGRI GWA Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
NHGRI GWA Catalog
Genome-wide association study of obsessive-compulsive disorder.
NHGRI GWA Catalog
GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.
NHGRI GWA Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC74427

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
extracellularly glutamate-gated ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kainate selective glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kainate selective glutamate receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
ligand-gated ion channel activity involved in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin conjugating enzyme binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
inhibitory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuronal action potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor clustering IEA
Inferred from Electronic Annotation
more info
 
regulation of JNK cascade IEA
Inferred from Electronic Annotation
more info
 
regulation of long-term neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of short-term neuronal synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
kainate selective glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glutamate receptor ionotropic, kainate 2
Names
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

NCBI Reference Sequences (RefSeq)

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_009224.2 RefSeqGene

    Range
    4957..676054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166247.1NP_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/Swiss-Prot
    Q13002
    UniProtKB/TrEMBL
    Q8IY40
    Related
    ENSP00000358134.1, ENST00000369138.5
    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  2. NM_021956.4NP_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)
    AK289542, AP002530, BC037954, U16126
    Consensus CDS
    CCDS5048.1
    UniProtKB/Swiss-Prot
    Q13002
    UniProtKB/TrEMBL
    A8K0H7, Q8IY40
    Related
    ENSP00000397026.1, ENST00000421544.6
    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  3. NM_175768.3NP_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/Swiss-Prot
    Q13002
    UniProtKB/TrEMBL
    A8K0H7, Q8IY40
    Related
    ENSP00000405596.1, ENST00000413795.5
    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024446411.1XP_024302179.1  glutamate receptor ionotropic, kainate 2 isoform X3

    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  2. XM_024446410.1XP_024302178.1  glutamate receptor ionotropic, kainate 2 isoform X2

    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  3. XM_005266945.2XP_005267002.1  glutamate receptor ionotropic, kainate 2 isoform X1

    See identical proteins and their annotated locations for XP_005267002.1

    UniProtKB/Swiss-Prot
    Q13002
    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  4. XM_011535777.3XP_011534079.1  glutamate receptor ionotropic, kainate 2 isoform X2

    See identical proteins and their annotated locations for XP_011534079.1

    UniProtKB/Swiss-Prot
    Q13002
    Conserved Domains (2) summary
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  5. XM_017010781.2XP_016866270.1  glutamate receptor ionotropic, kainate 2 isoform X5

  6. XM_017010782.2XP_016866271.1  glutamate receptor ionotropic, kainate 2 isoform X6

  7. XM_005266946.4XP_005267003.1  glutamate receptor ionotropic, kainate 2 isoform X4

    See identical proteins and their annotated locations for XP_005267003.1

    Related
    ENSP00000358130.5, ENST00000369134.8
    Conserved Domains (2) summary
    cl10011
    Location:1365
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:381751
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

RNA

  1. XR_002956278.1 RNA Sequence

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