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

Gene ID: 2898, updated on 12-May-2016
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 HPRD:00692; MIM:138244; Vega:OTTHUMG00000016328
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 mental retardation. [provided by RefSeq, Jul 2008]
Orthologs
Location:
6q16.3
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 defective in cullin neddylation 1 domain containing 1 pseudogene Neighboring gene activating signal cointegrator 1 complex subunit 3 Neighboring gene uncharacterized LOC102724422 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1-like pseudogene Neighboring gene uncharacterized LOC101927388 Neighboring gene uncharacterized LOC105377912 Neighboring gene actin gamma 1 pseudogene 18 Neighboring gene uncharacterized LOC105377913 Neighboring gene TAR DNA-binding protein 43 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, autosomal recessive 6
MedGen: C1970198 OMIM: 611092 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC74427

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
extracellular-glutamate-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
kainate selective glutamate receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
intracellular protein transport 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 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 short-term neuronal synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
transport NAS
Non-traceable Author Statement
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
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
kainate selective glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 
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
glutamate receptor, ionotropic, kainate 2

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, OTTHUMP00000017951, ENST00000369138, OTTHUMT00000043720
    Conserved Domains (4) summary
    pfam00060
    Location:562831
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    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, OTTHUMP00000017949, ENST00000421544, OTTHUMT00000043718
    Conserved Domains (4) summary
    pfam00060
    Location:562831
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    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, OTTHUMP00000017950, ENST00000413795, OTTHUMT00000043719
    Conserved Domains (4) summary
    pfam00060
    Location:562831
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266945.2XP_005267002.1  

    See identical proteins and their annotated locations for XP_005267002.1

    UniProtKB/Swiss-Prot
    Q13002
    Conserved Domains (4) summary
    pfam00060
    Location:562831
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    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_011535779.1XP_011534081.1  

    UniProtKB/Swiss-Prot
    Q13002
    Conserved Domains (4) summary
    pfam00497
    Location:456722
    SBP_bac_3; Bacterial extracellular solute-binding proteins, family 3
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    cd13721
    Location:430724
    PBP2_iGluR_Kainate_GluR6; GluR6 subtype of kainate receptor, type 2 periplasmic-binding fold superfamily
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  3. XM_011535777.1XP_011534079.1  

    See identical proteins and their annotated locations for XP_011534079.1

    UniProtKB/Swiss-Prot
    Q13002
    Conserved Domains (4) summary
    pfam00060
    Location:562831
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    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_011535778.1XP_011534080.1  

    See identical proteins and their annotated locations for XP_011534080.1

    UniProtKB/Swiss-Prot
    Q13002
    Conserved Domains (4) summary
    pfam00060
    Location:562831
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    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_011535780.1XP_011534082.1  

    Conserved Domains (3) summary
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430622
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  6. XM_011535781.1XP_011534083.1  

    Conserved Domains (3) summary
    pfam01094
    Location:52395
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:34414
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:430546
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  7. XM_005266946.2XP_005267003.1  

    See identical proteins and their annotated locations for XP_005267003.1

    Related
    ENSP00000358130, ENST00000369134
    Conserved Domains (4) summary
    pfam00060
    Location:513782
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:3346
    ANF_receptor; Receptor family ligand binding region
    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

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    102108429..102780216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)