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

Gene ID: 2898, updated on 22-Sep-2022

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; 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
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Genomic context

See GRIK2 in Genome Data Viewer
Location:
6q16.3
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (101393708..102070083)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (102567466..103245122)
105.20220307 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 Sharpr-MPRA regulatory region 1689 Neighboring gene VISTA enhancer hs1738 Neighboring gene uncharacterized LOC101927388 Neighboring gene actin gamma 1 pseudogene 18 Neighboring gene uncharacterized LOC105377913 Neighboring gene TARDBP pseudogene 5

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 6
MedGen: C1970198 OMIM: 611092 GeneReviews: Not available
Compare labs
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
MedGen: C5562006 OMIM: 619580 GeneReviews: Not available
Compare labs

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

Pathways from PubChem

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
enables PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
enables SNARE binding IEA
Inferred from Electronic Annotation
more info
 
enables extracellularly glutamate-gated ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables kainate selective glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables kainate selective glutamate receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ligand-gated ion channel activity involved in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
enables scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
enables signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin conjugating enzyme binding IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular calcium ion homeostasis 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 ion transmembrane transport 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
PubMed 
involved_in modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
involved_in modulation of excitatory postsynaptic potential 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 neuron apoptotic process 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 receptor clustering IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of JNK cascade 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
PubMed 
Component Evidence Code Pubs
located_in dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in mossy fiber rosette IEA
Inferred from Electronic Annotation
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in terminal bouton IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001166247.1NP_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
    cd06382
    Location:37414
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  2. NM_021956.5NP_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
    Q13002, Q96KS8
    UniProtKB/TrEMBL
    A0A8D9PH75, A8K0H7, Q8IY40
    Related
    ENSP00000358130.6, ENST00000369134.9
    Conserved Domains (2) summary
    cd06382
    Location:37414
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    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
    cd06382
    Location:37414
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047418681.1XP_047274637.1  glutamate receptor ionotropic, kainate 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KS8
    UniProtKB/TrEMBL
    A0A8D9PH75
  2. XM_047418682.1XP_047274638.1  glutamate receptor ionotropic, kainate 2 isoform X2

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

    Related
    ENSP00000506840.1, ENST00000682222.1
    Conserved Domains (2) summary
    cd06382
    Location:37414
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:430702
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  4. XM_017010782.3XP_016866271.1  glutamate receptor ionotropic, kainate 2 isoform X5

    Related
    ENSP00000508069.1, ENST00000682115.1
  5. XM_005266946.5XP_005267003.1  glutamate receptor ionotropic, kainate 2 isoform X3

    See identical proteins and their annotated locations for XP_005267003.1

    Conserved Domains (2) summary
    cd06382
    Location:1365
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:381751
    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
    102567466..103245122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)