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

Gene ID: 2898, updated on 19-Sep-2021

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
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Genomic context

See GRIK2 in Genome Data Viewer
Location:
6q16.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (101393708..102070083)
105.20201022 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
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
GeneReviews: Not available
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
GeneReviews: Not available
Genome-wide association study of obsessive-compulsive disorder.
GeneReviews: Not available
GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.
GeneReviews: Not available
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
GeneReviews: Not available
Mental retardation, autosomal recessive 6
MedGen: C1970198 OMIM: 611092 GeneReviews: Not available
Compare labs
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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

Component Evidence Code Pubs
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of kainate selective glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 

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)

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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
    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
    UniProtKB/TrEMBL
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 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
    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. XM_024446410.1XP_024302178.1  glutamate receptor ionotropic, kainate 2 isoform X2

    Related
    ENSP00000508175.1, ENST00000684068.1
    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:430800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  3. 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
    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
  4. XM_017010781.2XP_016866270.1  glutamate receptor ionotropic, kainate 2 isoform X5

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

    Related
    ENSP00000508069.1, ENST00000682115.1
  6. XM_005266946.4XP_005267003.1  glutamate receptor ionotropic, kainate 2 isoform X4

    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

RNA

  1. XR_002956278.1 RNA Sequence

    Related
    ENST00000683806.1
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