GRIK5 glutamate ionotropic receptor kainate type subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRIK5provided by HGNC
Official Full Name: glutamate ionotropic receptor kainate type subunit 5provided by HGNC
Primary source: HGNC:HGNC:4583
See related: Ensembl:ENSG00000105737 MIM:600283; AllianceGenome:HGNC:4583
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: KA2; EAA2; GRIK2; GluK5
Summary: This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression: Broad expression in testis (RPKM 5.6), brain (RPKM 5.5) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41998324..42070206, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (44817686..44889570, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42502476..42574358, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GRIK5 stimulates colon cancer growth and metastasis through cAMP/PKA/CADM3 signaling.
Title: GRIK5 stimulates colon cancer growth and metastasis through cAMP/PKA/CADM3 signaling.
Low GRIK5 expression is associated with eye diseases.
Title: GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.
Authors present evidence that the ER retention signals in the kainate receptors containing GluK5 impose a requirement for sorting into local dendritic secretory pathways in neurons, as opposed to traversing the somatic Golgi apparatus.
Title: A novel function for the ER retention signals in the C-terminus of kainate receptor subunit, GluK5.
The AA genotype of GRIK5 had a protective effect against chronic obstructive pulmonary disease.
Title: [Polymorphic Variants of Glutamate Receptor (GRIK5, GRIN2B) and Serotonin Receptor (HTR2A) Genes Are Associated with Chronic Obstructive Pulmonary Disease].
CaMKII-dependent phosphorylation of GluK5 is responsible for synaptic depression by untrapping of KARs from the PSD and increased diffusion away from synaptic sites.
Title: CaMKII-dependent phosphorylation of GluK5 mediates plasticity of kainate receptors.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Association analysis of the glutamic acid decarboxylase 2 and the glutamine synthetase genes (GAD2, GLUL) with schizophrenia.
Functional dysregulation of glutamate uptake was associated with early increases in mRNA and protein expression of the glial glutamate transporter EAAT-2 followed by a sustained decrease in mRNA expression in astrocytes infected with both HHV-6A & HHV-6B.
Title: Human herpesvirus 6 (HHV-6) induces dysregulation of glutamate uptake and transporter expression in astrocytes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
GRIK 5 gene is linked to rapid-onset dystonia-parkinsonism.
Title: Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
characterization the trafficking and surface expression of KA2
Title: Trafficking and surface expression of the glutamate receptor subunit, KA2.

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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

EBI GWAS Catalog

Description
Genome-wide association study on bipolar disorder in the Bulgarian population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GRIK5_3042 (e-PCR)
- UniSTS:468064

SHGC-148130 (e-PCR)
- UniSTS:172933

Grik5 (e-PCR), detects polymorphism
- UniSTS:496047

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to glutamate-gated receptor activity	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS Non-traceable Author Statement more info	PubMed
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 excitatory postsynaptic potential	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 monoatomic ion transmembrane transport	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 synaptic vesicle fusion to presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	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 nucleoplasm	IDA Inferred from Direct Assay more info
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
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 5

Names: excitatory amino acid receptor 2; glutamate receptor KA2; putative NMDtranscript(altDon_e2); putative NMDtranscript(del_e13-e15)

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.

mRNA and Protein(s)

NM_001301030.2 → NP_001287959.1 glutamate receptor ionotropic, kainate 5 isoform 1 precursor

See identical proteins and their annotated locations for NP_001287959.1

Status: REVIEWED

Source sequence(s)

AC010616, AC020946, AC022515

Consensus CDS

CCDS77305.1

UniProtKB/Swiss-Prot

Q16478

Related

ENSP00000301218.3, ENST00000301218.8

Conserved Domains (4) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam00060
Location:545 → 815

Lig_chan; Ligand-gated ion channel

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 784

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
NM_002088.5 → NP_002079.3 glutamate receptor ionotropic, kainate 5 isoform 2 precursor

See identical proteins and their annotated locations for NP_002079.3

Status: REVIEWED

Source sequence(s)

AC010616, AC020946, AC022515

Consensus CDS

CCDS12595.1

UniProtKB/Swiss-Prot

Q16478, Q8WWG8

Related

ENSP00000470251.1, ENST00000593562.6

Conserved Domains (4) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam00060
Location:545 → 815

Lig_chan; Ligand-gated ion channel

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 784

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

41998324..42070206 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526862.3 → XP_011525164.1 glutamate receptor ionotropic, kainate 5 isoform X2

Conserved Domains (4) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam00060
Location:546 → 816

Lig_chan; Ligand-gated ion channel

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 785

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
XM_011526865.2 → XP_011525167.1 glutamate receptor ionotropic, kainate 5 isoform X1

Conserved Domains (4) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam00060
Location:546 → 816

Lig_chan; Ligand-gated ion channel

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 785

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
XM_047438705.1 → XP_047294661.1 glutamate receptor ionotropic, kainate 5 isoform X3
XM_047438706.1 → XP_047294662.1 glutamate receptor ionotropic, kainate 5 isoform X5
XM_011526869.3 → XP_011525171.1 glutamate receptor ionotropic, kainate 5 isoform X4

Conserved Domains (3) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 613

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
XM_011526871.3 → XP_011525173.1 glutamate receptor ionotropic, kainate 5 isoform X7

UniProtKB/TrEMBL

A0A8D9UIS7

Conserved Domains (3) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 491

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
XM_011526870.3 → XP_011525172.1 glutamate receptor ionotropic, kainate 5 isoform X6

Conserved Domains (3) summary

cd06394
Location:25 → 399

PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor

pfam01094
Location:42 → 379

ANF_receptor; Receptor family ligand binding region

cl21456
Location:414 → 491

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

RNA

XR_935810.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

44817686..44889570 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320746.1 → XP_054176721.1 glutamate receptor ionotropic, kainate 5 isoform X2
XM_054320745.1 → XP_054176720.1 glutamate receptor ionotropic, kainate 5 isoform X1
XM_054320747.1 → XP_054176722.1 glutamate receptor ionotropic, kainate 5 isoform X3
XM_054320748.1 → XP_054176723.1 glutamate receptor ionotropic, kainate 5 isoform X4
XM_054320749.1 → XP_054176724.1 glutamate receptor ionotropic, kainate 5 isoform X5
XM_054320751.1 → XP_054176726.1 glutamate receptor ionotropic, kainate 5 isoform X7

UniProtKB/TrEMBL

A0A8D9UIS7
XM_054320750.1 → XP_054176725.1 glutamate receptor ionotropic, kainate 5 isoform X6