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Gene Gene information from NCBI Gene database.
Entrez ID 2901
Gene name Glutamate ionotropic receptor kainate type subunit 5
Gene symbol GRIK5
Synonyms (NCBI Gene)
EAA2GRIK2GluK5KA2
Chromosome 19
Chromosome location 19q13.2
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
miRNA miRNA information provided by mirtarbase database.
14 Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT045128 hsa-miR-186-5p CLASH 23622248
MIRT515221 hsa-miR-126-5p PAR-CLIP 23446348
MIRT515220 hsa-miR-4795-3p PAR-CLIP 23446348
MIRT515221 hsa-miR-126-5p PAR-CLIP 23446348
MIRT515220 hsa-miR-4795-3p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42 Show/Hide all (42)
GO ID Ontology Definition Evidence Reference
GO:0004970 Function Glutamate-gated receptor activity IDA 8730589, 14511640
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600283 4583 ENSG00000105737
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16478
Protein name Glutamate receptor ionotropic, kainate 5 (GluK5) (Excitatory amino acid receptor 2) (EAA2) (Glutamate receptor KA-2) (KA2)
Protein function Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. Cannot form functional channels on its own and produces channel activity only in heterom
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00060 Lig_chan 543 → 815 Ligand-gated ion channel Family
PF01094 ANF_receptor 39 → 384 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 415 → 529 Ligated ion channel L-glutamate- and glycine-binding site Domain
Sequence
Sequence length 980
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Neuroactive ligand-receptor interaction Activation of Ca-permeable Kainate Receptor
Glutamatergic synapse  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
BIPOLAR DISORDER — Disgenet, GWAS catalog
Disgenet, GWAS catalog
21771265
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GRIK5-related disorder Uncertain significance; Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — CTD, Disgenet
CTD, Disgenet
18923069
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (136)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15205317
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 24311777 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 30738099
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 21996756, 22543975, 36340933 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 17428563, 17712621, 31132842
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 11920157, 15094479, 15305151, 15389769, 17167233, 17712621, 20442744, 20863077
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism LHGDN 11920157, 17167233, 17712621
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 11920157, 20442744
★★★★★
★☆☆☆☆
Found in Text Mining only