GRIK2 - glutamate ionotropic receptor kainate type subunit 2 Gene
Also Known as EAA4; GLR6; MRT6; GLUK6; GLUR6; GluK2; NEDLAS
Species: Homo sapiens
About GRIK2
This gene has 41 transcripts (splice variants), 333 orthologues, 17 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 2.7), heart (RPKM 0.6) and 5 other tissues.
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]
GRIK2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001166247.1 | NP_001159719.1 | glutamate receptor ionotropic, kainate 2 isoform 3 precursor |
| NM_021956.5 | NP_068775.1 | glutamate receptor ionotropic, kainate 2 isoform 1 precursor |
| NM_175768.3 | NP_786944.1 | glutamate receptor ionotropic, kainate 2 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables extracellularly glutamate-gated ion channel activity |
IMP
IMP: Inferred from mutant phenotype
|
28180184 | GOA |
| enables glutamate-gated receptor activity |
IDA
IDA: Inferred from direct assay
|
7536611 | GOA |
| enables glutamate-gated receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
34375587 | GOA |
| enables kainate selective glutamate receptor activity |
IDA
IDA: Inferred from direct assay
|
15537878 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in modulation of chemical synaptic transmission |
IDA
IDA: Inferred from direct assay
|
15537878 | GOA |
| involved in positive regulation of synaptic transmission |
IMP
IMP: Inferred from mutant phenotype
|
15537878 | GOA |
| involved in regulation of short-term neuronal synaptic plasticity |
IMP
IMP: Inferred from mutant phenotype
|
15537878 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
14511640 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
34375587 | GOA |
GRIK2 Protein Structure
ANF_receptor: Receptor family ligand binding region (54 - 393)
Lig_chan-Glu_bd: Ligated ion channel L-glutamate- and glycine-binding site (442 - 507)
Lig_chan: Ligand-gated ion channel (561 - 831)
- 0
- 200
- 400
- 600
- 800
- 908 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutamate receptor ionotropic, kainate 2 |
|
Recombinant GRIK2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P75156 | GRIK2 Protein, Human (HEK293, hFc) | Q13002/NP_001159719.1 (T32-P561) | ≥ 95%, as determined by reducing SDS-PAGE. |
GRIK2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82960 | GRIK2 Antibody (YA2705) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
|
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
|
| Cerebral Visual Impairment |
|
|
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
|
| Obsessive-Compulsive Disorder |
|
|
| Temporal Lobe Epilepsy |
|
|
| Huntington Disease |
|
|
| Brugada Syndrome 3 |
|
|
| Non-Syndromic X-Linked Intellectual Disability 90 |
|
|
| Schizophrenia |
|
|
| Autosomal Recessive Intellectual Developmental Disorder |
|
|
| Spherocytosis, Type 1 |
|
|
| Childhood Astrocytic Tumor |
|
|
| Epilepsy |
|
|
| Bipolar Disorder |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | GRIK2 | RGD | RGD:2733 |
| Mus musculus | GRIK2 | MGD | MGI:95815 |
| Bos taurus | GRIK2 | VGNC | VGNC:29643 |
| Felis catus | GRIK2 | VGNC | VGNC:67468 |
| Canis familiaris | GRIK2 | VGNC | VGNC:41487 |
| Macaca mulatta | GRIK2 | VGNC | VGNC:81075 |
| Others | GRIK2 | NCBI |