GRIN2A - glutamate ionotropic receptor NMDA type subunit 2A Gene
Also Known as LKS; EPND; FESD; NR2A; GluN2A; NMDAR2A
Species: Homo sapiens
About GRIN2A
This gene has 19 transcripts (splice variants), 232 orthologues, 17 paralogues and is associated with 132 phenotypes. Biased expression in brain (RPKM 9.5), heart (RPKM 0.9) and 2 other tissues.
Summary
This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GRIN2A Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000833.5 | NP_000824.1 | glutamate receptor ionotropic, NMDA 2A isoform 1 precursor |
| NM_001134407.3 | NP_001127879.1 | glutamate receptor ionotropic, NMDA 2A isoform 1 precursor |
| NM_001134408.2 | NP_001127880.1 | glutamate receptor ionotropic, NMDA 2A isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables NMDA glutamate receptor activity |
IDA
IDA: Inferred from direct assay
|
20890276 | GOA |
| enables glutamate-gated calcium ion channel activity |
IDA
IDA: Inferred from direct assay
|
26875626 | GOA |
| enables glutamate-gated calcium ion channel activity |
IMP
IMP: Inferred from mutant phenotype
|
27839871 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11937501 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in calcium ion transmembrane import into cytosol |
IDA
IDA: Inferred from direct assay
|
26875626 | GOA |
| involved in calcium ion transmembrane import into cytosol |
IMP
IMP: Inferred from mutant phenotype
|
27839871 | GOA |
| involved in calcium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
24504326 | GOA |
| NOT involved in cellular response to amyloid-beta |
IGI
IGI: Inferred from genetic interaction
|
21883149 | GOA |
| involved in response to ethanol |
IDA
IDA: Inferred from direct assay
|
18445116 | GOA |
| involved in sodium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
36117210 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of NMDA selective glutamate receptor complex |
IDA
IDA: Inferred from direct assay
|
10480938 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
23933820 | GOA |
GRIN2A Protein Structure
ANF_receptor: Receptor family ligand binding region (114 - 265)
SBP_bac_3: Bacterial extracellular solute-binding proteins, family 3 (457 - 797)
Lig_chan: Ligand-gated ion channel (555 - 828)
NMDAR2_C: N-methyl D-aspartate receptor 2B3 C-terminus (839 - 1464)
- 0
- 300
- 600
- 900
- 1200
- 1464 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutamate receptor ionotropic, NMDA 2A |
|
GRIN2A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
GRIN2A | Q12879 | LRP1 | Homo sapiens | Q07954 | 17360663 | |
|
Intra
|
GRIN2A | Q12879 | DLG4 | Homo sapiens | P78352 | 21653829 | |
|
Intra
|
GRIN2A | Q12879 | DLG4 | Homo sapiens | P78352 | 11937501 | |
|
Intra
|
GRIN2A | Q12879 | DLG4 | Homo sapiens | P78352 | 11937501 | |
|
Cross
|
GRIN2A | Q12879 | Dlg3 | Rattus norvegicus | Q62936 | 11937501 | |
|
Cross
|
GRIN2A | Q12879 | Dlg3 | Rattus norvegicus | Q62936 | 11937501 | |
|
Cross
|
GRIN2A | Q12879 | Dlg4 | Rattus norvegicus | P31016 | 11937501 |
GRIN2A Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P80248 | NMDAR2A Antibody (YA264) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P84519 | GRIN2A Antibody (YA4216) | FC, ELISA | Human |
| HY-P84519A | GRIN2A Antibody (YA4216)(PBS only) | FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
|
| Landau-Kleffner Syndrome |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2a Mutation |
|
|
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
|
| Continuous Spike-Wave During Slow Sleep Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
|
| Epilepsy |
|
|
| Speech Disorder |
|
|
| Focal Epilepsy |
|
|
| High Pressure Neurological Syndrome |
|
|
| Aphasia |
|
|
| Huntington Disease |
|
|
| Auditory Agnosia |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Spontaneous Ocular Nystagmus |
|
|
| Speech And Communication Disorders |
|
|
| Alcohol Dependence |
|
|
| Bipolar Disorder |
|
|
| Fragile X Syndrome |
|
|
| Obsessive-Compulsive Disorder |
|
|
| Melanoma |
|
|
| Rett Syndrome |
|
|
| Schizophrenia |
|
|
| Childhood Electroclinical Syndrome |
|
|
| Brunner Syndrome |
|
|
| Anxiety |
|
|
| Narcolepsy |
|
|
| Autism Spectrum Disorder |
|
|
| Toxic Encephalopathy |
|
|
| Mood Disorder |
|
|
| Specific Developmental Disorder |
|
|
| Retrograde Amnesia |
|
|
| Fetal Alcohol Syndrome |
|
|
| Fetal Alcohol Spectrum Disorder |
|
|
| Amnestic Disorder |
|
|
| Temporal Lobe Neoplasm |
|
|
| Pervasive Developmental Disorder |
|
|
| Autism |
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
|
| Psychotic Disorder |
|
|
| Disease Of Mental Health |
|
|
| Mental Depression |
|
|
| Substance Dependence |
|
|
| Syndromic X-Linked Intellectual Disability |
|
|
| Learning Disability |
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
|
| Dravet Syndrome |
|
|
| West Syndrome |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Syndromic Intellectual Disability |
|
|
| Childhood Absence Epilepsy |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Choreatic Disease |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Nervous System Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | GRIN2A | RGD | RGD:2737 |
| Canis familiaris | GRIN2A | VGNC | VGNC:41492 |
| Felis catus | GRIN2A | VGNC | VGNC:67471 |
| Bos taurus | GRIN2A | VGNC | VGNC:29646 |
| Macaca mulatta | GRIN2A | VGNC | VGNC:73282 |
| Mus musculus | GRIN2A | MGD | MGI:95820 |
| Others | GRIN2A | NCBI |