Gene
grin2ab
- ID
- ZDB-GENE-070424-223
- Name
- glutamate receptor, ionotropic, N-methyl D-aspartate 2A, b
- Symbol
- grin2ab Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have NMDA glutamate receptor activity and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to be involved in excitatory postsynaptic potential; glutamatergic synaptic transmission; and long-term synaptic potentiation. Predicted to localize to NMDA selective glutamate receptor complex and postsynaptic density membrane. Human ortholog(s) of this gene implicated in Huntington's disease; bipolar disorder; and schizophrenia. Is expressed in retina and retinal ganglion cell layer. Orthologous to human GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7137621 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Landau-Kleffner syndrome | Alliance | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | 245570 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001320 | Ionotropic glutamate receptor, C-terminal |
| Domain | IPR001828 | Receptor, ligand binding region |
| Domain | IPR018884 | Glutamate [NMDA] receptor, epsilon subunit, C-terminal |
| Domain | IPR019594 | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain |
| Family | IPR001508 | Ionotropic glutamate receptor, metazoa |
| Family | IPR015683 | Ionotropic glutamate receptor |
| Homologous_superfamily | IPR028082 | Periplasmic binding protein-like I |
Domain Details Per Protein
| Protein | Length | Glutamate [NMDA] receptor, epsilon subunit, C-terminal | Ionotropic glutamate receptor | Ionotropic glutamate receptor, C-terminal | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain | Ionotropic glutamate receptor, metazoa | Periplasmic binding protein-like I | Receptor, ligand binding region |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PIL3
|
1393 | |||||||
|
UniProtKB:F1QDE5
|
1445 | |||||||
|
UniProtKB:A0A8M9PIL7
|
147 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
grin2ab-201
(1)
|
Ensembl | 7,364 nt | ||
| mRNA |
grin2ab-202
(1)
|
Ensembl | 5,416 nt |
Interactions and Pathways
No data available
Plasmids
No data available