Gene
grin2bb
- ID
- ZDB-GENE-061207-27
- Name
- glutamate receptor, ionotropic, N-methyl D-aspartate 2B, genome duplicate b
- Symbol
- grin2bb 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 several diseases, including alcohol use disorder; autosomal dominant non-syndromic intellectual disability 6; bipolar disorder; early infantile epileptic encephalopathy 27; and neurodegenerative disease (multiple). Orthologous to human GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zoodsma et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant intellectual developmental disorder 6 | Alliance | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | 613970 |
developmental and epileptic encephalopathy 27 | Alliance | Developmental and epileptic encephalopathy 27 | 616139 |
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:A0A8M1NH89
|
1770 | |||||||
UniProtKB:A0A8M6YZH9
|
1488 | |||||||
UniProtKB:A0A8M6Z5Y2
|
1218 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
grin2bb-201
(1)
|
Ensembl | 9,345 nt |
Interactions and Pathways
No data available
Plasmids
No data available