Gene
grin2aa
- ID
- ZDB-GENE-070424-129
- Name
- glutamate receptor, ionotropic, N-methyl D-aspartate 2A, a
- Symbol
- grin2aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable NMDA glutamate receptor activity and transmitter-gated monoatomic 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 act upstream of or within monoatomic ion transmembrane transport. Predicted to be located in postsynaptic membrane. Predicted to be part of NMDA selective glutamate receptor complex. Predicted to be active in postsynaptic density membrane. Is expressed in retina. Human ortholog(s) of this gene implicated in several diseases, including Huntington's disease; alcohol dependence; bipolar disorder; colorectal cancer; and heroin dependence. Orthologous to human GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
a280 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
sa13836 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14573 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa40072 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa40073 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sbu97 | Allele with one delins | Exon 10 | Unknown | CRISPR | |
sbu98 | Allele with one deletion | Exon 10 | Unknown | CRISPR | |
sbu99 | Allele with one delins | Exon 10 | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-grin2aa | Thyme et al., 2019 | |
CRISPR2-grin2aa | Zoodsma et al., 2022 |
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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 |
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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 |
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Domain Details Per Protein
Protein | Additional Resources | 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:A0A8M9PXD6 | InterPro | 1460 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
grin2aa-201
(1)
|
Ensembl | 9,441 nt | ||
ncRNA |
grin2aa-002
(1)
|
Ensembl | 487 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-13C14 | ZFIN Curated Data | |
Contained in | BAC | DKEY-77J9 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068218021 (1) | 9434 nt | ||
Genomic | GenBank:BX908803 (2) | 179118 nt | ||
Polypeptide | UniProtKB:A0A8M9PXD6 (1) | 1460 aa |
- Zoodsma, J.D., Keegan, E.J., Moody, G.R., Bhandiwad, A.A., Napoli, A.J., Burgess, H.A., Wollmuth, L.P., Sirotkin, H.I. (2022) Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish. Molecular autism. 13:38
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Liu, C., Wang, Y., Deng, J., Lin, J., Hu, C., Li, Q., Xu, X. (2021) Social Deficits and Repetitive Behaviors Are Improved by Early Postnatal Low-Dose VPA Intervention in a Novel shank3-Deficient Zebrafish Model. Frontiers in neuroscience. 15:682054
- You, M.S., Yang, W.B., Cheng, C.H., Yu, S., Chang, H.C., Yu, H.S. (2020) Red LED light treatment promotes cognitive learning through up-regulation of trpm4 in zebrafish. Journal of photochemistry and photobiology. B, Biology. 213:112073
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Zheng, Y., Yuan, J., Meng, S., Chen, J., Gu, Z. (2018) Testicular transcriptome alterations in zebrafish (Danio rerio) exposure to 17β-estradiol. Chemosphere. 218:14-25
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Sheets, L. (2017) Excessive activation of ionotropic glutamate receptors induces apoptotic hair-cell death independent of afferent and efferent innervation. Scientific Reports. 7:41102
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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