Gene
glra2
- ID
- ZDB-GENE-090407-1
- Name
- glycine receptor, alpha 2
- Symbol
- glra2 Nomenclature History
- Previous Names
-
- si:ch211-12n8.3
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Enables extracellularly glycine-gated ion channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to act upstream of or within chloride transport and monoatomic ion transmembrane transport. Predicted to be located in cell projection and postsynaptic membrane. Predicted to be part of chloride channel complex. Is expressed in dorsal telencephalon; hindbrain; spinal cord; and ventral telencephalon. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Pilorge type. Orthologous to human GLRA2 (glycine receptor alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 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 Pilorge et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-glra2 | Samarut et al., 2019 | |
| MO1-glra2 | N/A | Hirata et al., 2013 |
| MO2-glra2 | N/A | Pilorge et al., 2016 |
1 - 3 of 3
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic X-linked intellectual disability Pilorge type | Alliance | Intellectual developmental disorder, X-linked syndromic, Pilorge type | 301076 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
| Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
| Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
| Family | IPR006028 | Gamma-aminobutyric acid A receptor/Glycine receptor alpha |
| Family | IPR006201 | Neurotransmitter-gated ion-channel |
| Family | IPR008127 | Glycine receptor alpha |
| Homologous_superfamily | IPR036719 | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
| Homologous_superfamily | IPR036734 | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
| Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
Domain Details Per Protein
| Protein | Additional Resources | Length | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | Glycine receptor alpha | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PSE3 | InterPro | 448 | |||||||||
| UniProtKB:D1KZ66 | InterPro | 448 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-12N8 | ZFIN Curated Data |
1 - 1 of 1
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001167899 (1) | 1347 nt | ||
| Genomic | GenBank:AL732610 (1) | 176982 nt | ||
| Polypeptide | UniProtKB:A0A8M9PSE3 (1) | 448 aa |
- Rauschenberger, V., Wardenburg, N.V., Schaefer, N., Ogino, K., Hirata, H., Lillesaar, C., Kluck, C.J., Meinck, H.M., Borrmann, M., Weishaupt, A., Doppler, K., Wickel, J., Geis, C., Sommer, C., Villmann, C. (2020) GlyR autoantibodies impair receptor function and induce motor dysfunction. Annals of neurology. 88(3):544-561
- Liu, H., Liu, Z.Z. (2019) Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome. Behavioural brain research. 378:112293
- Samarut, E., Chalopin, D., Riché, R., Allard, M., Liao, M., Drapeau, P. (2019) Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish. PLoS One. 14:e0216159
- Low, S.E., Ito, D., Hirata, H. (2018) Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry. Frontiers in molecular neuroscience. 11:286
- Pilorge, M., Fassier, C., Le Corronc, H., Potey, A., Bai, J., De Gois, S., Delaby, E., Assouline, B., Guinchat, V., Devillard, F., Delorme, R., Nygren, G., Råstam, M., Meier, J.C., Otani, S., Cheval, H., James, V.M., Topf, M., Dear, T.N., Gillberg, C., Leboyer, M., Giros, B., Gautron, S., Hazan, J., Harvey, R.J., Legendre, P., Betancur, C. (2016) Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Molecular psychiatry. 21(7):936-45
- Hirata, H., Ogino, K., Yamada, K., Leacock, S., and Harvey, R.J. (2013) Defective Escape Behavior in DEAH-Box RNA Helicase Mutants Improved by Restoring Glycine Receptor Expression. The Journal of neuroscience : the official journal of the Society for Neuroscience. 33(37):14638-14644
1 - 6 of 6
Show