Gene
gabrb2a
- ID
- ZDB-GENE-030131-8196
- Name
- gamma-aminobutyric acid type A receptor subunit beta2a
- Symbol
- gabrb2a Nomenclature History
- Previous Names
-
- gabrb2
- fj59e04
- si:ch211-215g18.1
- wu:fj59e04
- zgc:136311
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have GABA-A receptor activity and extracellular ligand-gated ion channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; nervous system process; and regulation of membrane potential. Predicted to localize to integral component of plasma membrane; neuron projection; and synapse. Human ortholog(s) of this gene implicated in autistic disorder and infantile or early childhood epileptic encephalopathy 2. Is expressed in nervous system. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la018870Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la018871Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa12791 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa35684 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa35685 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa44807 | Allele with one point mutation | Unknown | Unknown | ENU |
1 - 6 of 6
Show
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 92 | Alliance | Developmental and epileptic encephalopathy 92 | 617829 |
1 - 1 of 1
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 | IPR002289 | Gamma-aminobutyric-acid A receptor, beta subunit |
Family | IPR006028 | Gamma-aminobutyric acid A receptor/Glycine receptor alpha |
1 - 5 of 9 Show all
Domain Details Per Protein
Protein | Length | Gamma-aminobutyric-acid A receptor, beta subunit | Gamma-aminobutyric acid A receptor/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:Q9DDD9
|
519 | |||||||||
UniProtKB:A0A8M2BKD0
|
472 | |||||||||
UniProtKB:A4FUK8
|
519 | |||||||||
UniProtKB:A0A8M1N6N1
|
519 |
1 - 4 of 4
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
gabrb2-201
(1)
|
Ensembl | 3,200 nt | ||
mRNA |
gabrb2-202
(1)
|
Ensembl | 907 nt | ||
ncRNA |
gabrb2-002
(1)
|
Ensembl | 880 nt |
1 - 3 of 3
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-215G18 | ZFIN Curated Data | |
Contained in | BAC | DKEY-217K23 | ZFIN Curated Data | |
Encodes | EST | fj59e04 | ||
Encodes | cDNA | MGC:136311 | ZFIN Curated Data |
1 - 4 of 4
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001024387 (1) | 3145 nt | ||
Genomic | GenBank:BX120008 (1) | 221928 nt | ||
Polypeptide | UniProtKB:A0A8M1N6N1 (1) | 519 aa |
- Bampali, K., Koniuszewski, F., Vogel, F.D., Fabjan, J., Andronis, C., Lekka, E., Virvillis, V., Seidel, T., Delaunois, A., Royer, L., Rolf, M.G., Giuliano, C., Traebert, M., Roussignol, G., Fric-Bordat, M., Mazelin-Winum, L., Bryant, S.D., Langer, T., Ernst, M. (2023) GABAA receptor-mediated seizure liabilities: a mixed-methods screening approach. Cell biology and toxicology. 39(6):2793-2819
- Wang, Y., Liu, C., Deng, J., Xu, Q., Lin, J., Li, H., Hu, M., Hu, C., Li, Q., Xu, X. (2023) Behavioral and Sensory Deficits Associated with Dysfunction of GABAergic System in a Novel shank2-Deficient Zebrafish Model. International Journal of Molecular Sciences. 24(3):
- Manchanda, A., Bonventre, J.A., Bugel, S.M., Chatterjee, P., Tanguay, R., Johnson, C.P. (2021) Truncation of the otoferlin transmembrane domain alters the development of hair cells and reduces membrane docking. Molecular biology of the cell. 32(14):1293-1305
- Sadamitsu, K., Shigemitsu, L., Suzuki, M., Ito, D., Kashima, M., Hirata, H. (2021) Characterization of zebrafish GABAA receptor subunits. Scientific Reports. 11:6242
- Zhou, J., Liang, W., Wang, J., Chen, J., Liu, D., Wang, X., Wu, Y., Zhang, Q., Shen, D. (2021) An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish. Human molecular genetics. 31(19):3216-3230
- Probst, J., Kölker, S., Okun, J.G., Kumar, A., Gursky, E., Posset, R., Hoffmann, G.F., Peravali, R., Zielonka, M. (2020) Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae. Experimental neurology. 331:113330
- Reyes-Nava, N., Yu, H.C., Coughlin, C.R., Shaikh, T.H., Quintana, A.M. (2020) Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish. Biology Open. 9(4):
- Shen, C., Zhou, Y., Tang, C., He, C., Zuo, Z. (2020) Developmental exposure to mepanipyrim induces locomotor hyperactivity in zebrafish (Danio rerio) larvae. Chemosphere. 256:127106
- Vossen, L.E., Cerveny, D., Österkrans, M., Thörnqvist, P.O., Jutfelt, F., Fick, J., Brodin, T., Winberg, S. (2020) Chronic exposure to oxazepam pollution produces tolerance to anxiolytic effects in zebrafish (Danio rerio). Environmental science & technology. 54(3):1760-1769
- Cao, Y., Yan, H., Yu, G., Su, R. (2019) Flumazenil-insensitive benzodiazepine binding sites in GABAA receptors contribute to benzodiazepine-induced immobility in zebrafish larvae. Life sciences. 239:117033
1 - 10 of 24
Show