| ZFIN ID: ZDB-GENE-091118-65 |
| Gene Name: | gamma-aminobutyric acid type A receptor subunit gamma2 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene Symbol: | gabrg2 Nomenclature History |
{{control.fieldName}} Edit
Attributions
|
||||||||||||
| Previous Name: | si:ch211-145n14.1 | |||||||||||||
Add new Alias
Attributions for Alias: {{control.newAlias}}
Delete Alias:(Including Attributions) |
||||||||||||||
| Gene Type: | protein_coding_gene | |||||||||||||
| Location: | Chr: 21 Mapping Details/Browsers | |||||||||||||
| Description: | Contributes to GABA-gated chloride ion channel activity. Involved in protein heterotrimerization. Predicted to localize to several cellular components, including GABA-A receptor complex; dendrite membrane; and postsynapse. Is expressed in central nervous system and eye. Human ortholog(s) of this gene implicated in childhood absence epilepsy; early infantile epileptic encephalopathy; and familial febrile seizures 8. Orthologous to human GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). | |||||||||||||
| Genome Resources: | Alliance (1), Ensembl(GRCz11):ENSDARG00000053665 (2) | |||||||||||||
| All Expression Data: | 3 figures from 3 publications |
| Wild-type Stages, Structures: | Larval:Days 7-13 (168.0h-14d, 4.5mm, 8 teeth) to Adult (90d-730d, breeding adult) |
MUTATIONS AND SEQUENCE TARGETING REAGENTS
| Allele | Type | Localization | Consequence | Mutagen | Suppliers |
|---|---|---|---|---|---|
| la028368Tg | Transgenic Insertion | Unknown | Unknown | DNA |
|
| sa17984 | Point Mutation | Unknown | Splice Site | ENU |
|
| sa24028 | Point Mutation | Unknown | Splice Site | ENU |
|
| sa32358 | Point Mutation | Unknown | Premature Stop | ENU |
|
| udm302 | Indel | Unknown | Unknown | CRISPR |
Sequence Targeting Reagents
| Targeting Reagent | Created Alleles | Publications |
|---|---|---|
| CRISPR1-gabrg2 | 1 |
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial febrile seizures 8 | Alliance | Epilepsy, generalized, with febrile seizures plus, type 3 | 607681 |
| Febrile seizures, familial, 8 | 607681 | ||
| Epileptic encephalopathy, early infantile, 74 | 618396 |
GENE ONTOLOGY
| Ontology | GO Term |
|---|---|
| Biological Process | protein heterotrimerization (more) |
| Cellular Component | integral component of membrane (more) |
| Molecular Function | CONTRIBUTES_TO GABA-gated chloride ion channel activity (more) |
| Type | Name | Length (nt) | Analysis | |
|---|---|---|---|---|
| mRNA |
gabrg2-201
(1)
|
1381 |
Select Tool
|
| Browsers: Ensembl, ZFIN |
INTERACTIONS AND PATHWAYS
ANTIBODIES
No data available
PLASMIDS
No data available
CONSTRUCTS WITH SEQUENCES FROM gabrg2
No data available
SEQUENCE INFORMATION
| Type | Accession # | Length (nt/aa) | Analysis |
|---|---|---|---|
| Genomic | GenBank:CR847531 (1) | 150363 nt | |
| Polypeptide | UniProtKB:F1RDP2 (1) | 477 aa |
Select Tool
|
ORTHOLOGY for gabrg2 (
Chr:
21
)
CITATIONS (30)