Zebrafish gene: gabrg2
Human gene: GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2)
Homology score: 83%
ClinVar variants: 38
Gene 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).
ZFIN link: https://zfin.org/ZDB-GENE-091118-65
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000053665;r=21:41903760-42007213;t=ENSDART00000092821
Zebrafish reference(s): n/a
This gene has 4 transcripts (splice variants).
WT DNA sequence
Mutant DNA sequence
Guide RNA target sites: *taatacgactcactataGGTTTGACTATAAAGAGAAGgttttagagctagaa
Primers:
Forward primer: CCCCTTTTATCCGAGTTTACTG
Reverse primer: ATGTCCGTATGGATCACAGTG
WT Protein sequence
N = 90
