Zebrafish gene: chd2
Human gene: CHD2 (chromodomain helicase DNA binding protein 2)
Homology score: 70%
ClinVar variants: 91
Gene description: Predicted to have ATP binding activity and DNA helicase activity. Involved in chordate embryonic development and locomotion. Predicted to localize to nucleus. Used to study childhood onset epileptic encephalopathy. Human ortholog(s) of this gene implicated in childhood onset epileptic encephalopathy. Orthologous to human CHD2 (chromodomain helicase DNA binding protein 2).
ZFIN link: https://zfin.org/ZDB-GENE-050419-256
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000060687;r=18:24933473-24989580;t=ENSDART00000163449
Zebrafish reference(s): n/a
This gene has 3 transcripts (splice variants).
WT DNA sequence
Mutant DNA sequence
Guide RNA target sites: ATTTAGGTGACACTATAAGTCAGTCGGAGAGCGAGCAGTTTTAGAGCTAGAAATAGCAA
Primers:
Forward primer: GTTATAGCAACTCAGCATCCGAGG
Reverse primer: CGCCAGGTTGTCTTTCTTCCTGAC
WT Protein sequence
N = 98