Zebrafish gene: cntnap2b
Human gene: CNTNAP2 (contactin associated protein 2)
Homology score: 58%
ClinVar variants: 54
Gene description: Predicted to be involved in protein localization to juxtaparanode region of axon. Predicted to localize to integral component of membrane. Is expressed in telencephalon. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2).
ZFIN link: https://zfin.org/ZDB-GENE-070912-26
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000074558;r=2:50278516-50372467;t=ENSDART00000108900
Zebrafish reference(s): Hoffman, E.J., et al., Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, <em>CNTNAP2</em>. Neuron. 89(4): p. 725-733.
This gene has 2 transcripts (splice variants).
WT DNA sequence (mutation area: exon 2)
Mutant DNA sequence (mutation area: coming soon)
Guide RNA target sites: taatacgactcactataGGGCTGGTGAAGGCGCTGTAgttttagagctagaa
Primers:
Forward primer: CCAGAGAGGTGTGATGAGGTG
Reverse primer: GCATGTTCTCACCTACTCTCC
WT Protein sequence
N = 84
