Zebrafish gene: mef2cb
Human gene: MEF2C (myocyte enhancer factor 2C)
Homology score: 75%
ClinVar variants: 49
Gene description: Predicted to have several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and histone deacetylase binding activity. Involved in heart development and transcription, DNA-templated. Predicted to localize to nuclear chromatin. Is expressed in several structures, including bone element; brain; cardiovascular system; mesoderm; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 20. Orthologous to human MEF2C (myocyte enhancer factor 2C).
ZFIN link: https://zfin.org/ZDB-GENE-040901-7
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000009418;r=5:48179340-48260195;t=ENSDART00000183585
Zebrafish reference(s): n/a
This gene has 9 transcripts (splice variants).
WT DNA sequence (mutation area: exon 6)
Mutant DNA sequence (mutation area: 12 bp deletion in exon 6)
Guide RNA target sites: n/a
Primers:
Forward primer: TCTCGGCTTGTTCATTTAGGGTAC
Reverse primer: TTTACCTGCACTAGGTGGTCTG
WT Protein sequence
N = 91
