Aliases: GASC1, JHDM3C, JMJD2C, TDRD14C
Chromosome No: 9
Chromosome Band: 9p24.1
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 13
Evidence score: 2
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Relevance to Autism
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)]. In a follow-up CNV analysis in a Japanese sample set of 2,605 schizophrenia cases, 1,141 ASD cases, and 2,310 controls, Kato et al., 2020 found evidence for significant associations between CNVs affecting KDM4C and ASD (p = 0.04) and schizophrenia (p=0.003).
Molecular Function
This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation.
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