KDM4Clysine demethylase 4C
Autism Reports / Total Reports
1 / 1Rare Variants / Common Variants
2 / 0Aliases
KDM4C, GASC1, JHDM3C, JMJD2C, TDRD14CAssociated Syndromes
-Genetic Category
Rare Single Gene MutationChromosome Band
9p24.1Associated Disorders
-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)].
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.
Reports related to KDM4C (1 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) | Yes | - |
Rare Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_gain | Unknown | - | - | 30208311 | Kushima I , et al. (2018) | |
| - | - | copy_number_loss | Unknown | - | - | 30208311 | Kushima I , et al. (2018) |
Common Variants
No common variants reported.
CNVs associated with KDM4C(1 CNVs)
Sort By:
| 9p24.1 | 27 | Deletion-Duplication | 44 / 311 |