KDM5C是抑癌基因，编码蛋白是一个ARID蛋白家族的成员，其通过将组蛋白H3（H3K4）的4号位赖氨酸从转录靶标上除去二甲基基团而充当表观遗传调节器。KDM5C几乎在所有的人类组织广泛表达，包括白细胞中，在脑和骨骼肌中的表达水平最高。KDM5C的缺失在哺乳动物DNA复制中发挥重要作用。此外，KDM5C沉默诱导异常的H3K4ME3表达水平，从而停止DNA复制和S期进展。在2005年，KDM5C基因的突变首先被描述为引起X连锁智力残疾（XLID），并且与一些形式的癌症有关。XLID患者KDM5C突变的发生率约为3%，而该基因的体细胞突变在透明细胞肾癌（CCRCC）中占4%-9%。KDM5C在von Hippel-Lindau (VHL) -/- ccRCC细胞系中的敲除显著增强了异种移植模型中肿瘤的生长，提示KDM5C在该癌症模型中起肿瘤抑制作用。通过siRNA筛选鉴定，KDM5C被鉴定为宫颈癌中人乳头瘤病毒（HPV）E2肿瘤抑制蛋白的介质。

KDM5C gene encodes a member of an ARID protein family that acts as an epigenetic regulator by removing di-tri-methyl groups from lysine 4 of histone H3 (H3K4) on transcriptional targets. KDM5C is ubiquitously expressed in almost all human tissues, including white blood cells, with the highest levels of expression found in the brain and skeletal muscle. Loss of KDM5C exerts an essential role in mammalian DNA replication. Moreover, KDM5C silencing induces aberrant H3K4me3 levels at active origins, thus halting DNA replication and ultimately S phase progression. Mutation of the KDM5C gene was first described as causing X-linked intellectual disability (XLID) in 2005, and has been linked to some forms of cancer. The prevalence of KDM5C mutations in patients with XLID is estimated to be ~3%, and somatic mutations in this gene have been identified in 4-9% of clear cell renal cell carcinoma (ccRCC). Knockdown of KDM5C in von Hippel-Lindau (VHL) -/- ccRCC cells significantly enhanced tumor growth in a xenograft model, suggesting that KDM5C functions as a tumor suppressor in this cancer model. Through siRNA screen, KDM5C was identified as a mediator of the human papillomavirus (HPV) E2 tumor suppressor protein in cervical cancer.

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