H3F3A编码蛋白是组蛋白H3.3，其发现于转录因子结合位点和端粒酶中激活转录的基因。H3F3A的突变导致其在其组蛋白尾部的氨基酸取代，并在儿科胶质母细胞瘤（GBM）和小儿弥漫性脑桥脑胶质瘤中是常见的，H3F3A突变还在软骨母细胞瘤和巨细胞瘤中报道过。与其他GBM肿瘤相比，H3F3A突变的胶质母细胞瘤显示出不同的DNA甲基化谱，H3F3A突变似乎与GBM中的IDH1突变互斥。这些突变导致肿瘤发生的确切机制还不清楚，然而，已经提出H3.3突变导致癌基因MYCN的表达量增加。

H3F3A encodes histone H3.3, which is found in actively transcribed genes, transcription factor binding sites and telomeres.Mutations of H3F3A leading to amino acid substitutions at its histone tail are common in pediatric glioblastoma (GBM) and pediatric diffuse pontine glioma and were also reported in chondroblastoma and giant cell tumors.Glioblastoma tumors with H3F3A mutations show a different DNA methylation profile when compared to other GBM tumors and H3F3A mutations seem mutually exclusive with IDH1 mutations in GBM. The exact mechanism by which these mutations lead to tumorigenesis are unknown, however, it has been proposed that H3.3 mutations lead to increased expression of oncogenic MYCN.

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