General description
SET domain containing 2 (SETD2) is a histone methyltransferase gene and is mapped on human chromosome 3p21.31, a region associated with growth arrest of cancer cells.
Human SETD2/pGEX6P1 (GenBank Accession No. NM_014159), amino acids 1418-1714 with N-terminal GST-tag, MW= 60.9kDa, expressed in an Escherichia coli expression system.
Biochem/physiol Actions
SET domain containing 2 (SETD2) plays a vital role in trimethylation of the histone mark H3K36 (histone 3 lysine 36). Mutation of this tumor suppressor gene (TSG) is associated with the pathogenesis of various cancers including, clear cell renal cell carcinoma (cRCC), breast cancer, lung cancer, acute lymphoblastic leukemia(ALL), and glioma. In addition, SETD2 gene is also involved in the development of Huntington′s disease (HD). SETD2 plays an important role in the transcriptional elongation by maintaining chromatin structure through association with hyperphosphorylated RNA polymerase II (POLR2A). SETD2 interacts with p53 and act as a tumor suppressor in breast cancer cells. SETD2 is implicated in DNA double-strand break (DSB) exclusion and homologous recombination (HR) repair in human cells. SETD2 in HeLa cells alters nucleosome organization via decreasing the recruitment of the FACT (facilitates chromatin transcription) complex to active genes.
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