The Function of SETD2

Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A. H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase. Required during angiogenesis. Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.

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Protein names

Recommended name:

Histone-lysine N-methyltransferase SETD2

Short name:

HIF-1

Alternative name(s):

Huntingtin yeast partner B
Huntingtin-interacting protein 1
HIP-1
Huntingtin-interacting protein B
Lysine N-methyltransferase 3A
SET domain-containing protein 2
hSET2
p231HBP

Top Gene-Substance Interactions

SETD2 Interacts with These Diseases

Substances That Increase SETD2

Substances That Decrease SETD2

Conditions with Increased Gene Activity

Conditions with Decreased Gene Activity

Technical