Histone-lysine N-methyltransferase SETD2
SETD2 specifically methylates Lysine 36 of histone H3 and is implicated in Huntington disease (PMID: 16118227). SETD2 mRNA levels were found to be consistently decreasing with the increasing tumour stage (PMID: 19698110). SETD2 is reported to regulate p53 and selectively affects transcription of p53-target genes (PMID: 18585004).
| UniprotKB Accession | Q9BYW2 |
|---|---|
| Alternative Name(s) | HIF-1, 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 |
| Writer for PTM/s | H3K36me3 |
| EC number | 2.1.1.43 |
| No. of coding genes | Histone-lysine N-methyltransferase SETD2 is coded by following 1 non-allelic gene/s |
| Gene name | SET domain containing 2 |
| Gene symbol | SETD2 |
| Promoter region (-700 TSS +300) | Get sequence |
| Previous Symbol/s | |
| Aliases | HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A |
| GeneID | 29072 |
| Chromosomal location | 3p21.31 |
| HGNC | 18420 |
| Unigene | Hs.517941 |
| MIM | 612778 |
| RefSeq mRNA | NM_014159.6 |
| RefSeq Protein | NP_054878.5 |
| Disease associations | Cancer: Sporadic clear cell renal cell carcinoma; PMID: 20501857 |
Lysine methyltransferases Histone-lysine N-methyltransferase EZH1, Histone-lysine N-methyltransferase EZH2, Histone-lysine N-methyltransferase MLL, Histone-lysine N-methyltransferase MLL2, Histone-lysine N-methyltransferase MLL3, Histone-lysine N-methyltransferase MLL4, Histone-lysine N-methyltransferase MLL5, Histone-lysine N-methyltransferase NSD3, Histone-lysine N-methyltransferase PRDM9, Histone-lysine N-methyltransferase SETD1A, Histone-lysine N-methyltransferase SETD1B, Histone-lysine N-methyltransferase SETD2, Histone-lysine N-methyltransferase SETD7, Histone-lysine N-methyltransferase SETD8, Histone-lysine N-methyltransferase SETDB1, Histone-lysine N-methyltransferase SETDB2, Histone-lysine N-methyltransferase SETMAR, Histone-lysine N-methyltransferase SUV39H1, Histone-lysine N-methyltransferase SUV39H2, Histone-lysine N-methyltransferase SUV420H1, Histone-lysine N-methyltransferase SUV420H2, Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific, Histone-lysine N-methyltransferase, H3 lysine-79 specific, Histone-lysine N-methyltransferase, H3 lysine-9 specific 3, Histone-lysine N-methyltransferase, H3 lysine-9 specific 5, N-lysine methyltransferase SMYD2, PR domain zinc finger protein 2, Probable histone-lysine N-methyltransferase ASH1L, Probable histone-lysine N-methyltransferase NSD2, SET and MYND domain-containing protein 3