Probable histone-lysine N-methyltransferase NSD2
NSD2 is shown to enhance transcriptional activation which is mediated by androgen receptors and is implicated in prostate cancers (PMID: 19481544). H3K36 trimethylation mediated by WHSC1 is strongly implicated in Wolf-Hirschhorn syndrome (PMID: 19483677). MMSET is shown to act as a transcription corepressor by complexing with HDAC1 and HDAC2 in multiple myelomas (PMID: 18156491).
| UniprotKB Accession | O96028 | |||||
|---|---|---|---|---|---|---|
| Alternative Name(s) | Multiple myeloma SET domain-containing protein, Nuclear SET domain-containing protein 2, Protein trithorax-5, Wolf-Hirschhorn syndrome candidate 1 protein | |||||
| Writer for PTM/s | H3K36me3, H4K20me1, H4K20me3 | |||||
| EC number | 2.1.1.43 | |||||
| No. of coding genes | Probable histone-lysine N-methyltransferase NSD2 is coded by following 1 non-allelic gene/s | |||||
| Gene name | Wolf-Hirschhorn syndrome candidate 1 | |||||
| Gene symbol | WHSC1 | |||||
| Promoter region (-700 TSS +300) | Get sequence | |||||
| Previous Symbol/s | ||||||
| Aliases | MMSET, NSD2 | |||||
| GeneID | 7468 | |||||
| Chromosomal location | 4p16.3 | |||||
| HGNC | 12766 | |||||
| Unigene | Hs.113876 | |||||
| MIM | 602952 | |||||
| RefSeq mRNA | NM_001042424.2 | NM_007331.1 | NM_133330.2 | NM_133331.2 | NM_133334.2 | NM_133335.3 |
| RefSeq Protein | NP_001035889.1 | NP_015627.1 | NP_579877.1 | NP_579878.1 | NP_579889.1 | NP_579890.1 |
| Disease associations | Neurological disorder: Wolf-Hirschhorn syndrome.; PMID: 19483677 Cancer: Neuroblastoma; PMID: 21527557 Cancer: Multiple; PMID: 21385930 | |||||
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