| Gene Symbol |
KMT2B
|
| Entrez Gene |
9757
|
| Alt Symbol |
CXXC10, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lysine (K)-specific methyltransferase 2B
|
| Other Description |
WW domain binding protein 7|histone-lysine N-methyltransferase 2B|histone-lysine N-methyltransferase MLL4|mixed lineage leukemia gene homolog 2|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4|myeloid/lymphoid or mixed-lineage leukemia protein 4|trithorax homologue 2
|
| Swissprots |
Q9Y669 Q96IP3 Q96GP2 O95836 Q9UMN6 Q9UK25 O15022 Q9Y668
|
| Accessions |
Q9UMN6 AB002302 BAA20763 AF104918 AAD17932 AF105279 AAD26113 AF105280 AAD26112 AF186605 AAD56420 AJ007041 CAB45385 BC007353 AAH07353 BC009337 AAH09337 BC026861 BM967067 XM_011527561 XP_011525863 XM_011527562 XP_011525864 XM_011527563 XP_011525865 XR_935878 NM_014727 NP_055542
|
| Function |
Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation. {ECO:0000269|PubMed:17707229}.
|
| Subcellular Location |
Nucleus {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas.
|
| Top Pathways |
Lysine degradation
|