| Gene Symbol |
KMT2D
|
| Entrez Gene |
8085
|
| Alt Symbol |
AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lysine (K)-specific methyltransferase 2D
|
| Other Description |
ALL1-related protein|Kabuki make-up syndrome|Kabuki mental retardation syndrome|histone-lysine N-methyltransferase 2D|histone-lysine N-methyltransferase MLL2|lysine N-methyltransferase 2D|myeloid/lymphoid or mixed-lineage leukemia 2|trinucleotide repeat containing 21
|
| Swissprots |
O14686 O14687
|
| Accessions |
EAW58034 EAW58035 EAW58036 O14686 AB209494 BAD92731 AF010403 AAC51734 AF010404 AAC51735 AL359940 AW997729 BC039197 AAH39197 BC040663 BF739070 BF876885 BF993837 BI031059 BX956541 CR749712 U80756 AAB91448 X85325 Y08267 CAA69593 XM_005269162 XP_005269219 XM_006719614 XP_006719677 XM_006719616 XP_006719679 XM_011538770 XP_011537072 XM_011538771 XP_011537073 XM_011538772 XP_011537074 XM_011538773 XP_011537075 XM_011538774 XP_011537076 XM_011538775 XP_011537077 XM_011538776 XP_011537078 XR_944740 NM_003482 NP_003473
|
| Function |
Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. {ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}.
|
| Subcellular Location |
Nucleus {ECO:0000305}.
|
| Tissue Specificity |
Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
|
| Top Pathways |
Lysine degradation
|