Gene Symbol | KMT2D |
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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 |
MLL2 CRISPR/Cas9 KO Plasmid (h) - sc-401659 from Santa Cruz Biotechnology
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MLL2 HDR Plasmid (h) - sc-401659-HDR from Santa Cruz Biotechnology
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MLL2 Double Nickase Plasmid (h) - sc-401659-NIC from Santa Cruz Biotechnology
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MLL2 Double Nickase Plasmid (h2) - sc-401659-NIC-2 from Santa Cruz Biotechnology
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MLL2 CRISPR Activation Plasmid (h) - sc-401659-ACT from Santa Cruz Biotechnology
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MLL2 CRISPR Activation Plasmid (h2) - sc-401659-ACT-2 from Santa Cruz Biotechnology
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MLL2 Lentiviral Activation Particles (h) - sc-401659-LAC from Santa Cruz Biotechnology
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MLL2 Lentiviral Activation Particles (h2) - sc-401659-LAC-2 from Santa Cruz Biotechnology
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MLL2 siRNA (h) - sc-75794 from Santa Cruz Biotechnology
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MLL2 shRNA Plasmid (h) - sc-75794-SH from Santa Cruz Biotechnology
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MLL2 shRNA (h) Lentiviral Particles - sc-75794-V from Santa Cruz Biotechnology
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KMT2D RNAi - H00008085-R01 from Novus Biologicals
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KMT2B RNAi - H00009757-R01 from Novus Biologicals
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MISSION® esiRNA - EHU076961 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN14397 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND14397 from Sigma-Aldrich
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KMT2D siRNA (Human) - CRH5362 from Cohesion Biosciences
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shRNA set against Human MLL2 (NM_003482.3) - SHH342524 from Creative biogene
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KMT2D shRNA Plasmid (Human) - CHH5362 from Cohesion Biosciences
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MLL2 miRNA 3'UTR clone - MiUTR1H-06324 from Creative biogene
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