Gene description for KMT2D
Gene name lysine (K)-specific methyltransferase 2D
Gene symbol KMT2D
Other names/aliases AAD10
ALR
CAGL114
KABUK1
KMS
MLL2
MLL4
TNRC21
Species Homo sapiens
 Database cross references - KMT2D
ExoCarta ExoCarta_8085
Vesiclepedia VP_8085
Entrez Gene 8085
HGNC 7133
MIM 602113
UniProt O14686  
 KMT2D identified in sEVs derived from the following tissue/cell type
Neuroblastoma cells 25944692    
Urine 22418980    
Urine 22418980    
 Gene ontology annotations for KMT2D
Molecular Function
    transcription cis-regulatory region binding GO:0000976 IDA
    DNA binding GO:0003677 NAS
    transcription coactivator activity GO:0003713 IBA
    protein binding GO:0005515 IPI
    histone H3K4 methyltransferase activity GO:0042800 IBA
    histone H3K4 methyltransferase activity GO:0042800 ISS
    histone H3K4 methyltransferase activity GO:0042800 TAS
    metal ion binding GO:0046872 IEA
    histone H3K4 monomethyltransferase activity GO:0140945 IEA
    histone H3K4 trimethyltransferase activity GO:0140999 IEA
Biological Process
    oocyte growth GO:0001555 ISS
    regulation of DNA-templated transcription GO:0006355 NAS
    positive regulation of cell population proliferation GO:0008284 IMP
    heterochromatin formation GO:0031507 ISS
    methylation GO:0032259 IEA
    positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 IMP
    response to estrogen GO:0043627 IDA
    positive regulation of transcription by RNA polymerase II GO:0045944 IBA
    positive regulation of transcription by RNA polymerase II GO:0045944 IMP
    oogenesis GO:0048477 ISS
    beta-catenin-TCF complex assembly GO:1904837 TAS
Subcellular Localization
    nucleus GO:0005634 NAS
    nucleoplasm GO:0005654 TAS
    MLL3/4 complex GO:0044666 IBA
    MLL3/4 complex GO:0044666 IDA
    MLL3/4 complex GO:0044666 IPI
 Experiment description of studies that identified KMT2D in sEVs
1
Experiment ID 224
MISEV standards
EM|AFM
Biophysical techniques
Alix|TSG101|CD63|CD81
Enriched markers
GOLGA2
Negative markers
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 25944692    
Organism Homo sapiens
Experiment description Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes
Authors "Keerthikumar S, Gangoda L, Liem M, Fonseka P, Atukorala I, Ozcitti C, Mechler A, Adda CG, Ang CS, Mathivanan S"
Journal name Oncotarget
Publication year 2015
Sample Neuroblastoma cells
Sample name SH-SY5Y
Isolation/purification methods Differential centrifugation
Ultracentrifugation
OptiPrep density gradient
Flotation density 1.10 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
Western blotting
2
Experiment ID 196
MISEV standards
EM
Biophysical techniques
Alix|TSG101|HSP70|CD9
Enriched markers
Negative markers
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 22418980    
Organism Homo sapiens
Experiment description A multiplex quantitative proteomics strategy for protein biomarker studies in urinary exosomes.
Authors "Raj DA, Fiume I, Capasso G, Pocsfalvi G."
Journal name Kidney Int
Publication year 2012
Sample Urine
Sample name Urine - Normal high density
Isolation/purification methods Differential centrifugation
Sucrose cushion
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
3
Experiment ID 197
MISEV standards
EM
Biophysical techniques
Alix|TSG101|HSP70|CD9
Enriched markers
Negative markers
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 22418980    
Organism Homo sapiens
Experiment description A multiplex quantitative proteomics strategy for protein biomarker studies in urinary exosomes.
Authors "Raj DA, Fiume I, Capasso G, Pocsfalvi G."
Journal name Kidney Int
Publication year 2012
Sample Urine
Sample name Urine - Normal low density
Isolation/purification methods Differential centrifugation
Sucrose cushion
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
 Protein-protein interactions for KMT2D
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 GATA1  
Proximity Label-MS Homo sapiens
2 NCOA6  
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
3 SENP3 26168
Affinity Capture-Western Homo sapiens
4 KMT2C 58508
Affinity Capture-MS Homo sapiens
5 IRF4  
Proximity Label-MS Homo sapiens
6 PAXIP1  
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
7 NFIB  
Proximity Label-MS Homo sapiens
8 FEV  
Proximity Label-MS Homo sapiens
9 LHX2  
Proximity Label-MS Homo sapiens
10 GATA2  
Proximity Label-MS Homo sapiens
11 EN1  
Proximity Label-MS Homo sapiens
12 PAX2  
Proximity Label-MS Homo sapiens
13 HIST1H2BB 3018
Reconstituted Complex Homo sapiens
14 EYA2  
Proximity Label-MS Homo sapiens
15 CHEK2  
Negative Genetic Homo sapiens
16 HIST1H3A 8350
Reconstituted Complex Homo sapiens
Protein-peptide Homo sapiens
Reconstituted Complex Homo sapiens
17 SOX9  
Proximity Label-MS Homo sapiens
18 SOX10  
Proximity Label-MS Homo sapiens
19 ELF4 2000
Proximity Label-MS Homo sapiens
20 MYOD1  
Proximity Label-MS Homo sapiens
21 E2F2 1870
Affinity Capture-Western Homo sapiens
22 DYRK1A 1859
Affinity Capture-MS Homo sapiens
23 KLF8  
Proximity Label-MS Homo sapiens
24 E2F6 1876
Affinity Capture-Western Homo sapiens
25 FBXW7  
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Biochemical Activity Homo sapiens
Affinity Capture-Western Homo sapiens
26 PAX9  
Proximity Label-MS Homo sapiens
27 Setd3  
Affinity Capture-MS Mus musculus
28 ETV4  
Proximity Label-MS Homo sapiens
29 GCM1  
Proximity Label-MS Homo sapiens
30 BOD1L1 259282
Affinity Capture-MS Homo sapiens
31 HCFC2  
Affinity Capture-MS Homo sapiens
32 TEAD1  
Proximity Label-MS Homo sapiens
33 GRWD1 83743
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
34 KLF4  
Proximity Label-MS Homo sapiens
35 ASH2L 9070
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Proximity Label-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
36 LHX4  
Proximity Label-MS Homo sapiens
37 TLX3  
Proximity Label-MS Homo sapiens
38 SETD1A 9739
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
39 WDR5 11091
Affinity Capture-Western Homo sapiens
Co-crystal Structure Homo sapiens
Protein-peptide Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Protein-peptide Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
40 SOX5 6660
Proximity Label-MS Homo sapiens
41 NUP155 9631
Proximity Label-MS Homo sapiens
42 KLF16  
Proximity Label-MS Homo sapiens
43 CXXC1  
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
44 HNF1A  
Proximity Label-MS Homo sapiens
45 S100A2 6273
Affinity Capture-MS Homo sapiens
46 HIST1H4A 8359
Affinity Capture-MS Homo sapiens
Reconstituted Complex Homo sapiens
Reconstituted Complex Homo sapiens
47 KLF15  
Proximity Label-MS Homo sapiens
48 SOX17  
Proximity Label-MS Homo sapiens
49 TBR1  
Proximity Label-MS Homo sapiens
50 NFIX 4784
Proximity Label-MS Homo sapiens
51 GOLGA2 2801
Proximity Label-MS Homo sapiens
52 UBAC2 337867
Affinity Capture-MS Homo sapiens
53 PPARG 5468
Proximity Label-MS Homo sapiens
54 LHX1  
Proximity Label-MS Homo sapiens
55 KDM4B  
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Co-fractionation Homo sapiens
Affinity Capture-Western Homo sapiens
56 NFIA 4774
Proximity Label-MS Homo sapiens
57 YAP1 10413
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
58 GATA3  
Proximity Label-MS Homo sapiens
59 FOXK2  
Affinity Capture-MS Homo sapiens
60 LHX3  
Proximity Label-MS Homo sapiens
61 LHX8  
Proximity Label-MS Homo sapiens
62 PPP1R21 129285
Affinity Capture-MS Homo sapiens
63 PAX8  
Proximity Label-MS Homo sapiens
64 UTY  
Affinity Capture-MS Homo sapiens
65 T  
Proximity Label-MS Homo sapiens
66 CEBPA  
Proximity Label-MS Homo sapiens
67 KDM5A  
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
68 HIST1H2AB 8335
Reconstituted Complex Homo sapiens
69 SOX7  
Proximity Label-MS Homo sapiens
70 WDR82 80335
Affinity Capture-Western Homo sapiens
71 TLX2  
Proximity Label-MS Homo sapiens
72 PAX6  
Proximity Label-MS Homo sapiens
73 PAGR1  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
74 KMT2A  
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
75 HIST2H3C 126961
Biochemical Activity Homo sapiens
76 Wdr5  
Affinity Capture-MS Mus musculus
77 E2F5  
Affinity Capture-Western Homo sapiens
78 CTNNB1 1499
Reconstituted Complex Homo sapiens
Reconstituted Complex Homo sapiens
79 HOXB2  
Proximity Label-MS Homo sapiens
80 HCFC1 3054
Affinity Capture-MS Homo sapiens
81 FOXI1  
Proximity Label-MS Homo sapiens
82 CUL3 8452
Affinity Capture-MS Homo sapiens
83 NR3C1 2908
Proximity Label-MS Homo sapiens
Proximity Label-MS Homo sapiens
Affinity Capture-Western Homo sapiens
84 KDM6A  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
85 FOXL1  
Proximity Label-MS Homo sapiens
86 EEF1B2 1933
Co-fractionation Homo sapiens
87 POLR2A 5430
Reconstituted Complex Homo sapiens
88 Paxip1  
Affinity Capture-MS Mus musculus
89 SOX15  
Proximity Label-MS Homo sapiens
90 SMAD1 4086
Two-hybrid Homo sapiens
91 HNF4A  
Proximity Label-MS Homo sapiens
92 FOS 2353
Proximity Label-MS Homo sapiens
93 ETV5  
Proximity Label-MS Homo sapiens
94 RPA3 6119
Proximity Label-MS Homo sapiens
95 SMAD9  
Two-hybrid Homo sapiens
96 IRF8  
Proximity Label-MS Homo sapiens
97 ASF1A 25842
Proximity Label-MS Homo sapiens
98 ETS1  
Proximity Label-MS Homo sapiens
99 NUP35 129401
Proximity Label-MS Homo sapiens
100 PYGO2  
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
101 RBBP5 5929
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
102 MYB  
Proximity Label-MS Homo sapiens
103 SOX2  
Proximity Label-MS Homo sapiens
104 STAT4  
Proximity Label-MS Homo sapiens
105 TLX1  
Proximity Label-MS Homo sapiens
106 RELA 5970
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
107 RBM45  
Affinity Capture-MS Homo sapiens
108 TP53 7157
Negative Genetic Homo sapiens
109 ELF5  
Proximity Label-MS Homo sapiens
110 SRRM1 10250
Affinity Capture-MS Homo sapiens
111 MAX  
Co-fractionation Homo sapiens
112 KMT2B  
Affinity Capture-MS Homo sapiens
113 MEN1 4221
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
114 KLF3  
Proximity Label-MS Homo sapiens
115 CREBBP  
Affinity Capture-Western Homo sapiens
Biochemical Activity Homo sapiens
Affinity Capture-Western Homo sapiens
116 MEF2D  
Affinity Capture-Western Homo sapiens
117 BUB3 9184
Affinity Capture-MS Homo sapiens
118 DDX58 23586
Affinity Capture-RNA Homo sapiens
119 MKI67  
Affinity Capture-MS Homo sapiens
120 SETD1B 23067
Affinity Capture-MS Homo sapiens
121 ESR1  
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
122 KLF5  
Proximity Label-MS Homo sapiens
123 E2F3  
Affinity Capture-Western Homo sapiens
124 PAX7  
Proximity Label-MS Homo sapiens
125 TRIM37  
Proximity Label-MS Homo sapiens
126 Cdc6 23834
Affinity Capture-MS Mus musculus
127 ERG  
Proximity Label-MS Homo sapiens
128 HNF1B  
Proximity Label-MS Homo sapiens
129 NFIC 4782
Proximity Label-MS Homo sapiens
130 AR 367
Proximity Label-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Proximity Label-MS Homo sapiens
131 SP7  
Proximity Label-MS Homo sapiens
132 DPY30 84661
Affinity Capture-MS Homo sapiens
133 EP300 2033
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
134 NHLH1  
Proximity Label-MS Homo sapiens
View the network image/svg+xml
 Pathways in which KMT2D is involved
PathwayEvidenceSource
Activation of anterior HOX genes in hindbrain development during early embryogenesis IEA Reactome
Activation of HOX genes during differentiation IEA Reactome
Chromatin modifying enzymes TAS Reactome
Chromatin organization TAS Reactome
Deactivation of the beta-catenin transactivating complex TAS Reactome
Developmental Biology IEA Reactome
Epigenetic regulation by WDR5-containing histone modifying complexes TAS Reactome
Epigenetic regulation by WDR5-containing histone modifying complexes IEA Reactome
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes IEA Reactome
Epigenetic regulation of gene expression TAS Reactome
Epigenetic regulation of gene expression IEA Reactome
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes TAS Reactome
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes IEA Reactome
Formation of the beta-catenin:TCF transactivating complex TAS Reactome
Formation of WDR5-containing histone-modifying complexes TAS Reactome
Gene expression (Transcription) TAS Reactome
Gene expression (Transcription) IEA Reactome
Generic Transcription Pathway TAS Reactome
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis IEA Reactome
PKMTs methylate histone lysines TAS Reactome
RNA Polymerase II Transcription TAS Reactome
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function TAS Reactome
Signal Transduction TAS Reactome
Signaling by WNT TAS Reactome
TCF dependent signaling in response to WNT TAS Reactome
Transcriptional regulation by RUNX1 TAS Reactome





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