KMT2D

Gene Information

Official Symbol: KMT2D
Official Name: lysine methyltransferase 2D
Aliases and Previous Symbols: N/A
Entrez ID: 8085
UniProt: O14686
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
Taxol 0.004μM R03 exp103	-2.9
Quercetin 20μM R08 exp517	-2.59
Ribavirin 10 to 15μM on day4 R04 exp160	-2.55
ABT-702 5μM plus Deferoxamine 11μM R07 exp321	-2.3
3-Bromopyruvate 7μM R04 exp175	-1.92
Cryptotanshinone 12μM R05 exp227	-1.86
Nicotinamide Riboside 100μM R03 exp139	-1.81
Fas-L 44ng/ml R08 exp482	-1.73
proTAME 5μM R04 exp187	-1.73
GSK591 2.6μM R03 exp128	-1.72
Combretastatin A4 0.002 to 0.003μM day4 R04 exp179	-1.7
Nicotinamide 2000μM R01 exp50	1.7
Rapamycin 1μM R00 exp29	1.73
DABN racemic mixture R03 exp93	1.74
Cytochalasin-B 5μM R07 exp349	1.76
Vitamin-D3 40μM R08 exp536	1.81
Tubastatin-A 2.5μM R07 exp417	1.85
MLN-4924 2μM R00 exp22	1.86
Hypoxia 5%O2 R04 exp191	1.88
Mitomycin-C 0.06μM R08 exp503	1.88
UM0011500 10μM R05 exp246	1.88
Pomalidomide 20μM R07 exp391	1.89
CB-5083 0.4μM R08 exp468	1.92
NMS-873 0.07μM R07 exp380	1.93
Rotenone 20μM R00 exp34	1.95
Mubritinib 0.2μM R01 exp48	1.96
Lapatinib 5μM R01 exp47	1.97
Radicicol 0.16μM R05 exp242	1.98
UM131593 0.1μM R01 exp58	1.99
CAY10603 0.55μM R08 exp467	2
Trientine 500μM R08 exp534	2
Azithromycin 100μM R08 exp452	2.01
Q15 2.7μM R02 exp79	2.01
ABT-702 5μM plus CoCl2 18μM R07 exp320	2.04
Geldanamycin 0.015 to 0.05μM on day4 R07 exp317	2.05
ML-792 0.2μM R08 exp505	2.05
Phenformin 20μM R05 exp212	2.07
Amiloride 100μM R08 exp447	2.19
CR131-b 0.005μM R08 exp474	2.2
Salubrinal 20μM R07 exp399	2.23
Bleomycin 5μM R08 exp459	2.28
BVD-523 15μM R02 exp67	2.29
∆-9-Tetrahydrocannabinol 30μM R08 exp445	2.29
Tanespimycin 14μM R08 exp527	2.3
CB-839 10μM R05 exp224	2.34
GW501516 25μM R06 exp285	2.34
ETC-159 50μM R08 exp480	2.35
Hippuristanol 0.12μM R08 exp489 no dilution day6	2.39
LY2090314 0.003μM R08 exp499	2.41
Tunicamycin 0.04 to 0.075μM on day4 R07 exp419	2.44
Rotenone 0.07μM R08 exp431	2.48
Hippuristanol 0.12μM R08 exp488	2.5
iCRT14 30μM R08 exp492	2.53
JQ1 0.8μM R08 exp435	2.61
PU-H71 1μM R08 exp515	2.62
LY2090314 0.003μM R08 exp500 no dilution day6	2.64
Milciclib 2μM R08 exp502	2.66
Rapamycin 10μM R00 exp30	2.71
Thimerosal 0.85μM R08 exp529	2.77
Betulinic acid 10 to 15μM on day4 R05 exp222	2.86
Bisphenol A 100μM R06 exp269	2.93
Cannabidiol 20μM R08 exp466	3.12
Disulfiram 4.3μM R06 exp281	3.13
THZ1 0.06μM R08 exp531	3.16
Arsenic trioxide 60μM R08 exp449	3.25
Staurosporine 0.02μM R08 exp524	3.36
EPZ-5676 30μM R05 exp233	3.82
MS023 2μM R03 exp134	3.97
Lead acetate 2000μM R08 exp497	4.23
SNS-032 15μM R08 exp443	4.44
Lead acetate 2000μM R08 exp498 no dilution day6	4.56
MS023 7μM R03 exp135	4.6
Ethanol 0.01 R05 exp234	5.66

Global Fraction of Cell Lines Where Essential: 39/726

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	1/28
blood	6/28
bone	0/25
breast	5/33
central nervous system	2/56
cervix	0/4
colorectal	2/17
esophagus	0/13
fibroblast	0/1
gastric	2/15
kidney	2/21
liver	3/20
lung	2/75
lymphocyte	0/14
ovary	1/26
pancreas	2/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	1/1
skin	0/24
soft tissue	0/7
thyroid	0/2
upper aerodigestive	1/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 3328
Expression level (log2 read counts): 8.4

Expression Distribution

Gene	Correlation
ELP6	0.444
SRPK1	0.431
FBXW7	0.42

FYRN
FYRC
PHD
SET

oocyte growth
positive regulation of intracellular estrogen receptor signaling pathway
MLL3/4 complex
positive regulation of intracellular steroid hormone receptor signaling pathway
histone methyltransferase activity (H3-K4 specific)
beta-catenin-TCF complex assembly
histone H3-K4 methylation
oocyte development
regulation of intracellular estrogen receptor signaling pathway
histone methyltransferase complex
oocyte differentiation
regulation of megakaryocyte differentiation
chromatin organization involved in negative regulation of transcription
chromatin silencing
chromatin organization involved in regulation of transcription
histone lysine methylation
response to estrogen
regulation of intracellular steroid hormone receptor signaling pathway
oogenesis
negative regulation of gene expression, epigenetic
developmental cell growth
peptidyl-lysine methylation
cell growth
histone methylation
female gamete generation
histone binding
protein alkylation
protein methylation
gene silencing
transcription regulatory region DNA binding
regulation of myeloid cell differentiation
regulation of gene expression, epigenetic
macromolecule methylation
germ cell development
transcription coactivator activity
methylation
peptidyl-lysine modification
cellular process involved in reproduction in multicellular organism
histone modification
covalent chromatin modification