======= KMT2D =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KMT2D
  * **<color #00a2e8>Official Name</color>**: lysine methyltransferase 2D
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8085|8085]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O14686|O14686]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KMT2D&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KMT2D|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602113|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|FYRN|
|FYRC|
|PHD|
|SET|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
|developmental growth|
|growth|
|regulation of hemopoiesis|
|developmental process involved in reproduction|
|gamete generation|
|chromatin organization|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|peptidyl-amino acid modification|
|positive regulation of cell population proliferation|
|multi-organism reproductive process|
|chromosome organization|
|negative regulation of transcription, DNA-templated|
|positive regulation of transcription by RNA polymerase II|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of RNA metabolic process|
|negative regulation of cellular macromolecule biosynthetic process|
|reproductive process|
|reproduction|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|protein-containing complex assembly|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of cell population proliferation|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of signal transduction|
|regulation of immune system process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

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

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:e:elp6|ELP6]]|0.444|
|[[:human genes:s:srpk1|SRPK1]]|0.431|
|[[:human genes:f:fbxw7|FBXW7]]|0.42|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3328
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KMT2D Expression in NALM6 Cells: 8.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>