KMT2A [The Human Chemical-Genetic Interaction Map Project]

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======= KMT2A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KMT2A
  * **<color #00a2e8>Official Name</color>**: lysine methyltransferase 2A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4297|4297]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q03164|Q03164]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KMT2A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KMT2A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/159555|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|SET|
|PHD|
|zf-CXXC|
|FYRC|
|FYRN|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of DNA methylation|
|unmethylated CpG binding|
|regulation of histone H3-K14 acetylation|
|AT DNA binding|
|positive regulation of cellular response to drug|
|regulation of histone H3-K9 acetylation|
|histone H3-K4 trimethylation|
|positive regulation of histone H3-K4 methylation|
|histone methyltransferase activity (H3-K4 specific)|
|lysine-acetylated histone binding|
|embryonic hemopoiesis|
|histone H4-K16 acetylation|
|regulation of DNA methylation|
|regulation of histone H3-K4 methylation|
|peptidyl-lysine trimethylation|
|MLL1 complex|
|positive regulation of response to drug|
|regulation of cellular response to drug|
|histone H3-K4 methylation|
|positive regulation of histone methylation|
|histone methyltransferase complex|
|regulation of megakaryocyte differentiation|
|histone H4 acetylation|
|regulation of histone acetylation|
|regulation of peptidyl-lysine acetylation|
|circadian regulation of gene expression|
|regulation of histone methylation|
|regulation of protein acetylation|
|histone lysine methylation|
|regulation of hematopoietic stem cell differentiation|
|regulation of hematopoietic progenitor cell differentiation|
|peptidyl-lysine methylation|
|positive regulation of histone modification|
|histone methylation|
|regulation of response to drug|
|RNA polymerase II distal enhancer sequence-specific DNA binding|
|positive regulation of chromatin organization|
|positive regulation of transporter activity|
|histone acetylation|
|regulation of stem cell differentiation|
|internal peptidyl-lysine acetylation|
|negative regulation of DNA metabolic process|
|peptidyl-lysine acetylation|
|internal protein amino acid acetylation|
|protein methylation|
|protein alkylation|
|circadian rhythm|
|protein acetylation|
|regulation of histone modification|
|positive regulation of chromosome organization|
|protein acylation|
|regulation of chromatin organization|
|transcription regulatory region DNA binding|
|regulation of myeloid cell differentiation|
|macromolecule methylation|
|rhythmic process|
|regulation of transporter activity|
|methylation|
|peptidyl-lysine modification|
|regulation of chromosome organization|
|regulation of DNA metabolic process|
|histone modification|
|covalent chromatin modification|
|embryonic organ development|
|regulation of hemopoiesis|
|transcription by RNA polymerase II|
|hemopoiesis|
|hematopoietic or lymphoid organ development|
|positive regulation of organelle organization|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|immune system development|
|RNA biosynthetic process|
|DNA-binding transcription factor activity|
|chromatin organization|
|zinc ion binding|
|protein homodimerization activity|
|peptidyl-amino acid modification|
|apoptotic process|
|embryo development|
|positive regulation of transport|
|programmed cell death|
|chromosome organization|
|identical protein binding|
|cell death|
|nucleobase-containing compound biosynthetic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of protein modification process|
|regulation of organelle organization|
|organic cyclic compound biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|positive regulation of transcription, DNA-templated|
|protein-containing complex assembly|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|positive regulation of cellular protein metabolic process|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of immune system process|
|RNA metabolic process|
|positive regulation of protein metabolic process|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|regulation of cell differentiation|
|regulation of protein modification process|
|protein-containing complex subunit organization|
|regulation of transport|
|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|
|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:exp452|Azithromycin 100μM R08 exp452]]|-2.57|
|[[:results:exp508|NN-Dimethylsphingosine 2.5μM R08 exp508]]|-1.98|
|[[:results:exp85|UM0129480 7μM R02 exp85]]|-1.97|
|[[:results:exp48|Mubritinib 0.2μM R01 exp48]]|-1.78|
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|1.89|
|[[:results:exp59|UMK57 1μM R01 exp59]]|1.89|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|1.9|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|2.05|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:s:supt6h|SUPT6H]]|0.446|
|[[:human genes:m:med14|MED14]]|0.417|
|[[:human genes:m:med29|MED29]]|0.417|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 4/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|2/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|1/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|1/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1473
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.85 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KMT2A Expression in NALM6 Cells: 7.85'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>