NSMCE2 [The Human Chemical-Genetic Interaction Map Project]

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======= NSMCE2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NSMCE2
  * **<color #00a2e8>Official Name</color>**: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=286053|286053]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96MF7|Q96MF7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NSMCE2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NSMCE2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/617246|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression. {ECO:0000269|PubMed:16055714, ECO:0000269|PubMed:16810316, ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:19502785}.

<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'>
|zf-Nse|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of maintenance of mitotic sister chromatid cohesion|
|positive regulation of maintenance of sister chromatid cohesion|
|Smc5-Smc6 complex|
|regulation of maintenance of mitotic sister chromatid cohesion|
|regulation of maintenance of sister chromatid cohesion|
|positive regulation of mitotic metaphase/anaphase transition|
|positive regulation of mitotic sister chromatid separation|
|positive regulation of sister chromatid cohesion|
|positive regulation of metaphase/anaphase transition of cell cycle|
|positive regulation of chromosome separation|
|telomere maintenance via recombination|
|SUMO transferase activity|
|mitotic recombination|
|positive regulation of mitotic sister chromatid segregation|
|regulation of sister chromatid cohesion|
|positive regulation of chromosome segregation|
|cellular senescence|
|chromosome, telomeric region|
|regulation of mitotic metaphase/anaphase transition|
|regulation of metaphase/anaphase transition of cell cycle|
|positive regulation of mitotic nuclear division|
|regulation of mitotic sister chromatid separation|
|double-strand break repair via nonhomologous end joining|
|regulation of chromosome separation|
|non-recombinational repair|
|cell aging|
|positive regulation of nuclear division|
|protein sumoylation|
|regulation of mitotic sister chromatid segregation|
|positive regulation of mitotic cell cycle phase transition|
|regulation of sister chromatid segregation|
|positive regulation of cell cycle phase transition|
|double-strand break repair via homologous recombination|
|telomere maintenance|
|recombinational repair|
|PML body|
|telomere organization|
|regulation of chromosome segregation|
|positive regulation of mitotic cell cycle|
|regulation of mitotic nuclear division|
|positive regulation of chromosome organization|
|double-strand break repair|
|regulation of nuclear division|
|DNA recombination|
|aging|
|nuclear body|
|positive regulation of cell cycle process|
|peptidyl-lysine modification|
|anatomical structure homeostasis|
|regulation of chromosome organization|
|positive regulation of cell cycle|
|regulation of mitotic cell cycle phase transition|
|regulation of cell cycle phase transition|
|cell division|
|DNA repair|
|positive regulation of organelle organization|
|regulation of mitotic cell cycle|
|DNA metabolic process|
|regulation of cell cycle process|
|protein modification by small protein conjugation|
|cellular response to DNA damage stimulus|
|zinc ion binding|
|peptidyl-amino acid modification|
|protein modification by small protein conjugation or removal|
|chromosome organization|
|regulation of cell cycle|
|positive regulation of cellular component organization|
|regulation of organelle organization|
|cell cycle|
|homeostatic process|
|cellular response to stress|
</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:exp78|Pterostilbene 16μM R02 exp78]]|-1.8|
|[[:results:exp22|MLN-4924 2μM R00 exp22]]|1.76|
|[[:results:exp4|Actinomycin-D 0.01μM R00 exp4]]|1.81|
|[[:results:exp19|Etoposide 1μM R00 exp19]]|2.1|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hars|HARS]]|0.61|
|[[:human genes:n:nsmce1|NSMCE1]]|0.522|
|[[:human genes:a:aars|AARS]]|0.451|
|[[:human genes:s:srp72|SRP72]]|0.434|
|[[:human genes:g:gtf3c2|GTF3C2]]|0.432|
|[[:human genes:o:otud5|OTUD5]]|0.427|
|[[:human genes:c:csnk2b|CSNK2B]]|0.423|
|[[:human genes:c:cars|CARS]]|0.421|
|[[:human genes:n:nars|NARS]]|0.419|
|[[:human genes:t:trmt5|TRMT5]]|0.412|
|[[:human genes:s:smc6|SMC6]]|0.405|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 9/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|1/28|
|blood|0/28|
|bone|1/25|
|breast|3/33|
|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|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|1/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1258
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.18 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NSMCE2 Expression in NALM6 Cells: 4.18'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>