Property Summary

NCBI Gene PubMed Count 22
Grant Count 13
R01 Count 13
Funding $1,299,868.99
PubMed Score 24.79
PubTator Score 12.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (3)

Expression

  Differential Expression (3)

Disease log2 FC p
diabetes mellitus -1.300 0.001
group 3 medulloblastoma 1.100 0.000
acute myeloid leukemia -1.700 0.029

Gene RIF (10)

PMID Text
25245984 our study identified novel PVT1-NSMCE2 and CCDC26-NSMCE2 fusion genes that may play functional roles in leukemia.
25105364 support a role for NSMCE2 in recovery from DNA damage and raise the possibility that loss of its function produces dwarfism through reduced tolerance of replicative stress
22751501 show that the Smc5/6 subunit Mms21 sumoylates multiple lysines of the cohesin subunit Scc1
21550342 Studies indicate that Nse1 may function as a ubiquitin ligase, and is targeted to chromatin through its interaction with the Smc5/6 complex.
20460480 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19549807 Observational study of gene-disease association. (HuGE Navigator)
19502785 MMS21 dependent sumoylation is integral and important to the cohesion mechanism and mitotic progression and that this function appears to be independent of SMC6.
18163389 Observational study of gene-disease association. (HuGE Navigator)
16055714 the human SMC5/6 complex and the SUMO ligase activity of hMMS21 are required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair in human cells

AA Sequence

MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYSMDKAMVEFAT      1 - 70
LDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQC     71 - 140
GLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQKRKKKAYC    141 - 210
PQIGCSHTDIRKSDLIQDEALRRAIENHNKKRHRHSE                                     211 - 247
//

Text Mined References (28)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
25416956 2014 A proteome-scale map of the human interactome network.
25245984 2014 8q24 amplified segments involve novel fusion genes between NSMCE2 and long noncoding RNAs in acute myelogenous leukemia.
25105364 2014 Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22751501 2012 Scc1 sumoylation by Mms21 promotes sister chromatid recombination through counteracting Wapl.
21550342 2011 The Nse2/Mms21 SUMO ligase of the Smc5/6 complex in the maintenance of genome stability.
21269460 2011 Initial characterization of the human central proteome.
20460480 2010 Susceptibility loci associated with prostate cancer progression and mortality.
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