NSMCE2, Official Symbol NSMCE2provided by HGNC Official Full Name NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligaseprovided by HGNC Primary source HGNC:HGNC:26513 See related Ensembl:ENSG00000156831 MIM:617246; AllianceGenome:HGNC:26513 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NSE2; MMS21; ZMIZ7; C8orf36 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 2.5), lymph node (RPKM 2.3) and 25 other tissues See more Orthologs mouse all