Gene: NSMCE2

Alternate names for this Gene: C8orf36|MMS21|NSE2|ZMIZ7

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.13

Description of this Gene: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase

Type of Gene: protein-coding

rs2891677 in NSMCE2 gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs16900452 in NSMCE2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4466418 in NSMCE2 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs112772376 in NSMCE2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs112772376 in NSMCE2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs201447509 in NSMCE2 gene and Schizophrenia PMID 27846195 2017 Genome-wide association study of paliperidone efficacy.

rs11778726 in NSMCE2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.