NSMCE2 Chromosome 8
NSE2 SUMO ligase component of SMC5/6 complex
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers MIZ-type|SMC5/6 complex"
Locus Type
gene with protein product
Location
8q24.13
Ensembl
ENSG00000156831
Associated Conditions (1)
Seckel syndrome 10
Key Variants
RS372016316
Conflicting classifications of pathogenicity
Seckel syndrome 10, Seckel syndrome 10
Health Risk
RS780276807
Likely pathogenic
Seckel syndrome 10, Seckel syndrome 10
Health Risk
RS2537449848
Pathogenic
Health Risk
RS2538526878
Pathogenic
Health Risk
RS757613817
Pathogenic
Seckel syndrome 10, Seckel syndrome 10
Health Risk
RS760514663
Pathogenic
Health Risk
RS773917653
Pathogenic
Seckel syndrome 10, Seckel syndrome 10
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372016316 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 10, Seckel syndrome 10 |
| RS780276807 | Health Risk | Likely pathogenic | Seckel syndrome 10, Seckel syndrome 10 |
| RS2537449848 | Health Risk | Pathogenic | — |
| RS2538526878 | Health Risk | Pathogenic | — |
| RS757613817 | Health Risk | Pathogenic | Seckel syndrome 10, Seckel syndrome 10 |
| RS760514663 | Health Risk | Pathogenic | — |
| RS773917653 | Health Risk | Pathogenic | Seckel syndrome 10, Seckel syndrome 10 |