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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NSMCE2
NSE2 SUMO ligase component of SMC5/6 complex
Chromosome 8 · 8q24.13
NCBI Gene: 286053Ensembl: ENSG00000156831.10HGNC: HGNC:26513UniProt: A0A087WTZ8
58PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
double-strand break repair via nonhomologous end joiningprotein bindingpositive regulation of mitotic metaphase/anaphase transitioncellular senescenceSeckel syndrome 10Seckel syndromemicrocephalic primordial dwarfism-insulin resistance syndromeneurodegenerative disease
✦AI Summary

NSMCE2 is an E3 SUMO-protein ligase component of the SMC5-SMC6 complex that mediates protein sumoylation to regulate DNA repair and chr8 stability. The complex functions in DNA double-strand break repair by homologous recombination 12 and promotes sister chr8 cohesion by recruiting cohesin complexes to breaks 1. NSMCE2 catalyzes sumoylation of shelterin complex components and other substrates including SMC6L1, RAD51AP1, and cohesin subunits 34, with ligase activity required for preventing DNA damage-induced apoptosis and facilitating telomere maintenance via recombination in ALT cells 3. Clinically, NSMCE2 hypomorphic mutations cause Seckel syndrome 10 (primordial dwarfism with insulin resistance) 5, with patient cells showing increased chr8 aberrations and impaired recovery from replication stress 5. NSMCE2 deletion phenocopies Bloom syndrome characteristics including micronuclei accumulation and elevated recombination 6. In cancer, NSMCE2 is upregulated via super-enhancers in breast cancer, correlating with poor prognosis and chemotherapy resistance 7, while elevated expression in hepatocellular carcinoma promotes tumor development through SUMOylation-dependent mechanisms 8. Unexpectedly, NSMCE2's tumor-suppressive function in mice operates independently of SUMO ligase activity 6.

Sources cited
1
NSMCE2 is an E3 SUMO ligase in SMC5-SMC6 complex involved in DNA double-strand break repair by homologous recombination
PMID: 16055714
2
SMC5-SMC6 complex promotes sister chromatid homologous recombination by recruiting cohesin complex to double-strand breaks
PMID: 16810316
3
NSMCE2 mediates sumoylation of shelterin complex components and is required for telomere maintenance via recombination in ALT cells; SUMO ligase activity prevents DNA damage-induced apoptosis
PMID: 17589526
4
NSMCE2 acts as E3 ligase mediating SUMO attachment to multiple proteins including shelterin and cohesin components
PMID: 31400850
5
NSMCE2 hypomorphic mutations cause primordial dwarfism and insulin resistance; patient cells show increased micronuclei and impaired DNA synthesis recovery
PMID: 25105364
6
NSMCE2 suppresses cancer and aging in mice; deletion phenocopies Bloom syndrome with increased recombination and micronuclei
PMID: 26443207
7
NSMCE2 is super-enhancer-regulated and upregulated in breast cancer, correlating with poor prognosis and chemotherapy resistance
PMID: 36224576
8
NSMCE2 promotes hepatocellular carcinoma by SUMOylating PPARα, reducing its degradation and activating the PPARα-CYP7A1 axis
PMID: 40318278
Disease Associationsⓘ21
Seckel syndrome 10Open Targets
0.53Moderate
Seckel syndromeOpen Targets
0.46Moderate
microcephalic primordial dwarfism-insulin resistance syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
prostate carcinomaOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.26Weak
neuroendocrine neoplasmOpen Targets
0.26Weak
atrial fibrillationOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
self-injurious ideationOpen Targets
0.25Weak
musculoskeletal system diseaseOpen Targets
0.22Weak
spondylolisthesisOpen Targets
0.22Weak
hereditary spastic paraplegia 8Open Targets
0.15Weak
Oral ulcerOpen Targets
0.12Weak
microcephalyOpen Targets
0.12Weak
Decreased response to growth hormone stimulation testOpen Targets
0.12Weak
Global developmental delayOpen Targets
0.12Weak
isolated growth hormone deficiency type IBOpen Targets
0.12Weak
Short statureOpen Targets
0.12Weak
breast cancerOpen Targets
0.08Suggestive
Seckel syndrome 10UniProt
Pathogenic Variants7
NM_173685.4(NSMCE2):c.346del (p.Ser116fs)Pathogenic
Seckel syndrome 10|not provided
★★☆☆2025→ Residue 116
NM_173685.4(NSMCE2):c.25del (p.Ser9fs)Pathogenic
not provided
★☆☆☆2025→ Residue 9
NM_173685.4(NSMCE2):c.265-1G>ALikely pathogenic
Seckel syndrome 10
★☆☆☆2024
NM_173685.4(NSMCE2):c.20C>G (p.Ser7Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 7
NM_173685.4(NSMCE2):c.466_470del (p.Glu156fs)Pathogenic
not provided
★☆☆☆2022→ Residue 156
NM_173685.4(NSMCE2):c.394C>T (p.Gln132Ter)Pathogenic
not provided
★☆☆☆2019→ Residue 132
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs)Pathogenic
Seckel syndrome 10
☆☆☆☆2016→ Residue 234
View on ClinVar ↗
Related Genes
TOP3AProtein interaction100%SUMO2Protein interaction100%RAD52Protein interaction99%RAD51Protein interaction97%SMC3Protein interaction88%SUMO4Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
94%
Brain
79%
Lung
65%
Ovary
62%
Liver
46%
Gene Interaction Network
Click a node to explore
NSMCE2TOP3ASUMO2RAD52RAD51SMC3SUMO4
PROTEIN STRUCTURE
Preparing viewer…
PDB2YU4 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.52Intermediate
Observed/Expected LoF0.24 [0.08–1.11]
RankingsWhere NSMCE2 stands among ~20K protein-coding genes
  • #7,899of 20,598
    Most Researched58
  • #3,215of 5,498
    Most Pathogenic Variants7
  • #11,420of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedNSMCE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
PMID: 25105364
J Clin Invest · 2014
1.00
2
NSMCE2, a novel super-enhancer-regulated gene, is linked to poor prognosis and therapy resistance in breast cancer.
PMID: 36224576
BMC Cancer · 2022
0.90
3
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma.
PMID: 36126360
Cancer Genet · 2022
0.80
4
NSMCE2 promotes the occurrence and development of HCC by regulating the SUMOylation of PPARα.
PMID: 40318278
Int Immunopharmacol · 2025
0.70
5
NSMCE2 suppresses cancer and aging in mice independently of its SUMO ligase activity.
PMID: 26443207
EMBO J · 2015
0.60