NSMCE2 (NSE2 SUMO ligase component of SMC5/6 complex)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
286053
Gene name Gene Name - the full gene name approved by the HGNC.
NSE2 SUMO ligase component of SMC5/6 complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NSMCE2
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf36, MMS21, NSE2, ZMIZ7
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 protei
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs757613817 T>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs760514663 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs773917653 ->AGGG Pathogenic Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(77)
miRTarBase ID miRNA Experiments Reference
MIRT677444 hsa-miR-552-3p HITS-CLIP 23824327
MIRT677443 hsa-miR-3159 HITS-CLIP 23824327
MIRT677442 hsa-miR-6504-3p HITS-CLIP 23824327
MIRT677441 hsa-miR-764 HITS-CLIP 23824327
MIRT677440 hsa-miR-4740-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
GO ID Ontology Definition Evidence Reference
GO:0000722 Process Telomere maintenance via recombination IMP 17589526
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 16810316
GO:0000724 Process Double-strand break repair via homologous recombination NAS 16810316
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617246 26513 ENSG00000156831
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96MF7
Protein name E3 SUMO-protein ligase NSE2 (EC 2.3.2.-) (E3 SUMO-protein transferase NSE2) (MMS21 homolog) (hMMS21) (Non-structural maintenance of chromosomes element 2 homolog) (Non-SMC element 2 homolog)
Protein function E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination (PubMed:16055714, PubMed:16810316). Is not be required for the stability of the complex (PubMed:16055714,
PDB 2YU4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11789 zf-Nse 156 → 216 Zinc-finger of the MIZ type in Nse subunit Domain
Sequence 
MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYS
MDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADF
QNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPV
KNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHTDIRKSDLIQDEALRRAIENHNK
KRHRHSE
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    SUMOylation of DNA damage response and repair proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Seckel Syndrome seckel syndrome 10 rs757613817, rs773917653 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome microcephalic primordial dwarfism-insulin resistance syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bantu siderosis Associate 30654714
Breast Neoplasms Associate 36224576
Calcinosis Cutis Associate 30654714
Cap Myopathy Associate 22234922
Colorectal Neoplasms Associate 19520795
Leukemia Associate 25245984
Leukemia Myeloid Acute Associate 25245984
Prostatic Neoplasms Associate 17978284, 22234922
Thyroid Neoplasms Associate 30654714
Urinary Bladder Neoplasms Associate 21051319