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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 286053
Gene name NSE2 SUMO ligase component of SMC5/6 complex
Gene symbol NSMCE2
Synonyms (NCBI Gene)
C8orf36MMS21NSE2ZMIZ7
Chromosome 8
Chromosome location 8q24.13
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 protei
SNPs SNP information provided by dbSNP.
3
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.
77
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617246 26513 ENSG00000156831
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Seckel syndrome 10 Likely pathogenic; Pathogenic rs780276807, rs757613817, rs773917653 RCV003991805
RCV000412505
RCV000412587
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Decreased response to growth hormone stimulation test Uncertain significance rs374349288 RCV001093634
Dysmorphic features Uncertain significance rs374349288 RCV001093634
Global developmental delay Uncertain significance rs374349288 RCV001093634
Microcephaly Uncertain significance rs374349288 RCV001093634
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease 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