Entity Details

Primary name NSMCE3
Entity type gene
Source Source Link

Details

PrimaryID56160
RefseqGeneNG_053143
SymbolNSMCE3
NameNSE3 homolog, SMC5-SMC6 complex component
Chromosome15
Location15q13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsNSE3_HUMAN

GO terms

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GOName
GO:0000781 chromosome, telomeric region
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0030915 Smc5-Smc6 complex
GO:0031398 positive regulation of protein ubiquitination
GO:0034644 cellular response to UV
GO:0040008 regulation of growth
GO:0046983 protein dimerization activity
GO:0071478 cellular response to radiation
GO:0072711 cellular response to hydroxyurea

Diseases

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Disease IDSourceNameDescription
617241 OMIMLung disease, immunodeficiency, and chromosome breakage syndrome (LICS)An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.