NSMCE2

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]

Description

NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (125091679 - 125367120)

Ensembl ID

ENSG00000156831  (ver. 103.38)

Orthologs

Mouse Nsmce2: ENSMUSG00000059586

UniProt

Q96MF7

neXtProt

NX_Q96MF7

Human splice variants
Mouse splice variants

Protein structure