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FLASH GENE
Symbol NSMCE2 contributors: mct - updated : 06-12-2017
HGNC name non-SMC element 2, MMS21 homolog (S. cerevisiae)
HGNC id 26513
Corresponding disease
SCKL10 Seckel syndrome 10
Location 8q24.13      Physical location : 126.104.082 - 126.379.367
Synonym name
  • homolog of yeast methyl methanesulfonate sensitivity gene 21 (MMS21) / non-SMC element 2 (NSE2)
  • methyl methanesulfonate sensitivity gene 21
  • non-structural maintenance of chromosomes element 2 homolog
  • zinc finger, MIZ-type containing 7
    • Synonym symbol(s) C8orf36, FLJ32440, MMS21, NSE2, ZMIZ7
    DNA
    TYPE functioning gene
    STRUCTURE 275.31 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1225 - 247 - 2005 16055714
    - - 1147 - 247 - 2005 16055714
    - - 1280 - 247 - 2005 16055714
    - - 996 - 157 - 2005 16055714
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Nervousnervecranial nerve  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast Mms21
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • stimulating sumoylation of SMC6 and the DNA repair protein TSNAX
  • SUMO ligase required for DNA repair with SMC5/6 complex for the prevention of DNA damage-induced apoptosis by facilitating DNA repair in cells
  • SMC5 and NSMCE2 are required for chromosome cohesion and mitotic progression
  • depletion of NSMCE2 seems to impair G1-S transition due to lowered E2F1 protein levels and CCNE/CDK2 activity
  • role for NSMCE2 in recovery from DNA damage, suggesting that loss of its function produces dwarfism through reduced tolerance of replicative stress
  • SUMO- and BLM-independent activities of NSMCE2 limit recombination and facilitate segregation
  • NSMCE2 appeared not essential for a proper DNA damage response or cell survival after DSB induction by ionizing irradiation (IR)
  • is an important small ubiquitin-related modifier (SUMO) ligase
  • despite the essential roles of NSMCE2 in somatic cells, chromatin integrity maintenance seems differentially regulated in the germline
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAD21 sumoylation by NSMCE2 promotes sister chromatid homologous recombination (SCR) by antagonizing WAPL at a step after cohesin loading at DSBs and in a way not solely dependent on SMC3 acetylation
  • NDN necdin, MAGED1, MAGEF1 and MAGEL2 bound to PIAS1 but not to NSMCE2 or CBX4
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCKL10
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS