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Aliases for NSMCE2 Gene

Aliases for NSMCE2 Gene

  • Non-SMC Element 2, MMS21 Homolog (S. Cerevisiae) 2 3
  • Non-Structural Maintenance Of Chromosomes Element 2 Homolog 3 4
  • Non-SMC Element 2 Homolog 3 4
  • MMS21 Homolog 3 4
  • C8orf36 3 4
  • HMMS21 3 4
  • MMS21 3 4
  • Non-SMC Element 2 Homolog (MMS21, S. Cerevisiae) 2
  • Methyl Methanesulfonate Sensitivity Gene 21 3
  • Chromosome 8 Open Reading Frame 36 2
  • Zinc Finger, MIZ-Type Containing 7 3
  • E3 SUMO-Protein Ligase NSE2 3
  • MIZ-Type Containing 7 2
  • Zinc Finger 2
  • EC 6.3.2.- 4
  • EC 6.3.2 64
  • ZMIZ7 3
  • NSE2 3

External Ids for NSMCE2 Gene

Previous Symbols for NSMCE2 Gene

  • C8orf36

Summaries for NSMCE2 Gene

GeneCards Summary for NSMCE2 Gene

NSMCE2 (Non-SMC Element 2, MMS21 Homolog (S. Cerevisiae)) is a Protein Coding gene. GO annotations related to this gene include SUMO transferase activity.

UniProtKB/Swiss-Prot for NSMCE2 Gene

  • E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMCE2 Gene

Genomics for NSMCE2 Gene

Genomic Location for NSMCE2 Gene

Start:
125,091,679 bp from pter
End:
125,367,125 bp from pter
Size:
275,447 bases
Orientation:
Plus strand

Genomic View for NSMCE2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSMCE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMCE2 Gene

Regulatory Elements for NSMCE2 Gene

Proteins for NSMCE2 Gene

  • Protein details for NSMCE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MF7-NSE2_HUMAN
    Recommended name:
    E3 SUMO-protein ligase NSE2
    Protein Accession:
    Q96MF7
    Secondary Accessions:
    • Q8N549

    Protein attributes for NSMCE2 Gene

    Size:
    247 amino acids
    Molecular mass:
    27932 Da
    Quaternary structure:
    • Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2.

    Three dimensional structures from OCA and Proteopedia for NSMCE2 Gene

neXtProt entry for NSMCE2 Gene

Proteomics data for NSMCE2 Gene at MOPED

Selected DME Specific Peptides for NSMCE2 Gene

Post-translational modifications for NSMCE2 Gene

  • Sumoylated, possibly via autosumoylation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys80, Lys114, Lys125, and Lys130

Domains for NSMCE2 Gene

Gene Families for NSMCE2 Gene

HGNC:
  • ZMIZ :Zinc fingers, MIZ-type

Protein Domains for NSMCE2 Gene

UniProtKB/Swiss-Prot:

NSE2_HUMAN
Family:
  • Belongs to the NSE2 family.:
    • Q96MF7
Similarity:
  • Contains 1 SP-RING-type zinc finger.:
    • Q96MF7
genes like me logo Genes that share domains with NSMCE2: view

Function for NSMCE2 Gene

Molecular function for NSMCE2 Gene

UniProtKB/Swiss-Prot Function: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression.

Enzyme Numbers (IUBMB) for NSMCE2 Gene

Gene Ontology (GO) - Molecular Function for NSMCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity --
GO:0005515 protein binding IPI 18086888
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0019789 SUMO transferase activity IDA 17589526
genes like me logo Genes that share ontologies with NSMCE2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NSMCE2 Gene

Localization for NSMCE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMCE2 Gene

Nucleus. Chromosome, telomere. Note=Localizes to PML nuclear bodies in ALT cell lines.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSMCE2 Gene COMPARTMENTS Subcellular localization image for NSMCE2 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1

Gene Ontology (GO) - Cellular Components for NSMCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 17589526
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0016605 PML body IDA 17589526
GO:0030915 Smc5-Smc6 complex IDA 18086888
genes like me logo Genes that share ontologies with NSMCE2: view

Pathways for NSMCE2 Gene

SuperPathways for NSMCE2 Gene

No Data Available

UniProtKB/Swiss-Prot Q96MF7-NSE2_HUMAN

  • Pathway: Protein modification; protein sumoylation

Gene Ontology (GO) - Biological Process for NSMCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IMP 17589526
GO:0000724 double-strand break repair via homologous recombination IMP 16810316
GO:0006303 NOT double-strand break repair via nonhomologous end joining IMP 16810316
GO:0007067 mitotic nuclear division IEA --
GO:0016567 protein ubiquitination --
genes like me logo Genes that share ontologies with NSMCE2: view

No data available for Pathways by source for NSMCE2 Gene

Transcripts for NSMCE2 Gene

Unigene Clusters for NSMCE2 Gene

Non-SMC element 2, MMS21 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSMCE2 Gene

No ASD Table

Relevant External Links for NSMCE2 Gene

GeneLoc Exon Structure for
NSMCE2
ECgene alternative splicing isoforms for
NSMCE2

Expression for NSMCE2 Gene

mRNA expression in normal human tissues for NSMCE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSMCE2 Gene

SOURCE GeneReport for Unigene cluster for NSMCE2 Gene Hs.388297

genes like me logo Genes that share expressions with NSMCE2: view

Orthologs for NSMCE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NSMCE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSMCE2 36
  • 99.87 (n)
  • 100 (a)
NSMCE2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NSMCE2 36
  • 87.88 (n)
  • 85.95 (a)
NSMCE2 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSMCE2 36
  • 87.58 (n)
  • 82.59 (a)
mouse
(Mus musculus)
Mammalia Nsmce2 36
  • 85.29 (n)
  • 84.21 (a)
Nsmce2 16
Nsmce2 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSMCE2 37
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSMCE2 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsmce2 36
  • 85.83 (n)
  • 84.62 (a)
chicken
(Gallus gallus)
Aves NSMCE2 36
  • 67.84 (n)
  • 59.03 (a)
NSMCE2 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSMCE2 37
  • 48 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53049 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmce2 36
  • 58.43 (n)
  • 46.99 (a)
zebrafish
(Danio rerio)
Actinopterygii NSMCE2 37
  • 37 (a)
OneToOne
zgc:194590 36
  • 51.79 (n)
  • 38.39 (a)
Species with no ortholog for NSMCE2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSMCE2 Gene

ENSEMBL:
Gene Tree for NSMCE2 (if available)
TreeFam:
Gene Tree for NSMCE2 (if available)

Paralogs for NSMCE2 Gene

No data available for Paralogs for NSMCE2 Gene

Variants for NSMCE2 Gene

Sequence variations from dbSNP and Humsavar for NSMCE2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs868227 -- 125,251,228(+) TAGAA(A/G)GTTTC intron-variant
rs955840 -- 125,209,953(-) TAGGA(C/T)TTTGC intron-variant
rs1106264 -- 125,181,503(+) TCTGC(A/G)TATTT intron-variant
rs1109964 -- 125,251,607(-) GGAAT(A/G)TATGC intron-variant
rs2293890 -- 125,357,656(-) AGTAG(C/G)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSMCE2 Gene

Variant ID Type Subtype PubMed ID
nsv891434 CNV Gain 21882294
nsv465803 CNV Loss 19166990
esv2670837 CNV Deletion 23128226
nsv891436 CNV Gain 21882294
esv2617834 CNV Deletion 19546169
esv1989590 CNV Deletion 18987734
esv2656518 CNV Deletion 23128226
esv2664643 CNV Deletion 23128226
esv2737541 CNV Deletion 23290073
esv2737542 CNV Deletion 23290073
esv2672529 CNV Deletion 23128226
esv1108735 CNV Deletion 17803354
esv7488 CNV Loss 19470904
esv2737543 CNV Deletion 23290073
esv2737544 CNV Deletion 23290073
esv269553 CNV Insertion 20981092
esv2676303 CNV Deletion 23128226
nsv509276 CNV Insertion 20534489

Relevant External Links for NSMCE2 Gene

HapMap Linkage Disequilibrium report
NSMCE2
Human Gene Mutation Database (HGMD)
NSMCE2

Disorders for NSMCE2 Gene

Relevant External Links for NSMCE2

Genetic Association Database (GAD)
NSMCE2
Human Genome Epidemiology (HuGE) Navigator
NSMCE2
genes like me logo Genes that share disorders with NSMCE2: view

No data available for UniProtKB/Swiss-Prot for NSMCE2 Gene

Publications for NSMCE2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  2. Susceptibility loci associated with prostate cancer progression and mortality. (PMID: 20460480) Gallagher D.J. … Offit K. (Clin. Cancer Res. 2010) 3 49
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for NSMCE2 Gene

Sources for NSMCE2 Gene

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