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Aliases for NSMCE2 Gene

Aliases for NSMCE2 Gene

  • NSE2/MMS21 Homolog, SMC5-SMC6 Complex SUMO Ligase 2 3 5
  • Non-Structural Maintenance Of Chromosomes Element 2 Homolog 3 4
  • Zinc Finger, MIZ-Type Containing 7 2 3
  • C8orf36 3 4
  • MMS21 3 4
  • Non-SMC Element 2 Homolog (MMS21, S. Cerevisiae) 2
  • Non-SMC Element 2, MMS21 Homolog (S. Cerevisiae) 2
  • Methyl Methanesulfonate Sensitivity Gene 21 3
  • Chromosome 8 Open Reading Frame 36 2
  • Non-SMC Element 2, MMS21 Homolog 3
  • E3 SUMO-Protein Ligase NSE2 3
  • Non-SMC Element 2 Homolog 4
  • MMS21 Homolog 4
  • EC 6.3.2.- 4
  • EC 6.3.2 61
  • HMMS21 4
  • ZMIZ7 3
  • NSE2 3

External Ids for NSMCE2 Gene

Previous HGNC Symbols for NSMCE2 Gene

  • C8orf36

Previous GeneCards Identifiers for NSMCE2 Gene

  • GC08P126175
  • GC08P121427
  • GC08P126103

Summaries for NSMCE2 Gene

Entrez Gene Summary for NSMCE2 Gene

  • 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]

GeneCards Summary for NSMCE2 Gene

NSMCE2 (NSE2/MMS21 Homolog, SMC5-SMC6 Complex SUMO Ligase) is a Protein Coding gene. Diseases associated with NSMCE2 include Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome and Short Stature, Microcephaly, And Endocrine Dysfunction. Among its related pathways are Metabolism of proteins and SUMOylation. GO annotations related to this gene include ligase activity and 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 an 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMCE2 Gene

Genomics for NSMCE2 Gene

Regulatory Elements for NSMCE2 Gene

Enhancers for NSMCE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G125340 1.5 FANTOM5 Ensembl ENCODE 14.7 +250.6 250648 2.9 HDAC1 ELF3 HDGF FOXA2 SIN3A EGR1 FOS RELB IKZF2 CEBPB TRIB1 NSMCE2 WASHC5 ENSG00000254431 RN7SL329P
GH08G125425 1.4 Ensembl ENCODE dbSUPER 13.2 +335.0 335028 2.2 NFIB ARID4B RAD21 ZNF121 GLIS2 GATA2 FOS EGR2 ZNF263 KLF11 NSMCE2 TRMT12 TRIB1 GC08P125376
GH08G125509 1.5 FANTOM5 Ensembl ENCODE 10.8 +418.4 418422 1.4 ELF3 TBP DRAP1 FOXA2 SAP130 MLX JUN RAD21 ZNF644 RARA TRIB1 NSMCE2 WASHC5 GC08P125497 LOC105375746
GH08G125118 1.4 Ensembl ENCODE dbSUPER 11.5 +28.1 28054 3.1 HDGF FOXA2 ZFP64 WRNIP1 SIN3A FEZF1 BRCA1 ZNF2 ZBTB7B YY1 TRIB1 LINC00964 WASHC5 NSMCE2 RN7SL329P
GH08G125439 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +348.5 348523 1.6 ZNF3 MAFG CHD7 PRDM6 POLR2A CREB1 KDM1A NFE2 HNF4A TRIB1 NSMCE2 WASHC5 GC08P125444
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NSMCE2 on UCSC Golden Path with GeneCards custom track

Promoters for NSMCE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000230238 -79 2001 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610

Genomic Location for NSMCE2 Gene

Chromosome:
8
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

Genes around NSMCE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMCE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMCE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 NSMCE3.

    Three dimensional structures from OCA and Proteopedia for NSMCE2 Gene

neXtProt entry for NSMCE2 Gene

Selected DME Specific Peptides for NSMCE2 Gene

Q96MF7:
  • KAVQSTINHVKEER
  • IVTQSQTNF
  • QTEVSSEYSMDKAMVEFA

Post-translational modifications for NSMCE2 Gene

  • Sumoylated, possibly via autosumoylation.
  • Ubiquitination at posLast=8080, Lys114, Lys125, and posLast=130130
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NSMCE2

Domains & Families for NSMCE2 Gene

Gene Families for NSMCE2 Gene

Protein Domains for NSMCE2 Gene

Suggested Antigen Peptide Sequences for NSMCE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96MF7

UniProtKB/Swiss-Prot:

NSE2_HUMAN :
  • Belongs to the NSE2 family.
Family:
  • Belongs to the NSE2 family.
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 an 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:0005515 protein binding IPI 18086888
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0019789 SUMO transferase activity IEA,IDA 17589526
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NSMCE2: view
genes like me logo Genes that share phenotypes with NSMCE2: view

Human Phenotype Ontology for NSMCE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for NSMCE2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NSMCE2 Gene

Localization for NSMCE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMCE2 Gene

Nucleus. Chromosome, telomere. Nucleus, PML body. Note=Localizes to PML nuclear bodies in ALT cell lines. {ECO:0000269 PubMed:17589526}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IEA,IDA 17589526
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with NSMCE2: view

Pathways & Interactions for NSMCE2 Gene

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

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 IEA,IMP 16810316
GO:0006281 DNA repair IEA --
GO:0006303 NOT double-strand break repair via nonhomologous end joining IMP 16810316
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with NSMCE2: view

No data available for SIGNOR curated interactions for NSMCE2 Gene

Drugs & Compounds for NSMCE2 Gene

No Compound Related Data Available

Transcripts for NSMCE2 Gene

Unigene Clusters for NSMCE2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NSMCE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSMCE2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (46.4), Amniocyte (9.4), and Bone marrow stromal cell (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NSMCE2 Gene



NURSA nuclear receptor signaling pathways regulating expression of NSMCE2 Gene:

NSMCE2

SOURCE GeneReport for Unigene cluster for NSMCE2 Gene:

Hs.388297

Evidence on tissue expression from TISSUES for NSMCE2 Gene

  • Muscle(4.2)
genes like me logo Genes that share expression patterns with NSMCE2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSMCE2 Gene

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 35 34
  • 99.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSMCE2 34 35
  • 87.88 (n)
dog
(Canis familiaris)
Mammalia NSMCE2 34
  • 87.58 (n)
rat
(Rattus norvegicus)
Mammalia Nsmce2 34
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Nsmce2 34 16 35
  • 85.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NSMCE2 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSMCE2 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMCE2 34 35
  • 67.84 (n)
lizard
(Anolis carolinensis)
Reptilia NSMCE2 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmce2 34
  • 58.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53049 34
zebrafish
(Danio rerio)
Actinopterygii zgc:194590 34
  • 51.79 (n)
NSMCE2 35
  • 37 (a)
OneToOne
Species where no ortholog for NSMCE2 was found in the sources mined by GeneCards:
  • 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
VAR_036327 A breast cancer sample
rs1057519088 Pathogenic 125,182,184(+) AGAAT(-/T)CTGAT reference, frameshift-variant
rs1057519089 Pathogenic 125,366,841(+) AAGGG(-/AGGG)CAATT reference, frameshift-variant
rs185375174 Likely benign 125,091,735(+) ACCTG(C/G)AGCGG upstream-variant-2KB, utr-variant-5-prime
rs370705310 Likely benign 125,091,668(+) CGCGG(A/G)GCCGG upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1417e214 CNV loss 21293372
dgv3898n106 CNV deletion 24896259
esv1108735 CNV deletion 17803354
esv1989590 CNV deletion 18987734
esv2617834 CNV deletion 19546169
esv2656518 CNV deletion 23128226
esv2664643 CNV deletion 23128226
esv2670837 CNV deletion 23128226
esv2672529 CNV deletion 23128226
esv2676303 CNV deletion 23128226
esv2737541 CNV deletion 23290073
esv2737542 CNV deletion 23290073
esv2737543 CNV deletion 23290073
esv2737544 CNV deletion 23290073
esv2761467 CNV loss 21179565
esv3445339 CNV insertion 20981092
esv3544154 CNV deletion 23714750
esv3544155 CNV deletion 23714750
esv3544158 CNV deletion 23714750
esv3572977 CNV loss 25503493
esv3618710 CNV loss 21293372
esv3618711 CNV loss 21293372
esv3618712 CNV loss 21293372
esv3618714 CNV gain 21293372
esv3618716 CNV gain 21293372
esv3618717 CNV loss 21293372
esv3618720 CNV gain 21293372
esv3618721 CNV loss 21293372
esv7488 CNV loss 19470904
nsv1022954 CNV gain 25217958
nsv1034798 CNV loss 25217958
nsv1075577 CNV deletion 25765185
nsv1133113 OTHER inversion 24896259
nsv1148336 CNV deletion 26484159
nsv1153268 CNV deletion 26484159
nsv465803 CNV loss 19166990
nsv474682 CNV novel sequence insertion 20440878
nsv478177 CNV novel sequence insertion 20440878
nsv479055 CNV novel sequence insertion 20440878
nsv509276 CNV insertion 20534489
nsv612148 CNV loss 21841781
nsv981979 CNV duplication 23825009

Variation tolerance for NSMCE2 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMCE2 Gene

Human Gene Mutation Database (HGMD)
NSMCE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSMCE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSMCE2 Gene

Disorders for NSMCE2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NSMCE2 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
microcephalic primordial dwarfism-insulin resistance syndrome
short stature, microcephaly, and endocrine dysfunction
  • short stature, microcephaly and endocrine dysfunction
dwarfism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NSE2_HUMAN
  • Seckel syndrome 10 (SCKL10) [MIM:617253]: A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:25105364}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NSMCE2

Genetic Association Database (GAD)
NSMCE2
Human Genome Epidemiology (HuGE) Navigator
NSMCE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMCE2
genes like me logo Genes that share disorders with NSMCE2: view

No data available for Genatlas for NSMCE2 Gene

Publications for NSMCE2 Gene

  1. Human MMS21/NSE2 is a SUMO ligase required for DNA repair. (PMID: 16055714) Potts P.R. … Yu H. (Mol. Cell. Biol. 2005) 2 3 4 64
  2. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. (PMID: 25105364) Payne F. … Semple R. (J. Clin. Invest. 2014) 3 4 64
  3. The Nse2/Mms21 SUMO ligase of the Smc5/6 complex in the maintenance of genome stability. (PMID: 21550342) Stephan A.K. … Morrison C.G. (FEBS Lett. 2011) 2 3 64
  4. 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 46 64
  5. Susceptibility loci associated with prostate cancer progression and mortality. (PMID: 20460480) Gallagher D.J. … Offit K. (Clin. Cancer Res. 2010) 3 46 64

Products for NSMCE2 Gene

Sources for NSMCE2 Gene

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