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    NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [ Homo sapiens (human) ]

    Gene ID: 286053, updated on 13-Apr-2024

    Summary

    Official Symbol
    NSMCE2provided by HGNC
    Official Full Name
    NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:26513
    See related
    Ensembl:ENSG00000156831 MIM:617246; AllianceGenome:HGNC:26513
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NSE2; MMS21; ZMIZ7; C8orf36
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.5), lymph node (RPKM 2.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    8q24.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (125091860..125367120)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (126225519..126500604)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126104102..126379362)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27898 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 Neighboring gene WASHC5 antisense RNA 1 Neighboring gene squalene epoxidase Neighboring gene WASH complex subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27903 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:126201101-126202300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27906 Neighboring gene HNF1 motif-containing MPRA enhancer 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27907 Neighboring gene Sharpr-MPRA regulatory region 6874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27909 Neighboring gene RNA, 7SL, cytoplasmic 329, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:126312861-126313361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27910 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126346157-126346974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:126389339-126389905 Neighboring gene Sharpr-MPRA regulatory region 8491 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126398994-126399684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126400790-126401290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126401291-126401791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126416953-126417640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126417641-126418327 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126427297-126428194 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126428195-126429092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27913 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126433597-126434098 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126434099-126434598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19519 Neighboring gene Sharpr-MPRA regulatory region 8664 Neighboring gene MPRA-validated peak7163 silencer Neighboring gene tribbles pseudokinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:126513538-126514038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27917 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126525111-126526310 Neighboring gene TRIB1 associated lncRNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126533553-126534054 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:126544853-126545039 Neighboring gene long intergenic non-protein coding RNA 2964

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Seckel syndrome 10
    MedGen: C4310647 OMIM: 617253 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32440

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SUMO transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables SUMO transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin looping NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    NOT involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of maintenance of mitotic sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitotic metaphase/anaphase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein sumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein sumoylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein sumoylation TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of telomere maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance via recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Smc5-Smc6 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Smc5-Smc6 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Smc5-Smc6 complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    E3 SUMO-protein ligase NSE2
    Names
    E3 SUMO-protein transferase NSE2
    NSMCE2/PVT1 fusion
    PVT1/NSMCE2 fusion
    methyl methanesulfonate sensitivity gene 21
    non-SMC element 2, MMS21 homolog
    non-structural maintenance of chromosomes element 2 homolog
    zinc finger, MIZ-type containing 7
    NP_001336414.1
    NP_001336415.1
    NP_001336416.1
    NP_775956.1
    XP_011515276.1
    XP_011515277.1
    XP_016868819.1
    XP_016868820.1
    XP_016868821.1
    XP_024302898.1
    XP_047277658.1
    XP_047277659.1
    XP_047277660.1
    XP_047277661.1
    XP_054216280.1
    XP_054216281.1
    XP_054216282.1
    XP_054216283.1
    XP_054216284.1
    XP_054216285.1
    XP_054216286.1
    XP_054216287.1
    XP_054216288.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053069.1 RefSeqGene

      Range
      5043..280303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349485.2NP_001336414.1  E3 SUMO-protein ligase NSE2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      AC084083, AC126366
      Consensus CDS
      CCDS6356.1
      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Related
      ENSP00000430668.1, ENST00000522563.5
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    2. NM_001349486.2NP_001336415.1  E3 SUMO-protein ligase NSE2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate slice site in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      AC084083, AC126366
      Consensus CDS
      CCDS6356.1
      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    3. NM_001349487.2NP_001336416.1  E3 SUMO-protein ligase NSE2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC126366, BM993808
      Consensus CDS
      CCDS87625.1
      UniProtKB/TrEMBL
      A0A087WTZ8, E5RIM1
      Related
      ENSP00000478256.1, ENST00000520866.5
    4. NM_173685.4NP_775956.1  E3 SUMO-protein ligase NSE2 isoform 1

      See identical proteins and their annotated locations for NP_775956.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      BC032797, CB217595
      Consensus CDS
      CCDS6356.1
      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Related
      ENSP00000287437.3, ENST00000287437.8
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins

    RNA

    1. NR_146191.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084083, AC126366
    2. NR_146192.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks several exons, contains an exon, and its 3' terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC126366, BM993808

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      125091860..125367120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013331.2XP_016868820.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    2. XM_047421702.1XP_047277658.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    3. XM_011516974.3XP_011515276.1  E3 SUMO-protein ligase NSE2 isoform X2

      See identical proteins and their annotated locations for XP_011515276.1

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    4. XM_047421705.1XP_047277661.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    5. XM_047421703.1XP_047277659.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    6. XM_024447130.2XP_024302898.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    7. XM_011516975.3XP_011515277.1  E3 SUMO-protein ligase NSE2 isoform X2

      See identical proteins and their annotated locations for XP_011515277.1

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    8. XM_047421704.1XP_047277660.1  E3 SUMO-protein ligase NSE2 isoform X4

      Related
      ENSP00000429612.1, ENST00000517532.5
    9. XM_017013332.3XP_016868821.1  E3 SUMO-protein ligase NSE2 isoform X3

    10. XM_017013330.3XP_016868819.1  E3 SUMO-protein ligase NSE2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      126225519..126500604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360311.1XP_054216286.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    2. XM_054360308.1XP_054216283.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    3. XM_054360310.1XP_054216285.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    4. XM_054360309.1XP_054216284.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    5. XM_054360306.1XP_054216281.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    6. XM_054360307.1XP_054216282.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q8N549, Q96MF7
    7. XM_054360313.1XP_054216288.1  E3 SUMO-protein ligase NSE2 isoform X4

    8. XM_054360312.1XP_054216287.1  E3 SUMO-protein ligase NSE2 isoform X3

    9. XM_054360305.1XP_054216280.1  E3 SUMO-protein ligase NSE2 isoform X1