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

    Gene ID: 286053, updated on 11-Jun-2021

    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
    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
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    Try the new Transcript table

    Genomic context

    See NSMCE2 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (125091779..125367125)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126104102..126379362)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene WASHC5 antisense RNA 1 Neighboring gene squalene epoxidase Neighboring gene WASH complex subunit 5 Neighboring gene HNF1 motif-containing MPRA enhancer 31 Neighboring gene RNA, 7SL, cytoplasmic 329, pseudogene Neighboring gene tribbles pseudokinase 1 Neighboring gene uncharacterized LOC105375746

    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
    C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
    GeneReviews: Not available
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available
    Seckel syndrome 10
    MedGen: C4310647 OMIM: 617253 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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
    PubMed 
    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
     
    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
    PubMed 
    part_of Smc5-Smc6 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    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
    PubMed 

    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

    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
      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
      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
      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
      Q96MF7
      UniProtKB/TrEMBL
      A0A024R9J6
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      125091779..125367125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447130.1XP_024302898.1  E3 SUMO-protein ligase NSE2 isoform X2

      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_011516975.2XP_011515277.1  E3 SUMO-protein ligase NSE2 isoform X2

      See identical proteins and their annotated locations for XP_011515277.1

      UniProtKB/Swiss-Prot
      Q96MF7
      UniProtKB/TrEMBL
      A0A024R9J6
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    3. XM_017013331.1XP_016868820.1  E3 SUMO-protein ligase NSE2 isoform X2

      UniProtKB/Swiss-Prot
      Q96MF7
      UniProtKB/TrEMBL
      A0A024R9J6
      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_017013333.1XP_016868822.1  E3 SUMO-protein ligase NSE2 isoform X4

      UniProtKB/TrEMBL
      E5RFJ1
      Related
      ENSP00000428846.1, ENST00000517315.1
      Conserved Domains (1) summary
      cd16651
      Location:107177
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    5. XM_011516974.2XP_011515276.1  E3 SUMO-protein ligase NSE2 isoform X2

      See identical proteins and their annotated locations for XP_011515276.1

      UniProtKB/Swiss-Prot
      Q96MF7
      UniProtKB/TrEMBL
      A0A024R9J6
      Conserved Domains (1) summary
      cd16651
      Location:167237
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    6. XM_017013334.1XP_016868823.1  E3 SUMO-protein ligase NSE2 isoform X5

    7. XM_017013332.2XP_016868821.1  E3 SUMO-protein ligase NSE2 isoform X3

    8. XM_017013330.2XP_016868819.1  E3 SUMO-protein ligase NSE2 isoform X1

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