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    EME2 essential meiotic structure-specific endonuclease subunit 2 [ Homo sapiens (human) ]

    Gene ID: 197342, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EME2provided by HGNC
    Official Full Name
    essential meiotic structure-specific endonuclease subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:27289
    See related
    Ensembl:ENSG00000197774 MIM:610886; AllianceGenome:HGNC:27289
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLX2B; gs125
    Summary
    EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in prostate (RPKM 3.4), duodenum (RPKM 3.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EME2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1772810..1781702)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1788644..1797538)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1822811..1831703)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 8 interacting protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1784965-1785466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1785467-1785966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1789279-1789857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1789858-1790435 Neighboring gene microRNA 3177 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1800917-1801129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1802173-1802673 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1810494-1810664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1814128-1814842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1824057-1824845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1825681-1826181 Neighboring gene mitochondrial ribosomal protein S34 Neighboring gene NME/NM23 nucleoside diphosphate kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7008 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1833677-1833903 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1836968-1837136 Neighboring gene NUBP iron-sulfur cluster assembly factor 2, cytosolic Neighboring gene insulin like growth factor binding protein acid labile subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Crystal structure of the human MUS81-EME2 complex.
      Title: Crystal structure of the human MUS81-EME2 complex.
    2. Avoiding damage formation through invalidation of Mus81-Eme2 and Mre11, or preventing damage signaling by turning off the ATM pathway, suppresses the replication phenotypes of Chk1-deficient cells.
      Title: Signaling from Mus81-Eme2-Dependent DNA Damage Elicited by Chk1 Deficiency Modulates Replication Fork Speed and Origin Usage.
    3. Results define distinct and temporal roles for MUS81-EME1 and MUS81-EME2 in the maintenance of genome stability.
      Title: MUS81-EME2 promotes replication fork restart.
    4. The presence of a 5' phosphate terminus at nicks and gaps rendered DNA significantly less susceptible to the cleavage by MUS81-EME2 than its absence.
      Title: Human MUS81-EME2 can cleave a variety of DNA structures including intact Holliday junction and nicked duplex.
    5. The results indicate that MUS81-EME2 is a more active endonuclease than MUS81-EME1 and exhibits broader substrate specificity.
      Title: Substrate specificity of the MUS81-EME2 structure selective endonuclease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00151

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to crossover junction DNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Holliday junction resolvase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of endodeoxyribonuclease complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nuclear replication fork NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    probable crossover junction endonuclease EME2
    Names
    SLX2 structure-specific endonuclease subunit homolog B
    essential meiotic endonuclease 1 homolog 2
    homolog of yeast EME1 endonuclease 2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001257370.2 → NP_001244299.1  probable crossover junction endonuclease EME2

      See identical proteins and their annotated locations for NP_001244299.1

      Status: VALIDATED

      Source sequence(s)
      AC012180
      Consensus CDS
      CCDS58404.1
      UniProtKB/Swiss-Prot
      A4GXA9, Q8TEP2, Q96RY3
      Related
      ENSP00000457353.1, ENST00000568449.7
      Conserved Domains (1) summary
      pfam02732
      Location:177 → 249
      ERCC4; ERCC4 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1772810..1781702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1788644..1797538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010865.1: Suppressed sequence

      Description
      NM_001010865.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4GXA9.3 GenPept UniProtKB/Swiss-Prot:A4GXA9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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