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] See more...

Aliases for EME2 Gene

Aliases for EME2 Gene

  • Essential Meiotic Structure-Specific Endonuclease Subunit 2 2 3 5
  • Probable Crossover Junction Endonuclease EME2 3 4
  • SLX2 Structure-Specific Endonuclease Subunit Homolog B (S. Cerevisiae) 2
  • SLX2 Structure-Specific Endonuclease Subunit Homolog B 3
  • Essential Meiotic Endonuclease 1 Homolog 2 (S. Pombe) 2
  • Essential Meiotic Endonuclease 1 Homolog 2 3
  • Homolog Of Yeast EME1 Endonuclease 2 3
  • EC 3.1.22.- 4
  • SLX2B 3
  • Gs125 3

External Ids for EME2 Gene

Previous GeneCards Identifiers for EME2 Gene

  • GC16P001763
  • GC16U900464
  • GC16P001823

Summaries for EME2 Gene

Entrez Gene Summary for EME2 Gene

  • 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]

GeneCards Summary for EME2 Gene

EME2 (Essential Meiotic Structure-Specific Endonuclease Subunit 2) is a Protein Coding gene. Diseases associated with EME2 include Spinocerebellar Ataxia 36 and Hypertrophy Of Breast. Among its related pathways are Homologous DNA Pairing and Strand Exchange and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include endonuclease activity and nuclease activity. An important paralog of this gene is EME1.

UniProtKB/Swiss-Prot Summary for EME2 Gene

  • Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures.

Additional gene information for EME2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EME2 Gene

Genomics for EME2 Gene

GeneHancer (GH) Regulatory Elements for EME2 Gene

Promoters and enhancers for EME2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EME2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EME2

Top Transcription factor binding sites by QIAGEN in the EME2 gene promoter:
  • AhR
  • E47
  • GATA-1
  • GATA-2
  • IRF-1
  • Olf-1
  • Roaz
  • Tal-1
  • USF-1
  • USF1

Genomic Locations for EME2 Gene

Genomic Locations for EME2 Gene
chr16:1,772,810-1,781,708
(GRCh38/hg38)
Size:
8,899 bases
Orientation:
Plus strand
chr16:1,823,208-1,831,709
(GRCh37/hg19)
Size:
8,502 bases
Orientation:
Plus strand

Genomic View for EME2 Gene

Genes around EME2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EME2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EME2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EME2 Gene

Proteins for EME2 Gene

  • Protein details for EME2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4GXA9-EME2_HUMAN
    Recommended name:
    Probable crossover junction endonuclease EME2
    Protein Accession:
    A4GXA9
    Secondary Accessions:
    • Q8TEP2
    • Q96RY3

    Protein attributes for EME2 Gene

    Size:
    379 amino acids
    Molecular mass:
    41178 Da
    Quaternary structure:
    • Interacts with MUS81.
    SequenceCaution:
    • Sequence=AAK61292.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB84906.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for EME2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EME2 Gene

Post-translational modifications for EME2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EME2 Gene

No data available for DME Specific Peptides for EME2 Gene

Domains & Families for EME2 Gene

Gene Families for EME2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EME2 Gene

Suggested Antigen Peptide Sequences for EME2 Gene

GenScript: Design optimal peptide antigens:
  • Probable crossover junction endonuclease EME2 (EME2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A4GXA9

UniProtKB/Swiss-Prot:

EME2_HUMAN :
  • Belongs to the EME1/MMS4 family.
Family:
  • Belongs to the EME1/MMS4 family.
genes like me logo Genes that share domains with EME2: view

Function for EME2 Gene

Molecular function for EME2 Gene

UniProtKB/Swiss-Prot Function:
Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures.

Enzyme Numbers (IUBMB) for EME2 Gene

Phenotypes From GWAS Catalog for EME2 Gene

Gene Ontology (GO) - Molecular Function for EME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0005515 protein binding IPI 17289582
GO:0008821 contributes_to crossover junction endodeoxyribonuclease activity IBA 21873635
genes like me logo Genes that share ontologies with EME2: view
genes like me logo Genes that share phenotypes with EME2: view

miRNA for EME2 Gene

miRTarBase miRNAs that target EME2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EME2 Gene

Localization for EME2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EME2 Gene

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 EME2 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for EME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IBA 21873635
GO:0005634 nucleus IEA --
GO:0048476 Holliday junction resolvase complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with EME2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EME2 Gene

Pathways & Interactions for EME2 Gene

genes like me logo Genes that share pathways with EME2: view

Gene Ontology (GO) - Biological Process for EME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA 21873635
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IBA 21873635
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with EME2: view

No data available for SIGNOR curated interactions for EME2 Gene

Drugs & Compounds for EME2 Gene

No Compound Related Data Available

Transcripts for EME2 Gene

mRNA/cDNA for EME2 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EME2 Gene

No ASD Table

Relevant External Links for EME2 Gene

GeneLoc Exon Structure for
EME2

Expression for EME2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EME2 Gene

Protein differential expression in normal tissues from HIPED for EME2 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EME2 Gene



Protein tissue co-expression partners for EME2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EME2

SOURCE GeneReport for Unigene cluster for EME2 Gene:

Hs.7247

Evidence on tissue expression from TISSUES for EME2 Gene

  • Spleen(4.2)
genes like me logo Genes that share expression patterns with EME2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EME2 Gene

Orthologs for EME2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EME2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EME2 31 30
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EME2 30
  • 79.5 (n)
cow
(Bos Taurus)
Mammalia EME2 31 30
  • 78.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eme2 30
  • 74.21 (n)
mouse
(Mus musculus)
Mammalia Eme2 17 31 30
  • 73.64 (n)
oppossum
(Monodelphis domestica)
Mammalia EME2 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves EME2 31 30
  • 57.99 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eme2 30
  • 51.19 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01072828.1 31
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mms4 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Species where no ortholog for EME2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 EME2 Gene

ENSEMBL:
Gene Tree for EME2 (if available)
TreeFam:
Gene Tree for EME2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EME2: view image

Paralogs for EME2 Gene

Paralogs for EME2 Gene

genes like me logo Genes that share paralogs with EME2: view

Variants for EME2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EME2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
778106 Benign: not provided 1,775,981(+) C/T NONSENSE
786633 Benign: not provided 1,773,439(+) A/G MISSENSE_VARIANT
787432 Benign: not provided 1,773,463(+) G/T MISSENSE_VARIANT
787433 Benign: not provided 1,775,371(+) G/A MISSENSE_VARIANT
787434 Benign: not provided 1,775,968(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EME2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EME2 Gene

Variant ID Type Subtype PubMed ID
dgv4856n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv3892756 CNV loss 25118596
nsv1051692 CNV loss 25217958
nsv1160328 CNV deletion 26073780
nsv457335 CNV loss 19166990
nsv457336 CNV loss 19166990
nsv471069 CNV loss 18288195
nsv517196 CNV gain+loss 19592680
nsv518641 CNV loss 19592680
nsv571169 CNV loss 21841781
nsv571170 CNV loss 21841781
nsv571171 CNV gain+loss 21841781
nsv571172 CNV loss 21841781
nsv571173 CNV loss 21841781
nsv827500 CNV gain 20364138
nsv952900 CNV deletion 24416366

Variation tolerance for EME2 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EME2 Gene

Human Gene Mutation Database (HGMD)
EME2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EME2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EME2 Gene

Disorders for EME2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EME2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 36
  • sca36
hypertrophy of breast
  • breasts enlarged
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search EME2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EME2

genes like me logo Genes that share disorders with EME2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EME2 Gene

Publications for EME2 Gene

  1. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. (PMID: 17289582) Ciccia A … West SC (Molecular cell 2007) 3 4 54
  2. Identification and characterization of the human mus81-eme1 endonuclease. (PMID: 12721304) Ciccia A … West SC (The Journal of biological chemistry 2003) 2 3 54
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 54
  4. Signaling from Mus81-Eme2-Dependent DNA Damage Elicited by Chk1 Deficiency Modulates Replication Fork Speed and Origin Usage. (PMID: 26804904) Técher H … Debatisse M (Cell reports 2016) 3 54
  5. Substrate specificity of the MUS81-EME2 structure selective endonuclease. (PMID: 24371268) Pepe A … West SC (Nucleic acids research 2014) 3 54

Products for EME2 Gene

Sources for EME2 Gene