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Aliases for EME2 Gene

Aliases for EME2 Gene

  • Essential Meiotic Structure-Specific Endonuclease Subunit 2 2 3 5
  • 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
  • Probable Crossover Junction Endonuclease EME2 3
  • 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 Combined Oxidative Phosphorylation Deficiency 32. Among its related pathways are Fanconi anemia pathway 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 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 , fRNAdb sequence ontologies and piRNA Summary for EME2 Gene

Genomics for EME2 Gene

GeneHancer (GH) Regulatory Elements for EME2 Gene

Promoters and enhancers for EME2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001769 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 688.8 -0.7 -656 6.4 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 EME2 NME3 MRPS34 CRAMP1 ENSG00000260051 ENSG00000261505 TELO2 UNKL UBE2I E4F1
GH16J001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.5 -462.5 -462453 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 ENSG00000261505 TELO2 ENSG00000260051 E4F1 TSC2 IFT140
GH16J001781 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.1 +9.3 9314 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 E2F8 ZNF207 NUBP2 SPSB3 CRAMP1 TBL3 FAHD1 EME2 IFT140 ENSG00000261207 ENSG00000260051 UNKL
GH16J001793 Promoter/Enhancer 1.4 EPDnew ENCODE 31.7 +21.1 21085 2.3 FOXA2 ARID4B THRB ZNF48 RAD21 RARA YY1 SLC30A9 ZNF614 THAP11 IGFALS SPSB3 EME2 HAGH JPT2
GH16J002147 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +382.6 382583 17.4 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 TRAF7 SNORD60 SNHG19 ENSG00000281010 GC16M002156 GC16M002158 RAB26 ENSG00000261505 CRAMP1 ENSG00000260051
- 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

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

Genomic Locations for EME2 Gene

Genomic Locations for EME2 Gene
chr16:1,773,207-1,781,708
(GRCh38/hg38)
Size:
8,502 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=Translation N-terminally shortened.; 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EME2 Gene

GenScript: Design optimal peptide antigens:

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

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 --
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 Phenotypes From GWAS Catalog , 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 1

Gene Ontology (GO) - Cellular Components for EME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IEA --
GO:0048476 Holliday junction resolvase complex IEA,IBA --
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

Interacting Proteins for EME2 Gene

Gene Ontology (GO) - Biological Process for EME2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA --
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IBA --
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

Unigene Clusters for EME2 Gene

Essential meiotic endonuclease 1 homolog 2 (S. pombe):
Representative Sequences:

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
ECgene alternative splicing isoforms for
EME2

Expression for EME2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of EME2 Gene:

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 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EME2 33
  • 79.5 (n)
cow
(Bos Taurus)
Mammalia EME2 34 33
  • 78.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eme2 33
  • 74.21 (n)
mouse
(Mus musculus)
Mammalia Eme2 16 34 33
  • 73.64 (n)
oppossum
(Monodelphis domestica)
Mammalia EME2 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves EME2 34 33
  • 57.99 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eme2 33
  • 51.19 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01072828.1 34
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mms4 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 from dbSNP and Humsavar for EME2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs563189672 pathogenic, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 1,772,656(+) C/T upstream_transcript_variant
rs763672163 pathogenic, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 1,773,026(+) G/A upstream_transcript_variant
rs1000513546 -- 1,776,371(+) AG/ 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000988298 -- 1,773,005(+) C/T upstream_transcript_variant
rs1002180875 -- 1,771,576(+) C/T upstream_transcript_variant

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

(1) MalaCards diseases for EME2 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 32
  • coxpd32
- 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 58
  2. Identification and characterization of the human mus81-eme1 endonuclease. (PMID: 12721304) Ciccia A … West SC (The Journal of biological chemistry 2003) 2 3 58
  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 58
  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 58
  5. MUS81-EME2 promotes replication fork restart. (PMID: 24813886) Pepe A … West SC (Cell reports 2014) 3 58

Products for EME2 Gene

Sources for EME2 Gene

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