EME2 (essential meiotic structure-specific endonuclease subunit 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 197342
Gene name Essential meiotic structure-specific endonuclease subunit 2
Gene symbol EME2
Synonyms (NCBI Gene)
SLX2Bgs125
Chromosome 16
Chromosome location 16p13.3
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]
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT050291 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
GO:0000723 Process Telomere maintenance IMP 24813886
GO:0000781 Component Chromosome, telomeric region IMP 24813886
GO:0003677 Function DNA binding IEA
GO:0004518 Function Nuclease activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610886 27289 ENSG00000197774
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A4GXA9
Protein name Structure-specific endonuclease subunit EME2 (Essential meiotic structure-specific endonuclease subunit 2)
Protein function Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME2 which is involved in the maintenance of genome stability. In the complex, EME2 is required for DNA cleavage, participating in DNA recognition and bending
PDB 7F6L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02732 ERCC4 80 → 250 ERCC4 domain Domain
Sequence 
MARVGPGRAGVSCQGRGRGRGGSGQRRPPTWEISDSDAEDSAGSEAAARARDPAGERRAA
AEALRLLRPEQVLKRLAVCVDTAILEDAGADVLMEALEALGCECRIEPQRPARSLRWTRA
SPDPCPRSLPPEVWAAGEQELLLLLEPEEFLQGVATLTQISGPTHWVPWISPETTARPHL
AVIGLDAYLWSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEALVLLQLWANLDVLLVASW
QELSRHVCAVTKALAQYPLKQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQF
SRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSR
RICLFLTTANPDLLLDLGS
Sequence length 379
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Fanconi anemia pathway   Resolution of D-loop Structures through Holliday Junction Intermediates
Fanconi Anemia Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 Combined Oxidative Phosphorylation Deficiency CLINVAR_DG 28777931
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leigh Disease Leigh Syndrome CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 34769200 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only