EME2 - essential meiotic structure-specific endonuclease subunit 2 Gene

Also Known as SLX2B; gs125

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 197342

About EME2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,772,810-1,781,702 (from NCBI)

This gene has 6 transcripts (splice variants), 138 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 3.4), duodenum (RPKM 3.1) and 24 other tissues.

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]

EME2 Products (1)

mRNA Protein Name
NM_001257370.2 NP_001244299.1 probable crossover junction endonuclease EME2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17289582 GOA
Biological Process GO Annotation Evidence References Source
involved in double-strand break repair IDA
IDA: Inferred from direct assay
17289582 GOA
involved in replication fork processing IDA
IDA: Inferred from direct assay
17289582 GOA
Cellular Component GO Annotation Evidence References Source
part of endodeoxyribonuclease complex IPI
IPI: Inferred from physical interaction
17289582 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EME2 Protein Structure

ERCC4

ERCC4: ERCC4 domain (80 - 249)

  • 0
  • 100
  • 200
  • 300
  • 379 a.a.
Protein Preferred Names Protein Names

probable crossover junction endonuclease EME2

  • SLX2 structure-specific endonuclease subunit homolog B

EME2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EME2 A4GXA9 MUS81 Homo sapiens Q96NY9 17289582
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 32
  • COXPD32

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Kbg Syndrome
  • KBGS

  • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

  • Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

  • Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus EME2 VGNC VGNC:28471
Rattus norvegicus EME2 RGD RGD:1304924
Macaca mulatta EME2 VGNC VGNC:104695
Felis catus EME2 VGNC VGNC:61842
Mus musculus EME2 MGD MGI:1919889
Others EME2 NCBI