EME2 - essential meiotic structure-specific endonuclease subunit 2 Gene

Homo sapiens

Also known as SLX2B; gs125

Gene ID: 197342 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17289582	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

0
100
200
300
379 a.a.

Protein Preferred Names

Protein Names

probable crossover junction endonuclease EME2

SLX2 structure-specific endonuclease subunit homolog B

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04347	EME2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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