EME2 essential meiotic structure-specific endonuclease subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EME2provided by HGNC
Official Full Name: essential meiotic structure-specific endonuclease subunit 2provided by HGNC
Primary source: HGNC:HGNC:27289
See related: Ensembl:ENSG00000197774 MIM:610886; AllianceGenome:HGNC:27289
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLX2B; gs125
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]
Expression: Ubiquitous expression in prostate (RPKM 3.4), duodenum (RPKM 3.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1772810..1781702)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1788644..1797538)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1822811..1831703)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Crystal structure of the human MUS81-EME2 complex.
Title: Crystal structure of the human MUS81-EME2 complex.
Avoiding damage formation through invalidation of Mus81-Eme2 and Mre11, or preventing damage signaling by turning off the ATM pathway, suppresses the replication phenotypes of Chk1-deficient cells.
Title: Signaling from Mus81-Eme2-Dependent DNA Damage Elicited by Chk1 Deficiency Modulates Replication Fork Speed and Origin Usage.
Results define distinct and temporal roles for MUS81-EME1 and MUS81-EME2 in the maintenance of genome stability.
Title: MUS81-EME2 promotes replication fork restart.
The presence of a 5' phosphate terminus at nicks and gaps rendered DNA significantly less susceptible to the cleavage by MUS81-EME2 than its absence.
Title: Human MUS81-EME2 can cleave a variety of DNA structures including intact Holliday junction and nicked duplex.
The results indicate that MUS81-EME2 is a more active endonuclease than MUS81-EME1 and exhibits broader substrate specificity.
Title: Substrate specificity of the MUS81-EME2 structure selective endonuclease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MRPS34_1407 (e-PCR)
- UniSTS:277504

RH103022 (e-PCR)
- UniSTS:97356

RH36357 (e-PCR)
- UniSTS:66542

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to crossover junction DNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic intra-S DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in replication fork processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in replication fork processing	IDA Inferred from Direct Assay more info	PubMed
involved_in resolution of meiotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Holliday junction resolvase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of endodeoxyribonuclease complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nuclear replication fork	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: probable crossover junction endonuclease EME2

Names: SLX2 structure-specific endonuclease subunit homolog B; essential meiotic endonuclease 1 homolog 2; homolog of yeast EME1 endonuclease 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001257370.2 → NP_001244299.1 probable crossover junction endonuclease EME2

See identical proteins and their annotated locations for NP_001244299.1

Status: VALIDATED

Source sequence(s)

AC012180

Consensus CDS

CCDS58404.1

UniProtKB/Swiss-Prot

A4GXA9, Q8TEP2, Q96RY3

Related

ENSP00000457353.1, ENST00000568449.7

Conserved Domains (1) summary

pfam02732
Location:177 → 249

ERCC4; ERCC4 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

1772810..1781702

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

1788644..1797538

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001010865.1: Suppressed sequence

Description

NM_001010865.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.