This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process... See more...

Aliases for REXO2 Gene

Aliases for REXO2 Gene

  • RNA Exonuclease 2 2 3 5
  • SFN 2 3 4
  • Oligoribonuclease, Mitochondrial 3 4
  • RNA Exonuclease 2 Homolog 3 4
  • Small Fragment Nuclease 3 4
  • CGI-114 2 3
  • REX2, RNA Exonuclease 2 Homolog (S. Cerevisiae) 2
  • REX2, RNA Exonuclease 2 Homolog 3
  • DKFZP566E144 2
  • EC 3.1.-.- 4
  • REXO2 5
  • REX2 3
  • SMFN 4
  • RFN 3

External Ids for REXO2 Gene

Previous GeneCards Identifiers for REXO2 Gene

  • GC11P113816
  • GC11P114311
  • GC11P110238

Summaries for REXO2 Gene

Entrez Gene Summary for REXO2 Gene

  • This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]

GeneCards Summary for REXO2 Gene

REXO2 (RNA Exonuclease 2) is a Protein Coding gene. Diseases associated with REXO2 include Lennox-Gastaut Syndrome and Noonan Syndrome 1. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and 3'-5'-exoribonuclease activity.

UniProtKB/Swiss-Prot Summary for REXO2 Gene

  • 3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily </=5 nucleotides in length) single-stranded RNA and DNA oligomers. May have a role in cellular nucleotide recycling.

Gene Wiki entry for REXO2 Gene

Additional gene information for REXO2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REXO2 Gene

Genomics for REXO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for REXO2 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
GH11J114437 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 530 4.3 TEAD4 PRDM10 TFE3 RFX1 SIX5 IKZF1 CTCF JUND FOXA1 LARP7 REXO2 HSALNG0087308 NXPE2 ENSG00000255663
GH11J114398 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -38.2 -38185 5.6 ARHGAP35 CREB1 GATAD2A PRDM10 ZNF629 TFE3 IKZF1 ZNF692 POLR2A NFRKB RBM7 C11orf71 ENSG00000255663 NONHSAG009665.2 ZW10 NXPE4 REXO2 ZBTB16
GH11J114348 Enhancer 0.5 ENCODE 12.1 -90.6 -90570 1.5 CTCF PRDM10 REST RAD21 ZNF654 FOS TCF7L2 SMARCE1 REXO2 ENSG00000256195 ENSG00000255663 RBM7 C11orf71 ENSG00000256947 MN309410 NNMT
GH11J114416 Enhancer 0.4 Ensembl ENCODE 13 -22.7 -22735 1.1 FOXA2 REXO2 RBM7 RF00017-1035 RF00017-1034 ENSG00000255663
GH11J114358 Enhancer 0.5 Ensembl 7 -80.1 -80085 1.4 FOXA1 CEBPB NFE2 GATA3 SPI1 MAFK MAX NFE2L2 GATA2 REXO2 ENSG00000256947 LOC107984391 ENSG00000256195 RBM7 NNMT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REXO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REXO2

Top Transcription factor binding sites by QIAGEN in the REXO2 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • E47
  • Hand1
  • HNF-1
  • HNF-1A
  • Nkx2-5
  • PPAR-alpha

Genomic Locations for REXO2 Gene

Genomic Locations for REXO2 Gene
chr11:114,439,386-114,450,279
(GRCh38/hg38)
Size:
10,894 bases
Orientation:
Plus strand
chr11:114,310,108-114,321,001
(GRCh37/hg19)
Size:
10,894 bases
Orientation:
Plus strand

Genomic View for REXO2 Gene

Genes around REXO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REXO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REXO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REXO2 Gene

Proteins for REXO2 Gene

  • Protein details for REXO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3B8-ORN_HUMAN
    Recommended name:
    Oligoribonuclease, mitochondrial
    Protein Accession:
    Q9Y3B8
    Secondary Accessions:
    • B2R532
    • Q32Q18
    • Q53FT1
    • Q6FIC6
    • Q9UFY7

    Protein attributes for REXO2 Gene

    Size:
    237 amino acids
    Molecular mass:
    26833 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • Depletion of REXO2 by RNA interference causes a strong morphological phenotype showing disorganized network of punctate and granular mitochondria. Lack of REXO2 protein also causes a substantial decrease of mitochondrial nucleic acid content and impaired de novo mitochondrial protein synthesis.

    Three dimensional structures from OCA and Proteopedia for REXO2 Gene

    Alternative splice isoforms for REXO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REXO2 Gene

Post-translational modifications for REXO2 Gene

  • Ubiquitination at Lys173 and Lys205
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for REXO2
  • Boster Bio Antibodies for REXO2
  • Santa Cruz Biotechnology (SCBT) Antibodies for REXO2

No data available for DME Specific Peptides for REXO2 Gene

Domains & Families for REXO2 Gene

Gene Families for REXO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for REXO2 Gene

InterPro:
Blocks:
  • Exonuclease
  • Exonuclease, RNase T and DNA polymerase III
ProtoNet:

Suggested Antigen Peptide Sequences for REXO2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92319, highly similar to Homo sapiens REX2, RNA exonuclease 2 homolog (S. cerevisiae) (REXO2), mRNA (B2R532_HUMAN)
  • Small fragment nuclease (ORN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3B8

UniProtKB/Swiss-Prot:

ORN_HUMAN :
  • Belongs to the oligoribonuclease family.
Family:
  • Belongs to the oligoribonuclease family.
genes like me logo Genes that share domains with REXO2: view

Function for REXO2 Gene

Molecular function for REXO2 Gene

UniProtKB/Swiss-Prot Function:
3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily </=5 nucleotides in length) single-stranded RNA and DNA oligomers. May have a role in cellular nucleotide recycling.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by adenosine 3',5'-bisphosphate.

Enzyme Numbers (IUBMB) for REXO2 Gene

Phenotypes From GWAS Catalog for REXO2 Gene

Gene Ontology (GO) - Molecular Function for REXO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3'-5'-exoribonuclease activity IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
GO:0008408 3'-5' exonuclease activity IDA 10851236
genes like me logo Genes that share ontologies with REXO2: view
genes like me logo Genes that share phenotypes with REXO2: view

Animal Models for REXO2 Gene

MGI Knock Outs for REXO2:
  • Rexo2 Rexo2<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for REXO2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REXO2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for REXO2 Gene

Localization for REXO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REXO2 Gene

[Isoform 1]: Mitochondrion intermembrane space. Mitochondrion matrix.
[Isoform 2]: Nucleus.
[Isoform 3]: Cytoplasm.

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 REXO2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Focal adhesion sites (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for REXO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA,IDA --
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with REXO2: view

Pathways & Interactions for REXO2 Gene

PathCards logo

SuperPathways for REXO2 Gene

genes like me logo Genes that share pathways with REXO2: view

Pathways by source for REXO2 Gene

1 KEGG pathway for REXO2 Gene

Gene Ontology (GO) - Biological Process for REXO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IDA 10851236
GO:0009117 nucleotide metabolic process TAS 10851236
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic IEA --
genes like me logo Genes that share ontologies with REXO2: view

No data available for SIGNOR curated interactions for REXO2 Gene

Drugs & Compounds for REXO2 Gene

(1) Drugs for REXO2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 56
genes like me logo Genes that share compounds with REXO2: view

Transcripts for REXO2 Gene

mRNA/cDNA for REXO2 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REXO2

Alternative Splicing Database (ASD) splice patterns (SP) for REXO2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - -
SP5: - - - - - - - - - - - -
SP6: - -
SP7: -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - -
SP10: - -
SP11:
SP12:

Relevant External Links for REXO2 Gene

GeneLoc Exon Structure for
REXO2

Expression for REXO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for REXO2 Gene

Protein differential expression in normal tissues from HIPED for REXO2 Gene

This gene is overexpressed in Skin (8.1), Uterus (7.7), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for REXO2 Gene



Protein tissue co-expression partners for REXO2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for REXO2

SOURCE GeneReport for Unigene cluster for REXO2 Gene:

Hs.677190

Evidence on tissue expression from TISSUES for REXO2 Gene

  • Nervous system(4.7)
  • Muscle(4.6)
  • Kidney(4.5)
  • Liver(4.4)
  • Skin(2.7)
  • Pancreas(2.6)
  • Heart(2.6)
  • Lung(2.2)
  • Bone marrow(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with REXO2: 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 REXO2 Gene

Orthologs for REXO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for REXO2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia REXO2 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia REXO2 30 31
  • 96.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia REXO2 30 31
  • 95.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rexo2 30
  • 93.81 (n)
Mouse
(Mus musculus)
Mammalia Rexo2 30 17 31
  • 93.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia REXO2 31
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia REXO2 31
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves REXO2 30 31
  • 79.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia REXO2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rexo2 30
  • 78.58 (n)
Str.1796 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9259 30
Zebrafish
(Danio rerio)
Actinopterygii smfn 30 31
  • 74.26 (n)
OneToOne
zgc73191 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12624 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012804 30
  • 58.52 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10214 30 31
  • 52.52 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_C08B6.8 30
  • 53.11 (n)
C08B6.8 31
  • 45 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REX2 30 31 33
  • 52.44 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08998g 30
  • 48.17 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR217C 30
  • 47.05 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G26970 30
  • 54.1 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0465500 30
  • 54.12 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.5073 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rex2 30
  • 52.79 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.15100 30
Species where no ortholog for REXO2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for REXO2 Gene

ENSEMBL:
Gene Tree for REXO2 (if available)
TreeFam:
Gene Tree for REXO2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for REXO2: view image

Paralogs for REXO2 Gene

No data available for Paralogs for REXO2 Gene

Variants for REXO2 Gene

Additional dbSNP identifiers (rs#s) for REXO2 Gene

Variation tolerance for REXO2 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REXO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REXO2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for REXO2 Gene

Disorders for REXO2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for REXO2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lennox-gastaut syndrome
  • lgs
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search REXO2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for REXO2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with REXO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REXO2 Gene

Publications for REXO2 Gene

  1. The human homolog of Escherichia coli Orn degrades small single-stranded RNA and DNA oligomers. (PMID: 10851236) Nguyen LH … Wilson DM (The Journal of biological chemistry 2000) 2 3 4 23
  2. REXO2 is an oligoribonuclease active in human mitochondria. (PMID: 23741365) Bruni F … Chrzanowska-Lightowlers ZM (PloS one 2013) 2 3 4
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Oligoribonuclease is a common downstream target of lithium-induced pAp accumulation in Escherichia coli and human cells. (PMID: 16682444) Mechold U … Danchin A (Nucleic acids research 2006) 4 23

Products for REXO2 Gene

Sources for REXO2 Gene