Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MRE11 Gene

Aliases for MRE11 Gene

  • MRE11 Homolog, Double Strand Break Repair Nuclease 2 3 5
  • MRE11 Homolog A, Double Strand Break Repair Nuclease 2 3
  • Double-Strand Break Repair Protein MRE11A 3 4
  • Double-Strand Break Repair Protein MRE11 3 4
  • Meiotic Recombination 11 Homolog 1 3 4
  • Meiotic Recombination 11 Homolog A 3 4
  • AT-Like Disease 2 3
  • MRE11 Homolog 1 3 4
  • MRE11A 3 4
  • HNGS1 3 4
  • MRE11 Meiotic Recombination 11 Homolog A (S. Cerevisiae) 2
  • MRE11 Homolog, Double Strand Break Repair Nuclease A 3
  • MRE11 Meiotic Recombination 11-Like Protein A 3
  • MRE11 Double Strand Break Repair Nuclease A 3
  • MRE11 Meiotic Recombination 11 Homolog A 3
  • DNA Recombination And Repair Protein 3
  • Endo/Exonuclease Mre11 3
  • MRE11 Homolog A 4
  • EC 3.1.-.- 4
  • MRE11B 3
  • ATLD 3

External Ids for MRE11 Gene

Previous HGNC Symbols for MRE11 Gene

  • MRE11A

Previous GeneCards Identifiers for MRE11 Gene

  • GC11M094416

Summaries for MRE11 Gene

Entrez Gene Summary for MRE11 Gene

  • This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

CIViC summary for MRE11 Gene

GeneCards Summary for MRE11 Gene

MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease) is a Protein Coding gene. Diseases associated with MRE11 include Ataxia-Telangiectasia-Like Disorder 1 and Nijmegen Breakage Syndrome-Like Disorder. Among its related pathways are Meiosis and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).

UniProtKB/Swiss-Prot for MRE11 Gene

  • Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11 (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). RAD50 may be required to bind DNA ends and hold them in close proximity (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289, PubMed:30612738). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).

Gene Wiki entry for MRE11 Gene

Additional gene information for MRE11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRE11 Gene

Genomics for MRE11 Gene

GeneHancer (GH) Regulatory Elements for MRE11 Gene

Promoters and enhancers for MRE11 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
GH11J094492 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 630.5 +18.5 18484 3.4 ZFX CC2D1A SP1 ELF3 NKRF POLR2A RERE AHR SP7 ELF1 MRE11 ANKRD49 ENSG00000255893 MED17 CEP295
GH11J094512 Promoter/Enhancer 1.3 Ensembl ENCODE 630.7 -0.5 -516 1.8 ZNF148 NKRF CEBPG SP7 SP1 PKNOX1 RFX1 ZIC2 CEBPA LARP7 MRE11 C11orf97 FUT4 PIWIL4
GH11J094472 Promoter/Enhancer 1.3 Ensembl ENCODE 75.3 +38.8 38829 1.9 SP1 ZNF687 CREM MLLT1 ZBED1 IKZF1 BACH1 IKZF2 TRIM22 PKNOX1 ENSG00000255893 MRE11 MIR548L
GH11J094543 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 41.1 -33.4 -33416 8.4 ZFX NKRF MLLT1 ZNF121 GTF2F1 ZNF687 ZSCAN21 NCOA3 NCOA6 TRIM24 FUT4 GC11M094542 PIWIL4 MRE11 MED17 CEP295 ANKRD49 SNORA1 ENSG00000255893 LINC02700
GH11J094127 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.6 +379.7 379700 10.4 ZFX CC2D1A ELF3 MNT CBFA2T2 ZNF148 NKRF MLLT1 CEBPG POLR2A PANX1 MED17 SNORA1 MRE11 ANKRD49 HEPHL1 CEP295 ENSG00000255445 ENSG00000255893 FUT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRE11 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MRE11 Gene

Genomic Locations for MRE11 Gene
chr11:94,415,578-94,512,185
(GRCh38/hg38)
Size:
96,608 bases
Orientation:
Minus strand
chr11:94,150,466-94,227,074
(GRCh37/hg19)
Size:
76,609 bases
Orientation:
Minus strand

Genomic View for MRE11 Gene

Genes around MRE11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRE11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRE11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRE11 Gene

Proteins for MRE11 Gene

  • Protein details for MRE11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49959-MRE11_HUMAN
    Recommended name:
    Double-strand break repair protein MRE11
    Protein Accession:
    P49959
    Secondary Accessions:
    • B3KTC7
    • O43475

    Protein attributes for MRE11 Gene

    Size:
    708 amino acids
    Molecular mass:
    80593 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the MRN complex composed of two heterodimers RAD50/MRE11 associated with a single NBN (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:10839544, PubMed:26215093). As part of the MRN complex, interacts with MCM9; the interaction recruits the complex to DNA repair sites (PubMed:26215093). Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11 and NBN (PubMed:10783165). Found in a complex with TERF2 (PubMed:10888888). Interacts with DCLRE1C/Artemis and DCLRE1B/Apollo (PubMed:15456891, PubMed:15723659, PubMed:18469862). Interacts with ATF2 (PubMed:15916964). Interacts with EXD2 (PubMed:26807646). Interacts with MRNIP (PubMed:27568553). Interacts with SAMHD1; leading to stimulate 3'-5' exonuclease activity (PubMed:28834754, PubMed:29670289). Interacts (when ubiquitinated) with UBQLN4 (via its UBA domain) (PubMed:30612738).
    • (Microbial infection) Interacts with herpes simplex virus 1 protein UL12 (PubMed:20943970).
    Miscellaneous:
    • In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.

    Three dimensional structures from OCA and Proteopedia for MRE11 Gene

    Alternative splice isoforms for MRE11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRE11 Gene

Post-translational modifications for MRE11 Gene

  • Ubiquitinated following DNA damage. Ubiquitination triggers interaction with UBQLN4, leading to MRE11 removal from chromatin and degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for MRE11

No data available for DME Specific Peptides for MRE11 Gene

Domains & Families for MRE11 Gene

Gene Families for MRE11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MRE11 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38069 fis, clone CTONG2015434, highly similar to DOUBLE-STRAND BREAK REPAIR PROTEIN MRE11A (B3KTC7_HUMAN)
  • Meiotic recombination 11 homolog A (MRE11_HUMAN)
  • MRE11A protein (Q05D78_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49959

UniProtKB/Swiss-Prot:

MRE11_HUMAN :
  • Belongs to the MRE11/RAD32 family.
Family:
  • Belongs to the MRE11/RAD32 family.
genes like me logo Genes that share domains with MRE11: view

Function for MRE11 Gene

Molecular function for MRE11 Gene

UniProtKB/Swiss-Prot Function:
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11 (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). RAD50 may be required to bind DNA ends and hold them in close proximity (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289, PubMed:30612738). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).
UniProtKB/Swiss-Prot EnzymeRegulation:
Interaction with SAMHD1 stimulates the double-strand-specific 3'-5' exonuclease activity.

Enzyme Numbers (IUBMB) for MRE11 Gene

Phenotypes From GWAS Catalog for MRE11 Gene

Gene Ontology (GO) - Molecular Function for MRE11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IDA 9705271
GO:0003677 contributes_to DNA binding IDA 15790808
GO:0003690 double-stranded DNA binding TAS 10802669
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
GO:0004518 nuclease activity TAS,IEA 15790808
genes like me logo Genes that share ontologies with MRE11: view
genes like me logo Genes that share phenotypes with MRE11: view

Human Phenotype Ontology for MRE11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MRE11 Gene

MGI Knock Outs for MRE11:

Animal Model Products

CRISPR Products

miRNA for MRE11 Gene

miRTarBase miRNAs that target MRE11

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRE11

Clone Products

  • Applied Biological Materials (abm): Clones for MRE11 - Now 50% OFF >
  • * MRE11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MRE11 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for MRE11

No data available for Transcription Factor Targets and HOMER Transcription for MRE11 Gene

Localization for MRE11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRE11 Gene

Nucleus. Chromosome, telomere. Chromosome. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000269 PubMed:10783165, ECO:0000269 PubMed:26215093, ECO:0000269 PubMed:30612738}.

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 MRE11 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRE11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0000784 colocalizes_with nuclear chromosome, telomeric region ISS,IBA --
GO:0005634 nucleus TAS,IEA 10802669
GO:0005654 nucleoplasm IDA,TAS --
GO:0005657 replication fork IDA 29290612
genes like me logo Genes that share ontologies with MRE11: view

Pathways & Interactions for MRE11 Gene

genes like me logo Genes that share pathways with MRE11: view

SIGNOR curated interactions for MRE11 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MRE11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000019 regulation of mitotic recombination TAS 8530104
GO:0000723 telomere maintenance IBA 21873635
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with MRE11: view

Drugs & Compounds for MRE11 Gene

(4) Drugs for MRE11 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 41

(2) Additional Compounds for MRE11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MRE11: view

Transcripts for MRE11 Gene

mRNA/cDNA for MRE11 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRE11

Clone Products

  • Applied Biological Materials (abm): Clones for MRE11 - Now 50% OFF >
  • * MRE11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MRE11 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for MRE11

Alternative Splicing Database (ASD) splice patterns (SP) for MRE11 Gene

No ASD Table

Relevant External Links for MRE11 Gene

GeneLoc Exon Structure for
MRE11
ECgene alternative splicing isoforms for
MRE11

Expression for MRE11 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRE11 Gene:

MRE11

Evidence on tissue expression from TISSUES for MRE11 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Blood(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MRE11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Thorax:
  • breast
Limb:
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MRE11 Gene

Orthologs for MRE11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRE11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRE11A 35 34
  • 98.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRE11A 35 34
  • 92.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRE11A 35
  • 92 (a)
OneToOne
GPR83 34
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia MRE11A 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRE11A 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mre11a 17 35 34
  • 84.02 (n)
rat
(Rattus norvegicus)
Mammalia Mre11a 34
  • 83.31 (n)
chicken
(Gallus gallus)
Aves MRE11A 35 34
  • 72.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRE11A 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mre11a 34
  • 68.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia mre11-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii mre11a 34
  • 66.34 (n)
wufc38f05 34
fruit fly
(Drosophila melanogaster)
Insecta mre11 35 34
  • 50.47 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006797 34
  • 48.36 (n)
worm
(Caenorhabditis elegans)
Secernentea mre-11 35 34
  • 52.52 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06930g 34
  • 54.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRE11 37 35 34
  • 52.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR553C 34
  • 47.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MRE11 34
  • 49.36 (n)
rice
(Oryza sativa)
Liliopsida Os04g0635900 34
  • 52.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
Cin.4753 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad32 34
  • 54.22 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08730 34
  • 50.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4753 34
Species where no ortholog for MRE11 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MRE11 Gene

ENSEMBL:
Gene Tree for MRE11 (if available)
TreeFam:
Gene Tree for MRE11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRE11: view image

Paralogs for MRE11 Gene

Pseudogenes.org Pseudogenes for MRE11 Gene

genes like me logo Genes that share paralogs with MRE11: view

No data available for Paralogs for MRE11 Gene

Variants for MRE11 Gene

Sequence variations from dbSNP and Humsavar for MRE11 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1001831519 likely-benign, Hereditary cancer-predisposing syndrome 94,464,153(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1025272236 uncertain-significance, Hereditary cancer-predisposing syndrome 94,485,924(-) T/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1028566396 uncertain-significance, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 94,445,877(-) C/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1047206353 likely-benign, Hereditary cancer-predisposing syndrome 94,471,588(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs104895004 not-provided, uncertain-significance, not provided, Ataxia-telangiectasia-like disorder 1 94,418,192(-) C/A/T 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MRE11 Gene

Variant ID Type Subtype PubMed ID
esv2575562 CNV deletion 19546169
esv2671948 CNV deletion 23128226
nsv443 CNV insertion 18451855
nsv523083 CNV gain 19592680
nsv820080 CNV loss 19587683
nsv832233 CNV gain 17160897

Variation tolerance for MRE11 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRE11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRE11
Human Gene Mutation Database (HGMD)
MRE11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRE11 Gene

Disorders for MRE11 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MRE11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MRE11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRE11_HUMAN
  • Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391]: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. {ECO:0000269 PubMed:10612394}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in MRE11 can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. A homozygous truncating mutation MRE11 has been found in patients with cerebellar vermis hypoplasia, ataxia and dysarthria. {ECO:0000269 PubMed:22863007}.

Additional Disease Information for MRE11

genes like me logo Genes that share disorders with MRE11: view

No data available for Genatlas for MRE11 Gene

Publications for MRE11 Gene

  1. Isolation and characterization of the human MRE11 homologue. (PMID: 8530104) Petrini JH … Weaver DT (Genomics 1995) 2 3 4 23 58
  2. Alterations of the double-strand break repair gene MRE11 in cancer. (PMID: 11196167) Fukuda T … Miyagawa K (Cancer research 2001) 3 4 23 58
  3. Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. (PMID: 10888888) Zhu XD … de Lange T (Nature genetics 2000) 3 4 23 58
  4. The 3' to 5' exonuclease activity of Mre 11 facilitates repair of DNA double-strand breaks. (PMID: 9651580) Paull TT … Gellert M (Molecular cell 1998) 3 4 23 58
  5. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. (PMID: 9705271) Trujillo KM … Sung P (The Journal of biological chemistry 1998) 3 4 23 58

Products for MRE11 Gene

Sources for MRE11 Gene

Content
Loading form....