Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4361
Gene name Gene Name - the full gene name approved by the HGNC.
MRE11 double strand break repair nuclease
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRE11
Synonyms (NCBI Gene) Gene synonyms aliases
ATLD, HNGS1, MRE11A, MRE11B
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q21
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3218740 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs61749249 G>A,T Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
rs116679717 C>G,T Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs137852759 G>A,C,T Pathogenic Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant
rs137852760 T>C Uncertain-significance, pathogenic-likely-pathogenic Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT714212 hsa-miR-99a-3p HITS-CLIP 19536157
MIRT714211 hsa-miR-99b-3p HITS-CLIP 19536157
MIRT714210 hsa-miR-6796-3p HITS-CLIP 19536157
MIRT714209 hsa-miR-130b-5p HITS-CLIP 19536157
MIRT714208 hsa-miR-3124-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000014 Function Single-stranded DNA endodeoxyribonuclease activity IBA 21873635
GO:0000014 Function Single-stranded DNA endodeoxyribonuclease activity IDA 9705271
GO:0000019 Process Regulation of mitotic recombination TAS 8530104
GO:0000723 Process Telomere maintenance IBA 21873635
GO:0000724 Process Double-strand break repair via homologous recombination IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600814 7230 ENSG00000020922
Protein
UniProt ID P49959
Protein name Double-strand break repair protein MRE11 (EC 3.1.-.-) (Meiotic recombination 11 homolog 1) (MRE11 homolog 1) (Meiotic recombination 11 homolog A) (MRE11 homolog A)
Protein function Core 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:11741547, PubMed:14657032, PubMed:22078559, PubMed:23080121, PubMed:24316
PDB 3T1I , 7ZQY , 8BAH , 8K00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 13 249 Calcineurin-like phosphoesterase Domain
PF04152 Mre11_DNA_bind 294 461 Mre11 DNA-binding presumed domain Domain
Sequence
MSTADALDDENTFKILVATDIHLGFMEKDAVRGNDTFVTLDEILRLAQENEVDFILLGGD
LFHENKPSRKTLHTCLELLRKYCMGDRPVQFEILSDQSVNFGFSKFPWVNYQDGNLNISI
PVFSIHGNHDDPTGADALCALDILSCAGFVNHFGRSMSVEKIDISPVLLQKGSTKIALYG
LGSIPDERLYRMFVNKKVTMLRPKEDENSWFNLFVIHQNRSKHGSTNFIPEQFLDDFIDL
VIWGHEHEC
KIAPTKNEQQLFYISQPGSSVVTSLSPGEAVKKHVGLLRIKGRKMNMHKIP
LHTVRQFFMEDIVLANHPDIFNPDNPKVTQAIQSFCLEKIEEMLENAERERLGNSHQPEK
PLVRLRVDYSGGFEPFSVLRFSQKFVDRVANPKDIIHFFRHREQKEKTGEEINFGKLITK
PSEGTTLRVEDLVKQYFQTAEKNVQLSLLTERGMGEAVQEF
VDKEEKDAIEELVKYQLEK
TQRFLKERHIDALEDKIDEEVRRFRETRQKNTNEEDDEVREAMTRARALRSQSEESASAF
SADDLMSIDLAEQMANDSDDSISAATNKGRGRGRGRRGGRGQNSASRGGSQRGRADTGLE
TSTRSRNSKTAVSASRNMSIIDAFKSTRQQPSRNVTTKNYSEVIEVDESDVEEDIFPTTS
KTDQRWSSTSSSKIMSQSQVSKGVDFESSEDDDDDPFMNTSSLRRNRR
Sequence length 708
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Homologous recombination
Non-homologous end-joining
Cellular senescence
  Cytosolic sensors of pathogen-associated DNA
DNA Damage/Telomere Stress Induced Senescence
IRF3-mediated induction of type I IFN
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ataxia-oculomotor apraxia ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA rs587776593, rs121908131, rs587776594, rs121908132, rs121908133, rs1587330671, rs104894103, rs267606665, rs587784365, rs587784366, rs786203983, rs886037744, rs1555810613, rs786205207, rs201912053
View all (5 more)
10612394
Ataxia-telangiectasia-like disorder ATAXIA-TELANGIECTASIA-LIKE DISORDER, Ataxia-Telangiectasisa-Like Disorder 1, Ataxia-telangiectasia-like disorder rs137852759, rs137852761, rs137852762, rs587781381, rs587781384, rs371077728, rs587781822, rs745677716, rs774277300, rs774440500, rs786203931, rs786202253, rs747832587, rs863224508, rs779269083
View all (26 more)
11371508, 27329137, 21227757, 10612394, 29348823, 23080121, 25452441, 23912341, 24763289, 25503501, 15269180, 19383352, 25040471, 14690604, 28559769
View all (4 more)
Breast cancer Malignant neoplasm of breast, Breast Cancer, Familial rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
28073364, 9651580, 14511253, 14690604, 10426999
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Specific learning disorder Specific learning disability ClinVar
Ataxia-Telangiectasia-Like Disorder ataxia-telangiectasia-like disorder 1 GenCC
Breast Carcinoma hereditary breast carcinoma GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 16948520, 40181846
Anemia Hemolytic Associate 15257300
Apraxia oculomotor Cogan type Associate 21324166
Arrest of spermatogenesis Associate 31983050
Arthritis Rheumatoid Associate 19451263
Ataxia Associate 24030952
Ataxia Telangiectasia Associate 10612394, 14747472, 18413776, 19444312, 20647759, 33571423, 9315668
Ataxia Telangiectasia Like Disorder Associate 10612394, 11850399, 12966088, 14747472, 15047855, 15234984, 16417627, 19409520, 22139912, 23080121, 23912341, 24733832, 32211858, 32212377
ATR X syndrome Associate 23329831, 31628488
Bloom Syndrome Associate 11916980, 15257300