MRE11A Gene
protein-coding GIFtS: 70
GCID: GC11M094150
|
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)(Previous name: meiotic recombination (S. cerevisiae) 11 homolog A )
(Previous symbol: MRE11)
| |
Aliases
for MRE11A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| MRE11 Meiotic Recombination 11 Homolog A (S. Cerevisiae)1 2 | | MRE11 Homolog A2 3 | | MRE111 2 3 5 | | Meiotic Recombination (S. Cerevisiae) 11 Homolog A1 | | ATLD1 2 5 | | MRE11B2 | | Meiotic Recombination 11 Homolog 12 3 | | AT-Like Disease2 | | Meiotic Recombination 11 Homolog A2 3 | | DNA Recombination And Repair Protein2 | | HNGS12 3 | | Double-Strand Break Repair Protein MRE11A2 | | MRE11 Homolog 12 3 | | Endo/Exonuclease Mre112 |
Export aliases for MRE11A gene to outside databasesPrevious GC identifers: GC11M096483 GC11M095658 GC11M094335 GC11M093838 GC11M093790 GC11M090216 |
Summaries
for MRE11A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MRE11A:
This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNAdouble-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. Theprotein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends andpossesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNAligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends ofthe DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in twotranscript variants encoding different isoforms. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: MRE11_HUMAN, P49959Function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNArecombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonucleaseactivity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required tobind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequencehomology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict thenuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be requiredfor DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation
Gene Wiki entry for MRE11A
|
Genomic Views
for MRE11A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MRE11A gene promoter:
HOXA9B HOXA9 AML1a STAT5A POU6F1 (c2) Evi-1 Meis-1b PPAR-gamma1 PPAR-gamma2 Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MRE11A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRE11A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q21 Ensembl cytogenetic band: 11q21 HGNC cytogenetic band: 11q21MRE11A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M094150: view genomic region
(about GC identifiers)
Start:
|
94,150,466 bp from pter |
End:
|
94,227,074 bp from pter |
Size:
|
76,609 bases |
Orientation:
|
minus strand |
|
Proteins
for MRE11A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MRE11_HUMAN, P49959 (See
protein sequence)Recommended Name: Double-strand break repair protein MRE11A Size: 708 amino acids; 80593 Da
Cofactor: Manganese (By similarity)
Subunit: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Componentof the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN (By similarity).Interacts with DCLRE1C/Artemis and DCLRE1B/Apollo
Subcellular location: Nucleus (By similarity). Note=Localizes to discrete nuclear foci after treatment with genotoxicagents (By similarity)
Miscellaneous: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viraloncoproteins, thereby preventing concatenation of viral genomes in infected cells
1 PDB 3D structure from  and Proteopedia  for MRE11A:3T1I (3D)
Secondary accessions: O43475Alternative splicing: 2 isoforms: P49959-1 P49959-2 Explore the universe of human proteins at neXtProt for MRE11A: NX_P49959
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P49959
MRE11A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_005581.2 NP_005582.1
ENSEMBL proteins: ENSP00000325863 ENSP00000385614 ENSP00000326094 ENSP00000376933 ENSP00000440986 ENSP00000439511 ENSP00000442809 Reactome Protein details: P49959
Human Recombinant Protein Products:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
MRE11A for ontologies About GeneDecksing
MRE11A Antibody Products:
Assay Products for MRE11A: |
Protein
Domains /
Families
for MRE11A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MRE11A for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P49959ProtoNet protein and cluster: P49959 1 Blocks protein family: IPB007281 Mre11 DNA-binding presumed domain
UniProtKB/Swiss-Prot: MRE11_HUMAN, P49959Similarity: Belongs to the MRE11/RAD32 family |
Function
for MRE11A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MRE11_HUMAN, P49959Function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNArecombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonucleaseactivity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required tobind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequencehomology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict thenuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be requiredfor DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation Genatlas biochemistry entry for MRE11A:meiotic recombination 11 (yeast RAD52 epistasis group),also involved in DNA double strand break repair
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRE11A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRE11A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for MRE11A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRE11A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRE11A |
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table
MRE11A for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MRE11A:
Animal Models:
Mouse knock-out Mre11atm2.2Dof for MRE11A
12 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Mre11a):
MRE11A for phenotypes About GeneDecksing
|
Pathways & Interactions
for MRE11A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Non-homologous end-joining | | | 2 | Recruitment of repair and signaling proteins to double-strand breaks | | | 3 | Homologous Recombination Repair | | | 4 | Integrated Pancreatic Cancer Pathway | | | 5 | Homologous recombination | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for MRE11A
5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MRE11A (see all 6)
2 
Cell Signaling Technology (CST) Pathways for MRE11A
2  GeneGo (Thomson Reuters) Pathways for MRE11A
5/9  BioSystems Pathways for MRE11A (see all 9)
5/10 
Reactome Pathways for MRE11A (see all 10)
2 
Kegg Pathways (Kegg details for MRE11A):
MRE11A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MRE11A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/896 Interacting proteins for MRE11A (P499591, 2, 3 ENSP000003258634) via UniProtKB, MINT, STRING, and/or I2D (see all 896)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| RAD50 | Q928782, 3, ENSP000002653354 | MINT-6805435 MINT-6805527 MINT-6805327 MINT-7906622 MINT-6805250 MINT-7231003 MINT-6805281 MINT-7906581 MINT-7947479 MINT-6805549 MINT-6805304 MINT-7945693 MINT-6805376 MINT-7906600 MINT-8076071 MINT-8076236 I2D:
score=6 STRING: ENSP00000265335 | | NBN | O609341, 2, 3, ENSP000002654334 | EBI-396513,EBI-494844 MINT-6805435 MINT-6805527 MINT-6805327 MINT-7906622 MINT-6805250 MINT-6805281 MINT-7906581 MINT-7947479 MINT-6805304 MINT-7914712 MINT-7945693 MINT-6805376 MINT-7906600 I2D:
score=7 STRING: ENSP00000265433 | | MDC1 | Q146762, 3 | MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D:
score=3 | | PRKDC | P785272, 3, ENSP000003134204 | MINT-7947479 MINT-7945693 MINT-8076071 MINT-8076236 I2D:
score=2 STRING: ENSP00000313420 | | H2AFX | P161042, 3, ENSP000003643104 | MINT-6805304 MINT-8303402 I2D:
score=4 STRING: ENSP00000364310 |
About this table
Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table
MRE11A for ontologies About GeneDecksing
|
Drugs & Compounds
for MRE11A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MRE11A for compounds About GeneDecksing
 Browse Tocris compounds for MRE11A
1 HMDB Compound for MRE11A About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| Manganese | manganese | 7439-96-5 | -- |
5 Novoseek chemical compound relationships for MRE11A gene About this table
Search CenterWatch for drugs/clinical trials and news about MRE11A / MRE11
|
Transcripts
for MRE11A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MRE11A gene (2 alternative transcripts): NM_005590.3 NM_005591.3 Unigene Cluster for MRE11A: MRE11 meiotic recombination 11 homolog A (S. cerevisiae) Hs.192649 [show with all ESTs]Unigene Representative Sequence: NM_00559011 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000323929(uc001peu.2 uc001pev.2 uc009ywj.2) ENST00000407439
ENST00000323977 ENST00000393241 ENST00000535120 ENST00000536550 ENST00000540013
ENST00000541157 ENST00000536754 ENST00000538923 ENST00000536144
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRE11A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRE11A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): MRE11A (NM_005591) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MRE11A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRE11A |
Additional cDNA sequence: AF022778.1 AF073362.1 AK095388.1 AK308318.1 BC005241.1 BC017823.1 BC063458.1 BT006730.1 U37359.1 7 DOTS entries: DT.441210 DT.86852984 DT.100815706 DT.95268844 DT.442694 DT.120701092 DT.91667350 24/121 AceView cDNA sequences (see all 121): AU116810 AL542543 AA599453 BU622064 AU280269 AA305377 BE327581 BF062725 AI859136 NM_005591 BQ232454 AK095388 CF995678 AA256217 BM718776 BM980027 BQ423332 AA599357 BX280289 BC063458 BU682949 CN480619 AA932162 NM_005590
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for MRE11A About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | · | 22c |
|---|
|
| SP1: | | | | | - | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP4: | | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MRE11A
|
Expression
for MRE11A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MRE11A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGATACAG
About this image
See MRE11A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MRE11A
SOURCE GeneReport for Unigene cluster: Hs.192649
SABiosciences Expression via Pathway-Focused PCR Arrays including MRE11A:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MRE11A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MRE11A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRE11A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRE11A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRE11A |
Orthologs
for MRE11A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MRE11A gene from 10/34 species (see all 34) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mre11a1 , 5 |
meiotic recombination 11 homolog A (S. cerevisiae)1, 5 |
84.02(n)1
88.65(a)1 |
|
9 (4.33 cM)5
175351 NM_018736.21 NP_061206.11
147846545 |
chicken
(Gallus gallus) |
Aves |
MRE11A1 |
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
73.35(n)
74.64(a) |
|
395555 NM_204778.1 NP_990109.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MRE11A6 |
-- |
76(a) |
1 ↔ 1 |
3(195889100-195919029) |
African clawed frog
(Xenopus laevis) |
Amphibia |
mre11-A-prov2 |
putative nuclease Mre11 |
74.72(n) |
|
AF134569.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc38f052 |
Danio rerio cDNA clone MGC64018 IMAGE6793054, complete more |
74.07(n) |
|
BC053202.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
mre111 , 3 |
double-strand break repair endonuclease3
meiotic recombination 111 |
44(a)3
48.32(n)1
43.1(a)1 |
|
32E23
345651 NM_078823.31 NP_523547.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
mre-111 , 3 |
Human MRE11 protein like3
Protein MRE-111 |
39(a)3
50.34(n)1
39.35(a)1 |
|
V(10736734-10739535)3
1794881 NM_073335.31 NP_505736.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
MRE11(YMR224C)4
MRE111 |
Subunit of a complex with Rad50p and Xrs2p (MRX complex) more4
Mre11p1 |
53.28(n)1
44.58(a)1 |
|
13(720653-718575)4
8552641, 4 NP_013951.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
MRE111 |
double-strand break repair protein MRE11 |
48.71(n)
43.36(a) |
|
835514 NM_124806.1 NP_200237.1 |
rice
(Oryza sativa) |
Liliopsida |
Os04g06359001 |
hypothetical protein |
47.68(n)
39.82(a) |
|
4337137 NM_001060547.1 NP_001054012.1 |
ENSEMBL Gene Tree for MRE11A (if available)
TreeFam Gene Tree for MRE11A (if available) |
Paralogs
for MRE11A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MRE11A gene
MRE11A for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MRE11A
PGOHUM00000237832
|
Genomic Variants
for MRE11A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MRE11A (94150466 - 94227074 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MRE11A
2 CNVs: 85953 101302
1 Indel: 58541
Human Gene Mutation Database (HGMD): MRE11A
Locus Specific Mutation Databases (LSDB): MRE11A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRE11A |
|
Disorders
/ Diseases
for MRE11A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MRE11A for disorders About GeneDecksing
OMIM gene information: 600814
OMIM disorders: 604391
UniProtKB/Swiss-Prot: MRE11_HUMAN, P49959
Defects in MRE11A are a cause of ataxia telangiectasia-like disorder (ATLD) [MIM:604391]. ATLD is a diseasewith the same clinical feature than ataxia-telangiectasia but with a somewhat milder clinical course Note=Defects in MRE11A can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessivediseases that affect kidney, retina and brain. A homozygous truncating mutation MRE11A has been found in patients withcerebellar vermis hypoplasia, ataxia and dysarthria
20/43  diseases for MRE11A (see all 43): About MalaCardsataxia-telangiectasia-like disorder cornelia de lange syndrome nijmegen breakage syndrome conjunctivitis
ataxia telangiectasia dna topoisomerase i oculomotor apraxia non-hodgkin lymphoma
cerebellar degeneration xeroderma pigmentosum fanconi's anemia werner syndrome
leukemia/lymphoma apraxia leukemia/lymphoma, t-cell hodgkin's lymphoma
lynch syndrome sporadic breast cancer chronic lymphocytic leukemia breast-ovarian cancer
3 diseases from the University of Copenhagen DISEASES database for MRE11A:Nijmegen breakage syndrome Ataxia telangiectasia Microcephaly 10/15 Novoseek disease relationships for MRE11A gene (see all 15) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ataxia-telangiectasia-like disorder |
95.1 |
8 |
15269180 (2), 15296753 (1), 20087742 (1), 15234984 (1) (see all 6) |
| nijmegen breakage syndrome |
93.4 |
14 |
10391882 (1), 10888888 (1), 12966088 (1), 15026416 (1) (see all 13) |
| ataxia telangiectasia |
83.8 |
18 |
16905549 (1), 19709933 (1), 11196167 (1), 15574327 (1) (see all 17) |
| fanconis anemia |
62.4 |
1 |
11733219 (1) |
| cerebellar degeneration |
61.3 |
2 |
20087742 (1) |
| microsatellite instability |
58.4 |
3 |
16542220 (1), 15048091 (1), 18606567 (1) |
| werner syndrome |
47.7 |
1 |
11733219 (1) |
| colorectal cancer |
30.5 |
4 |
11850399 (2), 15048091 (1), 18830935 (1) |
| chromosomal aberrations |
27.4 |
2 |
12966088 (1), 8530104 (1) |
| cancer |
25 |
11 |
15048091 (4), 18606567 (2), 16417627 (1), 17143500 (1) (see all 6) |
Human Genome Epidemiology (HuGE) Navigator: MRE11A (26 documents)
Export disorders for MRE11A gene to outside databases
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Publications
for MRE11A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for MRE11A gene, integrated from 9 sources (see all 296):
(articles sorted by number of sources associating them with MRE11A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Isolation and characterization of the human MRE11 homologue. (PubMed id 8530104)1, 2, 3, 9 Petrini J.H....Weaver D.T. (1995)
- Alterations of the double-strand break repair gene MRE11 in cancer. (PubMed id 11196167)1, 2, 9 Fukuda T.... Miyagawa K. (2001)
- The 3' to 5' exonuclease activity of Mre 11 facilitates repair of DNA double-strand breaks. (PubMed id 9651580)1, 2, 9 Paull T.T. and Gellert M. (1998)
- Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (2012)
- Snm1B/Apollo mediates replication fork collapse and S Phase checkpoint activation in response to DNA interstrand cross-links. (PubMed id 18469862)1, 2 Bae J.B....Legerski R.J. (2008)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (PubMed id 15723659)1, 2 Chen L.... Mizutani S. (2005)
- Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response. (PubMed id 15456891)1, 2 Zhang X....Legerski R.J. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. (PubMed id 14684699)1, 2 Heikkinen K.... Winqvist R. (2003)
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External Searches for MRE11A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MRE11A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MRE11A gene
(According to HUGE)
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Specialized Databases showing MRE11A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for MRE11A | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for MRE11A | Genetics and Cytogenetics in Oncology and Haematology | | MRE11base | http://bioinf.uta.fi/MRE11Abase/ | | NIEHS-SNPs | http://egp.gs.washington.edu/data/mre11a/ |
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| Patent Information for MRE11A gene:
Search GeneIP for patents involving MRE11A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MRE11A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for MRE11A | | OriGene shRNA RFP for MRE11A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MRE11A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MRE11A | | | OriGene Protein Over-expression Lysate for MRE11A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MRE11A | | OriGene 3'-UTR Clone for MRE11A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRE11A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRE11A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for MRE11A | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRE11A |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRE11A |
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