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Aliases for RAD50 Gene

Aliases for RAD50 Gene

  • RAD50 Double Strand Break Repair Protein 2 3 5
  • RAD50 Homolog, Double Strand Break Repair Protein 2 3
  • HRad50 3 4
  • RAD50 (S. Cerevisiae) Homolog 2
  • RAD50 Homolog (S. Cerevisiae) 2
  • DNA Repair Protein RAD50 3
  • EC 3.6.3.27 58
  • EC 3.6.1.15 58
  • EC 3.6.-.- 4
  • EC 3.6.3 58
  • RAD502 3
  • NBSLD 3

External Ids for RAD50 Gene

Previous GeneCards Identifiers for RAD50 Gene

  • GC05P131414
  • GC05P132339
  • GC05P131923
  • GC05P131968
  • GC05P131920
  • GC05P127084

Summaries for RAD50 Gene

Entrez Gene Summary for RAD50 Gene

  • The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]

CIViC summary for RAD50 Gene

GeneCards Summary for RAD50 Gene

RAD50 (RAD50 Double Strand Break Repair Protein) is a Protein Coding gene. Diseases associated with RAD50 include Nijmegen Breakage Syndrome-Like Disorder and Nijmegen Breakage Syndrome. Among its related pathways are DNA Damage and DNA damage_Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include ATPase activity and ATP-dependent DNA helicase activity. An important paralog of this gene is ENSG00000283782.

UniProtKB/Swiss-Prot for RAD50 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. The complex possesses single-strand endonuclease activity and double-strand-specific 3-5 exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. 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:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). 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 RAD50 Gene

Additional gene information for RAD50 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAD50 Gene

Genomics for RAD50 Gene

Regulatory Elements for RAD50 Gene

Enhancers for RAD50 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H132452 2 FANTOM5 Ensembl ENCODE dbSUPER 53 -88.8 -88776 29 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 AFF4 RAD50 ZCCHC10 IL4 IRF1 SLC22A5 ENSG00000224431 LOC102723741 MIR3936HG C5orf56
GH05H132292 1.8 FANTOM5 ENCODE dbSUPER 47.9 -261.0 -261000 5 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RAD50 AFF4 MIR3936HG IL4 FNIP1 ENSG00000202533 MIR3936 SLC22A5 ENSG00000224431 ENSG00000248648
GH05H132362 1.2 Ensembl ENCODE 53.7 -191.3 -191290 4 FOXA2 SIN3A FEZF1 BRCA1 ZNF2 YY1 FOS TSHZ1 REST ZNF491 RAD50 MIR3936HG AFF4 ENSG00000224431 ENSG00000248648 ZCCHC10 P4HA2 SLC22A4 IL4 ENSG00000202533
GH05H132406 1.6 Ensembl ENCODE dbSUPER 37.9 -143.3 -143283 11 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 YBX1 YY1 ZNF143 ZNF207 RAD50 MIR3936HG ENSG00000224431 MIR3936 ZCCHC10 AFF4 P4HA2 RAPGEF6 ENSG00000202533 LOC105379175
GH05H132484 1.7 FANTOM5 ENCODE dbSUPER 22.7 -67.0 -67017 8 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RAD50 AFF4 IRF1 SLC22A5 LOC102723741 LOC105379175 IL4 ENSG00000202533 RAPGEF6 SLC22A4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAD50 on UCSC Golden Path with GeneCards custom track

Promoters for RAD50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186871 1282 2200 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A ZNF610 GLIS1

Genomic Location for RAD50 Gene

Chromosome:
5
Start:
132,556,019 bp from pter
End:
132,646,344 bp from pter
Size:
90,326 bases
Orientation:
Plus strand

Genomic View for RAD50 Gene

Genes around RAD50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD50 Gene

Proteins for RAD50 Gene

  • Protein details for RAD50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92878-RAD50_HUMAN
    Recommended name:
    DNA repair protein RAD50
    Protein Accession:
    Q92878
    Secondary Accessions:
    • B9EGF5
    • O43254
    • Q6GMT7
    • Q6P5X3
    • Q9UP86

    Protein attributes for RAD50 Gene

    Size:
    1312 amino acids
    Molecular mass:
    153892 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Component of the MRN complex composed of two heterodimers RAD50/MRE11 associated with a single NBN (PubMed:8756642, PubMed:9590181, PubMed:9705271, PubMed:10839544). 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 RINT1 (PubMed:11096100). Interacts with BRCA1 via its N-terminal domain (PubMed:10426999). Interacts with DCLRE1C/Artemis (PubMed:15456891, PubMed:15723659). Interacts with MRNIP (PubMed:27568553).
    • (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.
    SequenceCaution:
    • Sequence=AAH62603.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAD50 Gene

    Alternative splice isoforms for RAD50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD50 Gene

Selected DME Specific Peptides for RAD50 Gene

Q92878:
  • NGAGKTT
  • GPNGAGKT
  • KDLDIYY
  • ELSKAEKN

Post-translational modifications for RAD50 Gene

  • Ubiquitination at Lys62, Lys175, Lys187, Lys211, isoforms=2, 3295, Lys461, Lys845, Lys1119, isoforms=2, 31134, and isoforms=2, 31285
  • Modification sites at PhosphoSitePlus

Other Protein References for RAD50 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAD50 (RAD50)
  • Abcam antibodies for RAD50

Domains & Families for RAD50 Gene

Gene Families for RAD50 Gene

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

Protein Domains for RAD50 Gene

Suggested Antigen Peptide Sequences for RAD50 Gene

Graphical View of Domain Structure for InterPro Entry

Q92878

UniProtKB/Swiss-Prot:

RAD50_HUMAN :
  • The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11 homodimer (By similarity).
  • Belongs to the SMC family. RAD50 subfamily.
Domain:
  • The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11 homodimer (By similarity).
Family:
  • Belongs to the SMC family. RAD50 subfamily.
genes like me logo Genes that share domains with RAD50: view

Function for RAD50 Gene

Molecular function for RAD50 Gene

GENATLAS Biochemistry:
RAD50 (S cerevisiae) homolog,involved in DNA recombinational repair and meiosis specific double strand break formation,complexing with MR11 and NBS1
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. The complex possesses single-strand endonuclease activity and double-strand-specific 3-5 exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. 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:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). 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).

Enzyme Numbers (IUBMB) for RAD50 Gene

Phenotypes From GWAS Catalog for RAD50 Gene

Gene Ontology (GO) - Molecular Function for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 contributes_to single-stranded DNA endodeoxyribonuclease activity IDA 9705271
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IDA 15790808
GO:0003691 double-stranded telomeric DNA binding IBA --
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
genes like me logo Genes that share ontologies with RAD50: view
genes like me logo Genes that share phenotypes with RAD50: view

Human Phenotype Ontology for RAD50 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD50 Gene

MGI Knock Outs for RAD50:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAD50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for RAD50 Gene

Localization for RAD50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD50 Gene

Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000269 PubMed:10783165, ECO:0000269 PubMed:15916964}.

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 RAD50 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0000790 nuclear chromatin IBA --
GO:0000794 condensed nuclear chromosome IBA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RAD50: view

Pathways & Interactions for RAD50 Gene

genes like me logo Genes that share pathways with RAD50: view

SIGNOR curated interactions for RAD50 Gene

Activates:
Other effect:

Gene Ontology (GO) - Biological Process for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000019 regulation of mitotic recombination IDA 8756642
GO:0000722 telomere maintenance via recombination IBA --
GO:0000723 telomere maintenance IEA,TAS 10888888
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
genes like me logo Genes that share ontologies with RAD50: view

Drugs & Compounds for RAD50 Gene

(5) Drugs for RAD50 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for RAD50 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAD50: view

Transcripts for RAD50 Gene

Unigene Clusters for RAD50 Gene

RAD50 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAD50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAD50 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: - -
SP3:

ExUns: 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:

Relevant External Links for RAD50 Gene

GeneLoc Exon Structure for
RAD50
ECgene alternative splicing isoforms for
RAD50

Expression for RAD50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAD50 Gene

Protein differential expression in normal tissues from HIPED for RAD50 Gene

This gene is overexpressed in Lymph node (16.9) and Peripheral blood mononuclear cells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAD50 Gene



Protein tissue co-expression partners for RAD50 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAD50 Gene:

RAD50

SOURCE GeneReport for Unigene cluster for RAD50 Gene:

Hs.633509

mRNA Expression by UniProt/SwissProt for RAD50 Gene:

Q92878-RAD50_HUMAN
Tissue specificity: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.

Evidence on tissue expression from TISSUES for RAD50 Gene

  • Liver(4.4)
  • Adrenal gland(2.2)
  • Nervous system(2.2)
  • Eye(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD50 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • skull
Thorax:
  • breast
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RAD50: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RAD50 Gene

Orthologs for RAD50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD50 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia RAD50 33 34
  • 93.67 (n)
cow
(Bos Taurus)
Mammalia RAD50 33 34
  • 92.66 (n)
oppossum
(Monodelphis domestica)
Mammalia RAD50 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rad50 33 16 34
  • 87.91 (n)
rat
(Rattus norvegicus)
Mammalia Rad50 33
  • 87.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAD50 33 34
  • 74.8 (n)
lizard
(Anolis carolinensis)
Reptilia RAD50 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad50 33
  • 71.49 (n)
zebrafish
(Danio rerio)
Actinopterygii rad50 33 34
  • 67.35 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13354 33
fruit fly
(Drosophila melanogaster)
Insecta rad50 35 33 34
  • 44.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003676 33
  • 43.28 (n)
worm
(Caenorhabditis elegans)
Secernentea rad-50 35 34
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD50 34 36
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons RAD50 33
  • 46.84 (n)
rice
(Oryza sativa)
Liliopsida Os02g0497500 33
  • 46.5 (n)
Os.7297 33
wheat
(Triticum aestivum)
Liliopsida Ta.1241 33
bread mold
(Neurospora crassa)
Ascomycetes NCU00901 33
  • 43.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.731 33
Species where no ortholog for RAD50 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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 RAD50 Gene

ENSEMBL:
Gene Tree for RAD50 (if available)
TreeFam:
Gene Tree for RAD50 (if available)

Paralogs for RAD50 Gene

Paralogs for RAD50 Gene

genes like me logo Genes that share paralogs with RAD50: view

Variants for RAD50 Gene

Sequence variations from dbSNP and Humsavar for RAD50 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121912628 Pathogenic 132,618,182(+) AACTT(C/T)GAGAA reference, stop-gained
rs121912629 Pathogenic 132,642,364(+) CATTA(A/T)AAATA intron-variant, upstream-variant-2KB, reference, stop-lost
rs149201802 Pathogenic 132,594,950(+) AGTTA(C/G/T)GAAGA reference, synonymous-codon, stop-gained
rs368980595 Pathogenic 132,618,134(+) TAGGG(A/C/T)GACAG reference, stop-gained
rs373428259 Pathogenic 132,588,872(+) CCAAC(A/C/G/T)AACTG reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for RAD50 Gene

Variant ID Type Subtype PubMed ID
nsv477136 CNV novel sequence insertion 20440878

Variation tolerance for RAD50 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAD50 Gene

Human Gene Mutation Database (HGMD)
RAD50
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD50 Gene

Disorders for RAD50 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RAD50 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nijmegen breakage syndrome-like disorder
  • microcephaly and chromosomal instability without immunodeficiency
nijmegen breakage syndrome
  • berlin breakage syndrome
ataxia-telangiectasia
  • ataxia telangiectasia
hereditary breast ovarian cancer
  • breast/ovarian cancer, hereditary
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search RAD50 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAD50_HUMAN
  • Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. {ECO:0000269 PubMed:19409520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAD50

Genetic Association Database (GAD)
RAD50
Human Genome Epidemiology (HuGE) Navigator
RAD50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAD50
genes like me logo Genes that share disorders with RAD50: view

No data available for Genatlas for RAD50 Gene

Publications for RAD50 Gene

  1. 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) 2 3 4 22 60
  2. Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. (PMID: 8756642) Dolganov GM … Petrini JH (Molecular and cellular biology 1996) 2 3 4 22 60
  3. Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. (PMID: 19917125) Schuetz JM … Brooks-Wilson AR (BMC medical genetics 2009) 3 22 45 60
  4. Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients. (PMID: 19638463) Pugh TJ … Moore RA (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 22 45 60
  5. Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. (PMID: 17932350) Hsu HM … Yu JC (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 22 45 60

Products for RAD50 Gene

Sources for RAD50 Gene

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