Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RAD50 (RAD50 homolog (S. cerevisiae))

Identity

Other namesNBSLD
RAD502
hRad50
HGNC (Hugo) RAD50
LocusID (NCBI) 10111
Location 5q31.1
Location_base_pair Starts at 131892616 and ends at 131980313 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)RAD50   9816
Cards
Entrez_Gene (NCBI)RAD50  10111  RAD50 homolog (S. cerevisiae)
GeneCards (Weizmann)RAD50
Ensembl (Hinxton)ENSG00000113522 [Gene_View]  chr5:131892616-131980313 [Contig_View]  RAD50 [Vega]
ICGC DataPortalENSG00000113522
cBioPortalRAD50
AceView (NCBI)RAD50
Genatlas (Paris)RAD50
WikiGenes10111
SOURCE (Princeton)NM_005732 NM_133482
Genomic and cartography
GoldenPath (UCSC)RAD50  -  5q31.1   chr5:131892616-131980313 +  5q31.1   [Description]    (hg19-Feb_2009)
EnsemblRAD50 - 5q31.1 [CytoView]
Mapping of homologs : NCBIRAD50 [Mapview]
OMIM604040   613078   
Gene and transcription
Genbank (Entrez)AF057299 AF057300 AK290597 AK307439 BC062603
RefSeq transcript (Entrez)NM_005732 NM_133482
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_021151 NT_034772 NW_001838952 NW_004929323
Consensus coding sequences : CCDS (NCBI)RAD50
Cluster EST : UnigeneHs.633509 [ NCBI ]
CGAP (NCI)Hs.633509
Alternative Splicing : Fast-db (Paris)GSHG0024228
Alternative Splicing GalleryENSG00000113522
Gene ExpressionRAD50 [ NCBI-GEO ]     RAD50 [ SEEK ]   RAD50 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92878 (Uniprot)
NextProtQ92878  [Medical]
With graphics : InterProQ92878
Splice isoforms : SwissVarQ92878 (Swissvar)
Domaine pattern : Prosite (Expaxy)ZN_HOOK (PS51131)   
Domains : Interpro (EBI)P-loop_NTPase [organisation]   Rad50_eukaryotes [organisation]   Rad50_Zn_hook [organisation]   Zn_hook_Rad50 [organisation]  
Related proteins : CluSTrQ92878
Domain families : Pfam (Sanger)Rad50_zn_hook (PF04423)   
Domain families : Pfam (NCBI)pfam04423   
DMDM Disease mutations10111
Blocks (Seattle)Q92878
Human Protein AtlasENSG00000113522 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ92878
HPRD04950
IPIIPI00305282   IPI00549205   IPI00107531   IPI01013687   IPI00658205   IPI00798033   IPI00852595   IPI00878541   IPI00894448   
Protein Interaction databases
DIP (DOE-UCLA)Q92878
IntAct (EBI)Q92878
FunCoupENSG00000113522
BioGRIDRAD50
InParanoidQ92878
Interologous Interaction database Q92878
IntegromeDBRAD50
STRING (EMBL)RAD50
Ontologies - Pathways
Ontology : AmiGOsingle-stranded DNA endodeoxyribonuclease activity  regulation of mitotic recombination  telomere maintenance  double-strand break repair via homologous recombination  DNA catabolic process, endonucleolytic  nuclear chromosome, telomeric region  DNA binding  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  DNA repair  DNA repair  double-strand break repair  double-strand break repair  DNA recombination  cellular response to DNA damage stimulus  telomere maintenance via telomerase  reciprocal meiotic recombination  zinc ion binding  3'-5' exonuclease activity  membrane  protein binding, bridging  Mre11 complex  positive regulation of protein autophosphorylation  DNA duplex unwinding  positive regulation of kinase activity  site of double-strand break  pronucleus  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIsingle-stranded DNA endodeoxyribonuclease activity  regulation of mitotic recombination  telomere maintenance  double-strand break repair via homologous recombination  DNA catabolic process, endonucleolytic  nuclear chromosome, telomeric region  DNA binding  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  DNA repair  DNA repair  double-strand break repair  double-strand break repair  DNA recombination  cellular response to DNA damage stimulus  telomere maintenance via telomerase  reciprocal meiotic recombination  zinc ion binding  3'-5' exonuclease activity  membrane  protein binding, bridging  Mre11 complex  positive regulation of protein autophosphorylation  DNA duplex unwinding  positive regulation of kinase activity  site of double-strand break  pronucleus  nucleic acid phosphodiester bond hydrolysis  
Pathways : BIOCARTAATM Signaling Pathway [Genes]    Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
Pathways : KEGGHomologous recombination    Non-homologous end-joining   
Protein Interaction DatabaseRAD50
Wikipedia pathwaysRAD50
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RAD50
snp3D : Map Gene to Disease10111
SNP (GeneSNP Utah)RAD50
SNP : HGBaseRAD50
Genetic variants : HAPMAPRAD50
Exome VariantRAD50
1000_GenomesRAD50 
ICGC programENSG00000113522 
Somatic Mutations in Cancer : COSMICRAD50 
CONAN: Copy Number AnalysisRAD50 
Mutations and Diseases : HGMDRAD50
Genomic VariantsRAD50  RAD50 [DGVbeta]
dbVarRAD50
ClinVarRAD50
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM604040    613078   
MedgenRAD50
GENETestsRAD50
Disease Genetic AssociationRAD50
Huge Navigator RAD50 [HugePedia]  RAD50 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneRAD50
Homology/Alignments : Family Browser (UCSC)RAD50
Phylogenetic Trees/Animal Genes : TreeFamRAD50
Chemical/Protein Interactions : CTD10111
Chemical/Pharm GKB GenePA34175
Clinical trialRAD50
Cancer Resource (Charite)ENSG00000113522
Other databases
Probes
Litterature
PubMed186 Pubmed reference(s) in Entrez
CoreMineRAD50
iHOPRAD50
OncoSearchRAD50
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:45:20 CEST 2014

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