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Rad50 Gene Detail
Summary
  • Symbol
    Rad50
  • Name
    RAD50 double strand break repair protein
  • Synonyms
    Mrell, Rad50l
  • Feature Type
    protein coding gene
  • IDs
    MGI:109292
    NCBI Gene: 19360
  • Gene Overview
    MyGene.info: RAD50
Location & Maps
more
  • Sequence Map
    Chr11:53649519-53707319 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      57801 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 31.98 cM, cytoband A5-B1
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    RAD50, RAD50 double strand break repair protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RAD50, RAD50 double strand break repair protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    hRad50, NBSLD, RAD502
  • Links
    NCBI Gene ID: 10111
    neXtProt AC: NX_Q92878

  • Chr Location
    5q31; chr5:132556924-132644621 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human RAD50 associations

Human Disease Mouse Models
       Nijmegen Breakage Syndrome-Like Disorder; NBSLD   OMIM: 613078
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    78 phenotypes from 11 alleles in 12 genetic backgrounds
    22 phenotypes from multigenic genotypes
    1 images
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Targeted
    12
  • Transgenic
    1
  • Genomic Mutations
    1 involving Rad50
  • Incidental Mutations
Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005644 VEGA Gene Model | MGI Sequence Detail 57801 C57BL/6J ±  kb
transcript OTTMUST00000012555 VEGA | MGI Sequence Detail 5153 Not Applicable  
polypeptide OTTMUSP00000005819 VEGA | MGI Sequence Detail 1312 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    357 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000013671 DNA repair protein RAD50
  • EC
  • InterPro Domains
    IPR004584 DNA repair protein Rad50, eukaryotes
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR013134 RAD50, zinc hook
Molecular
Reagents
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  • All nucleic 110
    Genomic 6
    cDNA 101
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-38337, MGI:894309
References
more
  • Summaries
    All 52
    Developmental Gene Expression 3
    Gene Ontology 9
    Phenotypes 24
  • Earliest
    J:36725 Kim KK, et al., Mouse RAD50 has limited epitopic homology to p53 and is expressed in the adult myocardium. J Biol Chem. 1996 Nov 15;271(46):29255-64
  • Latest
    J:212499 Kim LK, et al., Oct-1 regulates IL-17 expression by directing interchromosomal associations in conjunction with CTCF in T cells. Mol Cell. 2014 Apr 10;54(1):56-66

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory