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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:53649519-53707319 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 31.98 cM, cytoband A5-B1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    357 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109292
protein coding gene Chr11:53649519-53707319 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018302
protein coding gene Chr11:53057398-53119573 (-)
A/J MGP_AJ_G0018271
protein coding gene Chr11:51054508-51110979 (-)
AKR/J MGP_AKRJ_G0018241
protein coding gene Chr11:52727066-52783354 (-)
BALB/cJ MGP_BALBcJ_G0018242
protein coding gene Chr11:51410594-51467789 (-)
C3H/HeJ MGP_C3HHeJ_G0018053
protein coding gene Chr11:52690079-52749599 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018694
protein coding gene Chr11:54651064-54715825 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016344
protein coding gene Chr11:48594230-48648656 (-)
CAST/EiJ MGP_CASTEiJ_G0017618
protein coding gene Chr11:52738839-52796861 (-)
CBA/J MGP_CBAJ_G0018028
protein coding gene Chr11:57241079-57308317 (-)
DBA/2J MGP_DBA2J_G0018138
protein coding gene Chr11:50804734-50860242 (-)
FVB/NJ MGP_FVBNJ_G0018130
protein coding gene Chr11:50446931-50502224 (-)
LP/J MGP_LPJ_G0018212
protein coding gene Chr11:53502211-53565494 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018154
protein coding gene Chr11:58543927-58601923 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018736
protein coding gene Chr11:52756844-52819365 (-)
PWK/PhJ MGP_PWKPhJ_G0017393
protein coding gene Chr11:51318527-51378025 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017188
protein coding gene Chr11:52558717-52612839 (-)
WSB/EiJ MGP_WSBEiJ_G0017665
protein coding gene Chr11:52386780-52447061 (-)



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: HomoloGene, HGNC
  • Synonyms
    hRad50, NBSLD, RAD502
  • Links
    NCBI Gene ID: 10111
    neXtProt AC: NX_Q92878
    UniProt: Q92878

  • Chr Location
    5q31.1; chr5:132556924-132644621 (+)  GRCh38.p7

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
    26 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19360 NCBI Gene Model | MGI Sequence Detail 57801 C57BL/6J ±  kb
    transcript NM_009012 RefSeq | MGI Sequence Detail 5153 Not Specified  
    polypeptide P70388 UniProt | EBI | MGI Sequence Detail 1312 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • EC
    • InterPro Domains
      IPR004584 DNA repair protein Rad50, eukaryotes
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR038729 Rad50/SbcC-type AAA domain
      IPR013134 RAD50, zinc hook
    Molecular
    Reagents
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    • All nucleic 112
      Genomic 6
      cDNA 102
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38337, MGI:894309
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 3
      Gene Ontology 10
      Phenotypes 26
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:245675 Spehalski E, et al., MRE11 Promotes Tumorigenesis by Facilitating Resistance to Oncogene-Induced Replication Stress. Cancer Res. 2017 Oct 01;77(19):5327-5338

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory