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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:53540346-53598146 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 31.98 cM, cytoband A5-B1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1240 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 Chr11:53540346-53598146 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAD50, RAD50 double strand break repair protein
  • Synonyms
    hRad50, NBSLD, RAD502
  • Links
    NCBI Gene ID: 10111
    neXtProt AC: NX_Q92878
    UniProt: Q92878

  • Chr Location
    5q31.1; chr5:132556019-132646349 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human RAD50 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    78 phenotypes from 11 alleles in 12 genetic backgrounds
    21 phenotypes from multigenic genotypes
    1 images
    27 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
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
neoplasm
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
less
  • All GO Annotations
    79
  • GO References
    21
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    751
  • Tissues
    35
  • cDNA Data
    99
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    Molecular
    Reagents
    less
    • All nucleic 114
      Genomic 6
      cDNA 102
      Primer pair 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38337, MGI:894309
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 5
      Gene Ontology 21
      Phenotypes 27
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:350930 Liu Y, et al., A Rad50-null mutation in mouse germ cells causes reduced DSB formation, abnormal DSB end resection and complete loss of germ cells. Development. 2024 Apr 15;151(8):dev202312
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory