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Ewsr1 Gene Detail
Summary
  • Symbol
    Ewsr1
  • Name
    Ewing sarcoma breakpoint region 1
  • Synonyms
    Ews
  • Feature Type
    protein coding gene
  • IDs
    MGI:99960
    NCBI Gene: 14030
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:5069689-5099266 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29578 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 3.22 cM, cytoband A1-A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EWSR1, EWS RNA binding protein 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    EWSR1, EWS RNA binding protein 1
    Orthology source: HGNC
  • Synonyms
    bK984G1.4, EWS, EWS-FLI1
  • Links
    NCBI Gene ID: 2130
    neXtProt AC: NX_Q01844
    UniProt: Q01844

  • Chr Location
    22q12.2; chr22:29268009-29300525 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human EWSR1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    60 phenotypes from multigenic genotypes
    25 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.
Homozygous mutant mice exhibit postnatal lethality, defective pre-B cell development, apoptosis of gametes and arrest in gamete maturation due to reduced meiotic recombination leading to infertility, kyphosis, lymphopenia, muscular atrophy, and hypersensitivity to ionizing radiation.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005079 VEGA Gene Model | MGI Sequence Detail 29578 C57BL/6J ±  kb
    transcript OTTMUST00000011348 VEGA | MGI Sequence Detail 2174 Not Applicable  
    polypeptide OTTMUSP00000005288 VEGA | MGI Sequence Detail 661 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      80 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR034869 EWS, RNA recognition motif
      IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
      IPR035979 RNA-binding domain superfamily
      IPR033109 RNA-binding protein EWS
      IPR000504 RNA recognition motif domain
      IPR034870 TAF15/EWS/TLS family
      IPR001876 Zinc finger, RanBP2-type
      IPR036443 Zinc finger, RanBP2-type superfamily
    Molecular
    Reagents
    less
    • All nucleic 336
      cDNA 330
      Primer pair 4
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16765, MGI:2146130
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 4
      Phenotypes 25
    • Earliest
      J:20151 Plougastel B, et al., Cloning and chromosome localization of the mouse Ews gene. Genomics. 1994 Sep 1;23(1):278-81
    • Latest
      J:243043 Svetoni F, et al., Post-transcriptional regulation of FUS and EWS protein expression by miR-141 during neural differentiation. Hum Mol Genet. 2017 Jul 15;26(14):2732-2746

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory