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Utrn Gene Detail
Summary
  • Symbol
    Utrn
  • Name
    utrophin
  • Synonyms
    Dmdl, DRP, G-utrophin
  • Feature Type
    protein coding gene
  • IDs
    MGI:104631
    NCBI Gene: 22288
  • Gene Overview
    MyGene.info: UTRN
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr10:12382188-12869365 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      487178 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 3.77 cM
  • Mapping Data
    4 experiments
  • Sequence Tag
    D10Smh1
Homology
more
  • Human Ortholog
    UTRN, utrophin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    UTRN, utrophin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DMDL, DRP, DRP1
  • Links
    NCBI Gene ID: 7402
    neXtProt AC: NX_P46939
    UniProt: P46939

  • Chr Location
    6q24.2; chr6:144284955-144853034 (+)  GRCh38.p7
Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 3 genetic backgrounds
    37 phenotypes from multigenic genotypes
    95 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 null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    10
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
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
    260
  • Tissues
    103
  • cDNA Data
    23
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019820 Ensembl Gene Model | MGI Sequence Detail 487178 C57BL/6J ±  kb
    transcript ENSMUST00000218635 Ensembl | MGI Sequence Detail 11801 Not Applicable  
    polypeptide ENSMUSP00000151431 Ensembl | MGI Sequence Detail 3430 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      3072 from dbSNP Build 142
    • RFLP
      3
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 3
      cDNA 27
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-26068, MGD-MRK-8870, MGI:2143500
    References
    more
    • Summaries
      All 192
      Developmental Gene Expression 25
      Diseases 4
      Gene Ontology 10
      Phenotypes 95
    • Earliest
      J:28687 Love DR, et al., An autosomal transcript in skeletal muscle with homology to dystrophin. Nature. 1989 May 4;339(6219):55-8
    • Latest
      J:256511 Chung HS, et al., Transient receptor potential channel 6 regulates abnormal cardiac S-nitrosylation in Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 Dec 12;114(50):E10763-E10771
    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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    Send questions and comments to User Support.     		last database update
    06/12/2018
    MGI 6.12     		The Jackson Laboratory