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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
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:12382188-12869365 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 3.77 cM
  • Mapping Data
    4 experiments
  • Sequence Tag
    D10Smh1
Strain
Comparison
more
  • SNPs within 2kb
    3072 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104631
 protein coding gene Chr10:12382187-12869888 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017015
 protein coding gene Chr10:9743964-10253298 (-)
A/J MGP_AJ_G0016993
 protein coding gene Chr10:9330337-9860939 (-)
AKR/J MGP_AKRJ_G0016957
 protein coding gene Chr10:9597660-10095174 (-)
BALB/cJ MGP_BALBcJ_G0016951
 protein coding gene Chr10:9378140-9862939 (-)
C3H/HeJ MGP_C3HHeJ_G0016776
 protein coding gene Chr10:9740928-10244886 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017413
 protein coding gene Chr10:10020269-10533130 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015118
 protein coding gene Chr10:8641032-9134273 (-)
CAST/EiJ MGP_CASTEiJ_G0016358
 protein coding gene Chr10:9571492-10077640 (-)
CBA/J MGP_CBAJ_G0016748
 protein coding gene Chr10:10370534-10906130 (-)
DBA/2J MGP_DBA2J_G0016856
 protein coding gene Chr10:9283589-9765854 (-)
FVB/NJ MGP_FVBNJ_G0016851
 protein coding gene Chr10:9124143-9615409 (-)
LP/J MGP_LPJ_G0016931
 protein coding gene Chr10:9597823-10095460 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016881
 protein coding gene Chr10:10317366-10834975 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017451
 protein coding gene Chr10:9482705-9974206 (-)
PWK/PhJ MGP_PWKPhJ_G0016143
 protein coding gene Chr10:9139163-9639261 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015926
 protein coding gene Chr10:9584370-10089877 (-)
WSB/EiJ MGP_WSBEiJ_G0016420
 protein coding gene Chr10:9510958-10004295 (-)



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
    109 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
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
    891
  • Tissues
    103
  • cDNA Data
    24
  • Literature Summary
    26
  • 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 ENSMUST00000076817 Ensembl | MGI Sequence Detail 12382 Not Applicable  
    polypeptide ENSMUSP00000076093 Ensembl | MGI Sequence Detail 3430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 3
      cDNA 28
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-26068, MGD-MRK-8870, MGI:2143500
    References
    more
    • Summaries
      All 209
      Developmental Gene Expression 26
      Diseases 4
      Gene Ontology 10
      Phenotypes 109
    • 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:284199 Wood CL, et al., A comparison of the bone and growth phenotype of mdx, mdx:Cmah(-/-) and mdx:Utrn (+/-) murine models with the C57BL/10 wild-type mouse. Dis Model Mech. 2020 Jan 10;13(2)
    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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    05/19/2020
    MGI 6.15     		The Jackson Laboratory