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Utrn
Gene Detail
 Symbol
Name
ID
Utrn
utrophin
MGI:104631
STS D10Smh1
Synonyms Dmdl, DRP, G-utrophin
Feature Type protein coding gene
Genetic Map
Chromosome 10
3.77 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr10:12382188-12861735 bp, - strand
From NCBI annotation of GRCm38

  479548 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21398  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: dystrophin/utrophin
Gene Tree: Utrn

Human
homologs
Human Homolog UTRN, utrophin
NCBI Gene ID 7402
neXtProt AC  NX_P46939
Human Synonyms  DMDL, DRP, DRP1
Human Chr (Location)  6q24; chr6:144286354-144853034 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(220) : Gene trapped(218) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Alleles Annotated to Human Diseases(2)   
Interactions
Utrn interacts with 412 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process adult somatic muscle development, neuromuscular junction development, ...
Component contractile ring, cortical actin cytoskeleton, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (25 records)
Data Summary: Results (255)    Tissues (102)    Images (30)
Theiler Stages: 15, 20, 23, 26, 28
Assay TypeResults
Immunohistochemistry 3
RNA in situ 160
RT-PCR 92
cDNA source data(24)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(32) Genomic(3) cDNA(28) Primer pair(1)
Microarray probesets(7)
Other database
links
Ensembl Gene ModelENSMUSG00000019820 (Evidence)
Entrez Gene22288 (Evidence)
DFCITC1592750, TC1597956, TC1603351, TC1632156, TC1643578, TC1675774
DoTSDT.101380301, DT.101380302, DT.103572516, DT.110586398, DT.110586440, DT.491253, DT.91394685, DT.97335206
NIA Mouse Gene IndexU031542, U084923
Consensus CDS ProjectCCDS35841.1
International Mouse Knockout Project StatusUtrn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 22288 NCBI Gene Model | MGI Sequence Detail 479548 C57BL/6J ±  kb
transcript NM_011682 RefSeq | MGI Sequence Detail 12382 C57BL/6 
polypeptide NP_035812 RefSeq | MGI Sequence Detail 3430 C57BL/6 

For the selected sequences
All sequences(77) RefSeq(26) UniProt(8)
Polymorphisms RFLP(3) : SNPs within 2kb(3057 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR016344 Dystrophin/utrophin
InterPro IPR015153 EF-hand domain, type 1
InterPro IPR015154 EF-hand domain, type 2
InterPro IPR011992 EF-hand-like domain
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR002017 Spectrin repeat
InterPro IPR001202 WW domain
InterPro IPR000433 Zinc finger, ZZ-type
Protein Ontology PR:000017209 utrophin
References (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:212562 McDonald AA, et al., Dystrophic changes in extraocular muscles after gamma irradiation in mdx:utrophin(+/-) mice. PLoS One. 2014;9(1):e86424
All references(155)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-26068, MGD-MRK-8870, MGI:2143500

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
09/23/2014
MGI 5.19
The Jackson Laboratory