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 Ensembl 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.

 
Mutations Annotated to Human Diseases (2)   

Interactions

Utrn interacts with 412 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (25 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 (258)    Tissues (102)    Images (30)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	3
RNA in situ	163
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 Model	ENSMUSG00000019820 (Evidence)
Entrez Gene	22288 (Evidence)
DFCI	TC1603351, TC1597956, TC1592750, TC1675774, TC1643578, TC1632156
DoTS	DT.491253, DT.110586440, DT.110586398, DT.103572516, DT.101380302, DT.101380301, DT.97335206, DT.91394685
NIA Mouse Gene Index	U084923, U031542
Consensus CDS Project	CCDS35841.1
International Mouse Knockout Project Status	Utrn

Sequences

Length	Strain/Species
genomic	ENSMUSG00000019820	Ensembl Gene Model | MGI Sequence Detail	479548	C57BL/6J
transcript	ENSMUST00000076817	Ensembl | MGI Sequence Detail	12382	Not Applicable
polypeptide	ENSMUSP00000076093	Ensembl | MGI Sequence Detail	3430	Not Applicable

All sequences(79) RefSeq(28) UniProt(8)

Polymorphisms

RFLP(3) : SNPs within 2kb(3057 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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:213595 Lu A, et al., Rapid depletion of muscle progenitor cells in dystrophic mdx/utrophin-/- mice. Hum Mol Genet. 2014 Sep 15;23(18):4786-800
All references(157)
Disease annotation references (2)

Other
accession IDs

MGD-MRK-26068, MGD-MRK-8870, MGI:2143500