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 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, ...)

View All

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

Sequences

Length	Strain/Species
genomic	22288	NCBI Gene Model | MGI Sequence Detail	479548	C57BL/6J
transcript	NM_011682	RefSeq | MGI Sequence Detail	12382	C57BL/6
polypeptide	NP_035812	RefSeq | MGI Sequence Detail	3430	C57BL/6

All sequences(77) RefSeq(26) 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:208702 Koenig X, et al., Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart. Am J Physiol Heart Circ Physiol. 2014 Feb 15;306(4):H564-73
All references(154)
Disease annotation references (2)

Other accession IDs

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