Utrn MGI Mouse Gene Detail - MGI:104631

Utrn Gene Detail

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

Sequence Map

Chr10:12382188-12861735 bp, - strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
Download
Sequence

479548 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 3.77 cM
Mapping Data

4 experiments
Sequence Tag

D10Smh1

Human Ortholog

UTRN, utrophin

Vertebrate Orthologs

10

Human Ortholog

UTRN, utrophin
Orthology source: HomoloGene, HGNC
Synonyms

DMDL, DRP, DRP1
Links

HGNC:12635

NCBI Gene ID: 7402

neXtProt AC: NX_P46939
Chr Location

6q24; chr6:144285298-144853034 (+) GRCh38.p2

HomoloGene

Vertebrate Homology Class 21398
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: UTRN
Protein SuperFamily

dystrophin/utrophin
Gene Tree

Utrn

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Mutations/Alleles

2 with disease annotations

References

9 with disease annotations

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Phenotype Summary

7 phenotypes from 2 alleles in 3 genetic backgrounds
34 phenotypes from multigenic genotypes
78 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

223
Gene trapped

218
Targeted

2
Transgenic

3
Incidental Mutations

Mutagenetix , APF , CvDC

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.

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All GO Annotations

25
GO References

9

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

24
Literature Summary

25

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase utrn

ZFIN utrn

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Utrn interacts with 411 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

63
RefSeq

28
UniProt

8
CCDS

CCDS35841.1

Ensembl

ENSMUSG00000019820 (Evidence)
NCBI Gene

22288

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

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SNPs within 2kb

3072 from dbSNP Build 142

RFLP

3

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UniProt

8 Sequences
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR011992 EF-hand domain pair

IPR015153 EF-hand domain, type 1

IPR015154 EF-hand domain, type 2

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat

IPR001202 WW domain

IPR000433 Zinc finger, ZZ-type

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All nucleic 32

Genomic 3

cDNA 28

Primer pair 1

Microarray probesets 7

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

Summaries

All 161

Developmental Gene Expression 25

Diseases 9

Gene Ontology 9

Phenotypes 78
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:234452 McNally EM, et al., Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy. Circulation. 2015 May 5;131(18):1590-8

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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