This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendin... See more...

Aliases for UTRN Gene

Aliases for UTRN Gene

  • Utrophin 2 3 4 5
  • Dystrophin-Related Protein 1 3 4
  • DRP-1 3 4
  • DMDL 3 4
  • DRP1 3 4
  • Utrophin (Homologous To Dystrophin) 2
  • DRP 3

External Ids for UTRN Gene

Previous HGNC Symbols for UTRN Gene

  • DMDL

Previous GeneCards Identifiers for UTRN Gene

  • GC06P144236
  • GC06P144460
  • GC06P144593
  • GC06P144654
  • GC06P142176

Summaries for UTRN Gene

Entrez Gene Summary for UTRN Gene

  • This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for UTRN Gene

UTRN (Utrophin) is a Protein Coding gene. Diseases associated with UTRN include Muscular Dystrophy, Becker Type and Neuromuscular Disease. Among its related pathways are Agrin Interactions at Neuromuscular Junction and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is DMD.

UniProtKB/Swiss-Prot Summary for UTRN Gene

  • May play a role in anchoring the cytoskeleton to the plasma membrane.

Gene Wiki entry for UTRN Gene

Additional gene information for UTRN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UTRN Gene

Genomics for UTRN Gene

GeneHancer (GH) Regulatory Elements for UTRN Gene

Promoters and enhancers for UTRN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J144283 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 505.5 +0.7 700 4.4 CTCF TCF12 POLR2G USF1 TEAD4 ZFX ZIC2 POLR2A ZBTB10 ZNF423 UTRN lnc-UTRN-1 ADAT2 LTV1 TPT1P4 TUBB8P2 PLAGL1 ENSG00000270890 VDAC1P8 ENSG00000225311
GH06J144797 Enhancer 0.8 Ensembl ENCODE 13.5 +513.2 513203 2.2 TCF12 JUND EP300 NR2F2 REST FOS FOSL2 JUN EZH2 FOXA1 UTRN piR-44878-031 NONHSAG045065.2
GH06J144726 Enhancer 0.9 Ensembl ENCODE 11.2 +442.7 442716 5.2 ZIC2 OSR2 TCF12 MEF2B ESR1 ZFHX2 BATF IKZF1 NR2F1 PRDM6 UTRN ENSG00000220739 lnc-SF3B5-5 HSALNG0054083
GH06J144346 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +66.2 66215 10.6 SIN3A JUND FOS EP300 ZBTB25 RCOR1 TRIM22 ZKSCAN8 KMT2B BCL11A TPT1P4 STX11 UTRN PLAGL1 FJ601666-064 piR-42491-198
GH06J144313 Enhancer 1.3 Ensembl ENCODE dbSUPER 5.6 +31.8 31803 12.6 TCF12 NCOR1 FOS ZIC2 KDM6A TCF7 KLF7 ZBTB25 TGIF2 TEAD1 RF00017-5825 TPT1P4 STX11 UTRN ENSG00000225311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UTRN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UTRN

Top Transcription factor binding sites by QIAGEN in the UTRN gene promoter:
  • AML1a
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • FOXD1
  • Pbx1a
  • POU3F1
  • USF-1
  • USF1

Genomic Locations for UTRN Gene

Genomic Locations for UTRN Gene
chr6:144,285,298-144,853,034
(GRCh38/hg38)
Size:
567,737 bases
Orientation:
Plus strand
chr6:144,606,837-145,174,170
(GRCh37/hg19)
Size:
567,334 bases
Orientation:
Plus strand

Genomic View for UTRN Gene

Genes around UTRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UTRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UTRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UTRN Gene

Proteins for UTRN Gene

  • Protein details for UTRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46939-UTRO_HUMAN
    Recommended name:
    Utrophin
    Protein Accession:
    P46939
    Secondary Accessions:
    • Q5SYY1
    • Q5SZ57
    • Q9UJ40

    Protein attributes for UTRN Gene

    Size:
    3433 amino acids
    Molecular mass:
    394466 Da
    Quaternary structure:
    • Homodimer. Interacts with the syntrophins SNTA1; SNTB1 and SNTB2. Interacts with SYNM. Interacts (via its WWW and ZZ domains) with DAG1 (via the PPXY motif of betaDAG1); the interaction is inhibited by the tyrosine phosphorylation of the PPXY motif of DAG1.
    Miscellaneous:
    • [Isoform 2]: Produced by alternative promoter usage.
    • [Isoform Up71]: =Produced by alternative promoter usage.
    • [Isoform Up140]: =Produced by alternative promoter usage.

    Three dimensional structures from OCA and Proteopedia for UTRN Gene

    Alternative splice isoforms for UTRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UTRN Gene

Post-translational modifications for UTRN Gene

  • Ubiquitination at Lys1334
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UTRN Gene

Domains & Families for UTRN Gene

Gene Families for UTRN Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UTRN Gene

Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat
  • WW domain signature
  • Zn-finger, ZZ type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UTRN Gene

GenScript: Design optimal peptide antigens:
  • Utrophin (Q5JT44_HUMAN)
  • Utrophin (Q5JT45_HUMAN)
  • Utrophin (Q5JT46_HUMAN)
  • Utrophin (Q5JT49_HUMAN)
  • Utrophin (Q5SYY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46939

UniProtKB/Swiss-Prot:

UTRO_HUMAN :
  • Actin binding affinity is primarily determined by CH domain 1.
Domain:
  • Actin binding affinity is primarily determined by CH domain 1.
genes like me logo Genes that share domains with UTRN: view

Function for UTRN Gene

Molecular function for UTRN Gene

UniProtKB/Swiss-Prot Function:
May play a role in anchoring the cytoskeleton to the plasma membrane.
GENATLAS Biochemistry:
utrophin,dystrophin related protein,expressed in sensory ganglia and brain,at the synapse and myotendinous junction,associating with the dystroglycan complex and involved in association with rapsyn,in the clustering of acetylcholine receptors

Phenotypes From GWAS Catalog for UTRN Gene

Gene Ontology (GO) - Molecular Function for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA,IEA 16803572
GO:0005178 integrin binding IPI 16803572
GO:0005515 protein binding IEA,IPI 10767429
GO:0008270 zinc ion binding IEA --
GO:0017166 vinculin binding IPI 16803572
genes like me logo Genes that share ontologies with UTRN: view
genes like me logo Genes that share phenotypes with UTRN: view

Animal Models for UTRN Gene

MGI Knock Outs for UTRN:

Clone Products

  • Addgene plasmids for UTRN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UTRN Gene

Localization for UTRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for UTRN Gene

Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Neuromuscular junction.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UTRN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 19786618
GO:0005856 cytoskeleton TAS 8977119
GO:0005886 plasma membrane TAS,IDA --
GO:0016010 dystrophin-associated glycoprotein complex IEA --
genes like me logo Genes that share ontologies with UTRN: view

Pathways & Interactions for UTRN Gene

PathCards logo

SuperPathways for UTRN Gene

genes like me logo Genes that share pathways with UTRN: view

Pathways by source for UTRN Gene

1 BioSystems pathway for UTRN Gene
1 Qiagen pathway for UTRN Gene
  • Agrin Interactions at Neuromuscular Junction

SIGNOR curated interactions for UTRN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IMP 19786618
GO:0006936 muscle contraction TAS 9288751
GO:0007517 muscle organ development TAS 9288751
GO:0007528 neuromuscular junction development IEA --
GO:0014894 response to denervation involved in regulation of muscle adaptation IEA --
genes like me logo Genes that share ontologies with UTRN: view

Drugs & Compounds for UTRN Gene

(9) Drugs for UTRN Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2822
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 0

(3) Additional Compounds for UTRN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UTRN: view

Transcripts for UTRN Gene

mRNA/cDNA for UTRN Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for UTRN

Alternative Splicing Database (ASD) splice patterns (SP) for UTRN Gene

No ASD Table

Relevant External Links for UTRN Gene

GeneLoc Exon Structure for
UTRN

Expression for UTRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UTRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UTRN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2) and Uterus (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UTRN Gene



Protein tissue co-expression partners for UTRN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UTRN

SOURCE GeneReport for Unigene cluster for UTRN Gene:

Hs.133135

mRNA Expression by UniProt/SwissProt for UTRN Gene:

P46939-UTRO_HUMAN
Tissue specificity: Isoform 1 has high expression in muscle. Isoforms Up70 and Up140 were found in all the adult and fetal tissues tested and relatively abundant in lung and kidney.

Evidence on tissue expression from TISSUES for UTRN Gene

  • Liver(4.9)
  • Heart(4.4)
  • Muscle(3.6)
  • Pancreas(3.6)
  • Nervous system(3.1)
  • Blood(2.9)
  • Intestine(2.6)
  • Lung(2.6)
  • Kidney(2.2)
  • Spleen(2.2)
  • Adrenal gland(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with UTRN: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UTRN Gene

Orthologs for UTRN Gene

This gene was present in the common ancestor of animals.

Orthologs for UTRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UTRN 31 30
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UTRN 31 30
  • 90.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UTRN 31 30
  • 89.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Utrn 17 31 30
  • 84.62 (n)
rat
(Rattus norvegicus)
Mammalia Utrn 30
  • 84.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UTRN 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UTRN 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves UTRN 31 30
  • 75.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UTRN 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia utrn 30
  • 68.13 (n)
zebrafish
(Danio rerio)
Actinopterygii UTRN 31
  • 69 (a)
OneToOne
LOC572406 30
  • 56.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dys 32
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea M116.5 32
  • 37 (a)
Species where no ortholog for UTRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UTRN Gene

ENSEMBL:
Gene Tree for UTRN (if available)
TreeFam:
Gene Tree for UTRN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UTRN: view image

Paralogs for UTRN Gene

(8) SIMAP similar genes for UTRN Gene using alignment to 9 proteins:

  • UTRO_HUMAN
  • H0Y337_HUMAN
  • L8EAK5_HUMAN
  • Q5JT44_HUMAN
  • Q5JT45_HUMAN
  • Q5JT49_HUMAN
  • Q5SYY2_HUMAN
  • Q5T097_HUMAN
  • Q5T098_HUMAN
genes like me logo Genes that share paralogs with UTRN: view

Variants for UTRN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UTRN Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
710329 Likely Benign: not provided 144,459,186(+) A/C MISSENSE_VARIANT
712639 Benign: not provided 144,751,850(+) G/A SYNONYMOUS_VARIANT
713222 Benign: not provided 144,513,923(+) G/A SYNONYMOUS_VARIANT
713896 Likely Benign: not provided 144,678,543(+) A/G SYNONYMOUS_VARIANT
715252 Benign: not provided 144,793,873(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for UTRN Gene

Structural Variations from Database of Genomic Variants (DGV) for UTRN Gene

Variant ID Type Subtype PubMed ID
dgv1160e199 CNV deletion 23128226
esv2422260 CNV deletion 17116639
esv2659683 CNV deletion 23128226
esv2665497 CNV deletion 23128226
esv2674664 CNV deletion 23128226
esv2675592 CNV deletion 23128226
esv2676054 CNV deletion 23128226
esv2732825 CNV deletion 23290073
esv2732826 CNV deletion 23290073
esv2732827 CNV deletion 23290073
esv2763600 CNV loss 21179565
esv3540588 CNV deletion 23714750
esv3611106 CNV loss 21293372
esv3611107 CNV loss 21293372
esv3611108 CNV loss 21293372
esv3611109 CNV loss 21293372
esv3611112 CNV loss 21293372
esv3611113 CNV loss 21293372
esv3611114 CNV gain 21293372
esv3611118 CNV loss 21293372
esv3611119 CNV loss 21293372
esv3611120 CNV loss 21293372
esv3890960 CNV loss 25118596
esv7877 CNV loss 19470904
nsv1021098 CNV gain 25217958
nsv1023014 CNV loss 25217958
nsv1032838 CNV loss 25217958
nsv1074966 CNV deletion 25765185
nsv476476 CNV novel sequence insertion 20440878
nsv510057 OTHER sequence alteration 20534489
nsv516523 CNV loss 19592680
nsv527525 CNV loss 19592680
nsv5518 CNV insertion 18451855
nsv604822 CNV loss 21841781
nsv830831 CNV gain 17160897
nsv830832 CNV gain 17160897
nsv830833 CNV loss 17160897
nsv958344 CNV deletion 24416366

Variation tolerance for UTRN Gene

Residual Variation Intolerance Score: 3.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.14; 84.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UTRN Gene

Human Gene Mutation Database (HGMD)
UTRN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UTRN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UTRN Gene

Disorders for UTRN Gene

MalaCards: The human disease database

(19) MalaCards diseases for UTRN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, becker type
  • bmd
neuromuscular disease
  • neuromuscular diseases
muscular dystrophy
  • muscular dystrophies
congenital myasthenic syndrome
  • congenital myasthenic syndromes
dystrophinopathies
  • dystrophinopathy
- elite association - COSMIC cancer census association via MalaCards
Search UTRN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UTRN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UTRN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UTRN Gene

Publications for UTRN Gene

  1. Adhesion-dependent tyrosine phosphorylation of (beta)-dystroglycan regulates its interaction with utrophin. (PMID: 10769203) James M … Winder SJ (Journal of cell science 2000) 3 4 23 54
  2. Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. (PMID: 10647184) Keep NH … Kendrick-Jones J (Structure (London, England : 1993) 1999) 3 4 23 54
  3. Up71 and up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin. (PMID: 10369873) Wilson J … Edwards YH (Human molecular genetics 1999) 3 4 23 54
  4. Primary structure of dystrophin-related protein. (PMID: 1461283) Tinsley JM … Love DR (Nature 1992) 3 4 23 54
  5. Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines. (PMID: 1426262) Nguyen TM … Morris GE (FEBS letters 1992) 2 3 23 54

Products for UTRN Gene

  • Signalway ELISA kits for UTRN
  • Signalway Proteins for UTRN

Sources for UTRN Gene