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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UTRN Gene

protein-coding   GIFtS: 58
GCID: GC06P144654

Utrophin

(Previous name: utrophin (homologous to dystrophin))
(Previous symbol: DMDL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
utrophin1 2     DRP-12 3
DMDL1 2 3 5     Utrophin (Homologous To Dystrophin)1
DRP12 3 5     DRP2
Dystrophin-Related Protein 12 3     

External Ids:    HGNC: 126351   Entrez Gene: 74022   Ensembl: ENSG000001528187   OMIM: 1282405   UniProtKB: P469393   

Export aliases for UTRN gene to outside databases

Previous GC identifers: GC06P144236 GC06P144460 GC06P144593 GC06P142176


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 becker muscular dystrophy, and dystrophinopathies. GO annotations related to this gene include protein kinase binding and calcium ion binding. An important paralog of this gene is DTNA.

UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939
Function: May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity)

Gene Wiki entry for UTRN (Utrophin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UTRN gene promoter:
         USF1   AML1a   Pbx1a   AP-1   POU3F1   ATF-2   FOXD1   AREB6   USF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUTRN promoter sequence
   Search SABiosciences Chromatin IP Primers for UTRN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UTRN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q24   Ensembl cytogenetic band:  6q24.2   HGNC cytogenetic band: 6q24

UTRN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UTRN gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P144654:  view genomic region     (about GC identifiers)

Start:
144,606,837 bp from pter      End:
145,174,170 bp from pter
Size:
567,334 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939 (See protein sequence)
Recommended Name: Utrophin  
Size: 3433 amino acids; 394466 Da
Subunit: 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
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic
side. Cytoplasm, cytoskeleton. Note=Neuromuscular junction
2 PDB 3D structures from and Proteopedia for UTRN:
1BHD (3D)        1QAG (3D)    
Secondary accessions: Q5SZ57

Explore the universe of human proteins at neXtProt for UTRN: NX_P46939

Explore proteomics data for UTRN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P46939

  • UTRN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UTRN Protein Expression
    REFSEQ proteins: NP_009055.2  
    ENSEMBL proteins: 
     ENSP00000390879   ENSP00000356515   ENSP00000396276   ENSP00000356496   ENSP00000356495  
     ENSP00000356494   ENSP00000398923   ENSP00000404205   ENSP00000387927  

    Human Recombinant Protein Products for UTRN: 
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    Novus Biologicals UTRN Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UTRN 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA19786618
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IDA--

    UTRN for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR015154 EF-hand_dom_typ2
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR011992 EF-hand-like_dom
     IPR016344 Dystrophin/utrophin

    Graphical View of Domain Structure for InterPro Entry P46939

    ProtoNet protein and cluster: P46939

    5 Blocks protein domains:
    IPB000433 Zn-finger
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat
    IPB002349 WW domain signature


    UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 20 spectrin repeats
    Similarity: Contains 1 WW domain
    Similarity: Contains 1 ZZ-type zinc finger


    UTRN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UTRO_HUMAN, P46939
    Function: May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity)

         Genatlas biochemistry entry for UTRN:
    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

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA16803572
    GO:0005178integrin binding IPI16803572
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10767429
    GO:0008270zinc ion binding IEA--
         
    UTRN for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Utrn):
     behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  nervous system  renal/urinary system 
     reproductive system  respiratory system  skeleton 

    UTRN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for UTRN: Utrntm1Jrs Utrntm1Ked

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UTRN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UTRN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UTRN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UTRN 

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    SwitchGear 3'UTR luciferase reporter plasmidUTRN 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UTRN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Agrin Interactions at Neuromuscular Junction
    Agrin Interactions at Neuromuscular Junction

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for UTRN
        Agrin Interactions at Neuromuscular Junction


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UTRN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for UTRN (P469392, 3 ENSP000003565154) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DTNBO609412, 3, ENSP000003840844MINT-14734 I2D: score=2 STRING: ENSP00000384084
    PPP2CBP627142, 3, ENSP000002211384MINT-8291909 I2D: score=1 STRING: ENSP00000221138
    PTPN12Q052092, 3MINT-61775 I2D: score=3 
    DAG1Q141182, 3, ENSP000003124354MINT-18977 MINT-18976 I2D: score=2 STRING: ENSP00000312435
    DTNAQ9Y4J82, 3, ENSP000003820644MINT-15467 I2D: score=3 STRING: ENSP00000382064
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001954positive regulation of cell-matrix adhesion IMP19786618
    GO:0006936muscle contraction TAS9288751
    GO:0007517muscle organ development TAS9288751
    GO:2000649regulation of sodium ion transmembrane transporter activity ISS--

    UTRN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UTRN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UTRN (UTRO)

    10 Novoseek inferred chemical compound relationships for UTRN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dapc 82.2 3 10814717 (2), 16611689 (1)
    acetylcholine 50.9 20 9077444 (2), 8919248 (1), 8674136 (1), 17921863 (1) (see all 17)
    cardiotoxin 43.9 1 10197815 (1)
    phosphotyrosine 2.22 2 9060469 (1), 9117347 (1)
    nitric oxide 0 3 17127434 (1), 11747092 (1), 15034255 (1)
    calcium 0 2 7805877 (2)
    zinc 0 4 10871758 (2), 19965907 (1), 17009962 (1)
    tyrosine 0 11 10769203 (6), 9060469 (1), 8640231 (1)
    arginine 0 3 15561099 (1), 11747092 (1), 20505827 (1)
    creatinine 0 2 7881285 (1), 11238465 (1)

    Search CenterWatch for drugs/clinical trials and news about UTRN / UTRO

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UTRN gene: 
    NM_007124.2  

    Unigene Cluster for UTRN:

    Utrophin
    Hs.133135  [show with all ESTs]
    Unigene Representative Sequence: NM_007124
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433557 ENST00000367545(uc010khq.1 uc003qkt.3) ENST00000421035
    ENST00000367526 ENST00000367525 ENST00000480333 ENST00000367524 ENST00000432686
    ENST00000417142 ENST00000455022 ENST00000465299 ENST00000460618
    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate UTRN (see all 26):
    hsa-miR-142-3p hsa-miR-448 hsa-let-7d hsa-miR-300 hsa-miR-202 hsa-let-7c hsa-let-7g hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidUTRN 3' UTR sequence
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    Additional mRNA sequence: 

    AK023675.1 AK292506.1 X15488.1 X69086.1 

    24/25 DOTS entries (see all 25):

    DT.316975  DT.95289437  DT.95289438  DT.91892868  DT.91707523  DT.92027387  DT.91970601  DT.121357524 
    DT.91642199  DT.91794183  DT.102833264  DT.121357568  DT.97802607  DT.86853120  DT.92449434  DT.92449435 
    DT.121357409  DT.121357518  DT.121357547  DT.91834826  DT.91893668  DT.91903823  DT.92449428  DT.92449432 

    12 AceView cDNA sequences:

    BP359217 BP359624 BX473114 CD653134 CD698150 CD691005 AV761929 CD694536 
    CD707628 CD691266 BE719085 CD694201 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UTRN expression in normal human tissues (normalized intensities)      UTRN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTAATTTT
    UTRN Expression
    About this image


    UTRN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
             sperm   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             pre Conventional Dendritic Cells Peripheral Blood
             nk cells   
     
     Limb (Muscoskeletal System)
             Autopod
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius muscle   

    See UTRN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UTRN

    SOURCE GeneReport for Unigene cluster: Hs.133135

    UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939
    Tissue specificity: Muscle

        SABiosciences Expression via Pathway-Focused PCR Array including UTRN: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UTRN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for UTRN gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Utrn1 , 5 utrophin1, 5 84.62(n)1
    87.61(a)1
      10 (3.77 cM)5
    222881  NM_011682.41  NP_035812.31 
     123821885 
    chicken
    (Gallus gallus)
    Aves UTRN1 utrophin 75.58(n)
    77.79(a)
      421610  XM_419648.3  XP_419648.3 
    lizard
    (Anolis carolinensis)
    Reptilia UTRN6
    utrophin
    73(a)
    1 ↔ 1
    1(206121610-206617227)
    African clawed frog
    (Xenopus laevis)
    Amphibia X99701.12   -- 77.91(n)    X99701.1 
    zebrafish
    (Danio rerio)
    Actinopterygii utrn1 utrophin 56.56(n)
    49.53(a)
      100034367  XM_003201157.1  XP_003201205.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dys3 cytoskeletal protein binding 44(a)     --


    ENSEMBL Gene Tree for UTRN (if available)
    TreeFam Gene Tree for UTRN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UTRN gene
    DTNA2  DYTN2  DTNB2  DMD2  DRP22  
    18/22 SIMAP similar genes for UTRN using alignment to 10 protein entries:     UTRO_HUMAN (see all proteins) (see all similar genes):
    UTRNB    dystrophin    DMD    SPTBN1    ACTN1    DST
    SPTBN2    SPTBN4    DRP2    HSpTB1    MACF1    ACTN2
    ACTN3    PLEC    TROPH    ORF    SYNE1    ACF7

    UTRN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/11364 SNPs in UTRN are shown (see all 11364)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs677513421,2
    C--142453848(+) AAATCAG/-AATAT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs345881621,2
    C--142453849(+) AATCA-/GAATATA 1 -- int11Minor allele frequency- GA:0.00NA 2
    rs1484663041,2
    --144610876(+) GCCTCC/TTGGAT 1 -- us2k10--------
    rs117528021,2
    H--144610899(+) cctgcC/Ttcagc 1 -- us2k10--------
    rs1426092681,2
    --144611053(+) CCAAAC/GTGCTG 1 -- us2k10--------
    rs1871403681,2
    --144611083(+) CCTTGC/TCCGGC 1 -- us2k10--------
    rs1503249731,2
    C--144611088(+) CCCGG-/CCTAGT 1 -- us2k10--------
    rs1465261721,2
    --144611189(+) TACCTA/GTATCA 1 -- us2k10--------
    rs1929947271,2
    --144611202(+) ATAGAC/TAGATA 1 -- us2k10--------
    rs1848106191,2
    --144611253(+) ACTTCA/GTTGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UTRN (144606837 - 144856837 bp, first 250kb of UTRN)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for UTRN (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675592CNV Deletion23128226
    esv2422260CNV Deletion17116639
    dgv1160e199CNV Deletion23128226
    esv2659683CNV Deletion23128226
    esv2732826CNV Deletion23290073
    esv2676054CNV Deletion23128226
    esv2665497CNV Deletion23128226
    esv2674664CNV Deletion23128226
    esv2732827CNV Deletion23290073
    esv2732825CNV Deletion23290073


    Human Gene Mutation Database (HGMD): UTRN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UTRN
    DNA2.0 Custom Variant and Variant Library Synthesis for UTRN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 128240    OMIM disorders: --

    20/28 diseases for UTRN (see all 28):    About MalaCards
    becker muscular dystrophy    dystrophinopathies    congenital myasthenic syndrome    muscular dystrophy
    myasthenia gravis    neuromuscular disease    duchenne muscular dystrophy    polymyositis
    dermatomyositis    pancreatic endocrine tumor    dilated cardiomyopathy    myositis
    muscular atrophy    amyotrophic lateral sclerosis    lateral sclerosis    myopathy
    fanconi's anemia    thrombosis    neuropathy    t-cell leukemia

    2 diseases from the University of Copenhagen DISEASES database for UTRN:
    Myopathy     Neuropathy

    UTRN for disorders           About GeneDecksing

    10/24 Novoseek inferred disease relationships for UTRN gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy duchenne 93.5 57 7881285 (2), 8246010 (2), 16595608 (2), 14659408 (2) (see all 44)
    muscular dystrophy becker 87.9 22 8352853 (2), 8759779 (2), 10483791 (2), 7919618 (2) (see all 15)
    muscular dystrophies 87.9 33 16295426 (5), 7898714 (2), 10707847 (2), 19416869 (2) (see all 21)
    muscle degeneration 78.9 1 18385524 (1)
    myasthenic syndromes congenital 60.5 2 9443457 (1), 11030414 (1)
    myopathy 56.3 5 9829811 (2), 8866746 (1), 10707847 (1)
    muscle necrosis 53.8 1 11015608 (1)
    neuromuscular diseases 49.8 11 8981315 (3), 9829811 (2), 8078878 (1), 8012191 (1) (see all 7)
    myositis 42 5 8440993 (1), 9829811 (1), 1483043 (1), 10707847 (1)
    dermatomyositis 33.5 5 1483043 (1), 7843413 (1), 12619170 (1)

    Genetic Association Database (GAD): UTRN
    Human Genome Epidemiology (HuGE) Navigator: UTRN (2 documents)

    Export disorders for UTRN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UTRN gene, integrated from 9 sources (see all 284):
    (articles sorted by number of sources associating them with UTRN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of dystrophin-related protein. (PubMed id 1461283)1, 2, 9 Tinsley J.M.... Davies K.E. (1992)
    2. Adhesion-dependent tyrosine phosphorylation of (beta)-dystroglycan regulates its interaction with utrophin. (PubMed id 10769203)1, 2, 9 James M....Winder S.J. (2000)
    3. Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. (PubMed id 10647184)1, 2, 9 Keep N.H....Kendrick-Jones J. (1999)
    4. Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines. (PubMed id 1426262)1, 3, 9 Nguyen T.M....Morris G.E. (1992)
    5. Interactions of intermediate filament protein synemin with dystrophin and utrophin. (PubMed id 16777071)1, 2, 9 Bhosle R.C.... Robson R.M. (2006)
    6. The 2.0-A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. (PubMed id 9887274)1, 2, 9 Keep N.H....Kendrick-Jones J. (1999)
    7. Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex. (PubMed id 10767429)1, 2, 9 Tommasi di Vignano A....Dente L. (2000)
    8. Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2, 9 Ahn A.H. and Kunkel L.M. (1995)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. MicroRNAs and target site screening reveals a pre-mic roRNA-30e variant associated with schizophrenia. (PubMed id 20347265)1, 4 Xu Y....Liu P. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7402 HGNC: 12635 AceView: UTRN Ensembl:ENSG00000152818 euGenes: HUgn7402
    ECgene: UTRN H-InvDB: UTRN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UTRN Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Utrophin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UTRN gene:
    Search GeneIP for patents involving UTRN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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