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UTRN Gene

protein-coding   GIFtS: 59
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 annular pancreas, and becker muscular dystrophy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for UTRN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
2 PDB 3D structures from and Proteopedia for UTRN:
1BHD (3D)        1QAG (3D)    
Secondary accessions: Q5SYY1 Q5SZ57 Q9UJ40
Alternative promoter usage: 2 isoforms:  P46939-1   P46939-2   (Produced by alternative promoter usage)

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

Explore proteomics data for UTRN at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1334
  • Modification sites at PhosphoSitePlus

  • See UTRN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    UTRN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for UTRN
    GenScript Custom Purified and Recombinant Proteins Services for UTRN
    Novus Biologicals UTRN Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UTRN

    UTRN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UTRN
    Novus Biologicals UTRN Antibodies
    Abcam antibodies for UTRN
    Cloud-Clone Corp. Antibodies for UTRN
    Search ThermoFisher Antibodies for UTRN
    LSBio Antibodies in human, mouse, rat for UTRN

    UTRN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UTRN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UTRN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UTRN
    Cloud-Clone Corp. CLIAs for UTRN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR015154 EF-hand_dom_typ2
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-dom_pair
     IPR018159 Spectrin/alpha-actinin
     IPR001715 CH-domain

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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/body  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: Let us create your new Knockout/Knockin mouse model for UTRN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

    miRNA
    Products:
        
    miRTarBase miRNAs that target UTRN:
    hsa-let-7b-5p (MIRT052224), hsa-mir-484 (MIRT042097), hsa-mir-1 (MIRT023543), hsa-mir-331-3p (MIRT043263), hsa-mir-455-3p (MIRT037857), hsa-mir-21-5p (MIRT030742), hsa-mir-505-3p (MIRT040990), hsa-mir-206 (MIRT001788)

    Block miRNA regulation of human, mouse, rat UTRN using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UTRN
    Predesigned siRNA for gene silencing in human, mouse, rat UTRN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UTRN

    Clone
    Products:
         
    OriGene clones in human, mouse for UTRN (see all 4)
    OriGene ORF clones in mouse, rat for UTRN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UTRN (NM_007124)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UTRN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat UTRN

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UTRN
    Browse ESI BIO Cell Lines and PureStem Progenitors for UTRN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UTRN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UTRO_HUMAN, P46939: Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic
    side. Cytoplasm, cytoskeleton. Note=Neuromuscular junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    plasma membrane4
    cytosol3
    extracellular2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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 GeneGlobe Pathway Central Maps for UTRN
        Agrin Interactions at Neuromuscular Junction


        Pathway & Disease-focused RT2 Profiler PCR Array including UTRN: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UTRN

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

    Selected Interacting proteins for UTRN (P469392, 3 ENSP000003565154) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    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
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    Gene Ontology (GO): 4 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    UTRN for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Block miRNA regulation of human, mouse, rat UTRN using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UTRN
    Clone
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    OriGene ORF clones in mouse, rat for UTRN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UTRN (NM_007124)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UTRN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat UTRN
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for UTRN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UTRN
      QuantiTect SYBR Green Assays in human, mouse, rat UTRN
      QuantiFast Probe-based Assays in human, mouse, rat UTRN

    Additional mRNA sequence: 

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

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UTRN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Eye (Sensory Organs)
             Retina
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    UTRN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UTRN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.133135

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

        Pathway & Disease-focused RT2 Profiler PCR Array including UTRN: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UTRN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UTRN
    QuantiTect SYBR Green Assays in human, mouse, rat UTRN
    QuantiFast Probe-based Assays in human, mouse, rat UTRN
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UTRN gene from Selected species (see all 14)    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 75.67(n)
    77.87(a)
      421610  XM_419648.4  XP_419648.4 
    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 LOC5724061 utrophin-like 56.96(n)
    51.32(a)
      572406  XM_005161900.1  XP_005161957.1 


    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)
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    Paralogs for UTRN gene
    DTNA2  DYTN2  DTNB2  DMD2  DRP22  
    8 SIMAP similar genes for UTRN using alignment to 9 protein entries:     UTRO_HUMAN (see all proteins):
    dystrophin    DMD    MACF1    DRP2    HSpTB1    ACF7
    SYNE2    DTNA

    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UTRN (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 128240    OMIM disorders: --

    Selected diseases for UTRN (see all 31):    
    About MalaCards
    annular pancreas    becker muscular dystrophy    dystrophinopathies    congenital myasthenic syndrome
    muscular dystrophy    neuromuscular disease    myasthenia gravis    duchenne muscular dystrophy
    polymyositis    dermatomyositis    pancreatic endocrine tumors    dilated cardiomyopathy
    myositis    lateral sclerosis    amyotrophic lateral sclerosis    muscular atrophy
    myopathy    duodenitis    fanconi's anemia    neuropathy

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

    UTRN for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for UTRN gene, integrated from 10 sources (see all 288):
    (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. (Nature 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. (J. Cell Sci. 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. (Structure 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. (FEBS Lett. 1992)
    5. Interactions of intermediate filament protein synemin with dystrophin and utrophin. (PubMed id 16777071)1, 2, 9 Bhosle R.C.... Robson R.M. (Biochem. Biophys. Res. Commun. 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. (J. Mol. Biol. 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. (FEBS Lett. 2000)
    8. Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2, 9 Ahn A.H. and Kunkel L.M. (J. Cell Biol. 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. (Mol. Med. 2010)
    10. MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia. (PubMed id 20347265)1, 4 Xu Y....Liu P. (Schizophr. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 7402 HGNC: 12635 AceView: UTRN Ensembl:ENSG00000152818 euGenes: HUgn7402
    ECgene: UTRN H-InvDB: UTRN

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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