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

UTRN Gene

protein-coding   GIFtS: 55
GCID: GC06P144654

utrophin

(Previous name: utrophin (homologous to dystrophin) )
(Previous symbol: DMDL)
 Explore 33 diseases affiliated with
UTRN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UTRN    

Aliases
for UTRN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Utrophin1     Dystrophin-Related Protein 12 3
DMDL1 2 3 5     DRP-12 3
DRP11 2 3 5     Utrophin (Homologous To Dystrophin)1
DRP1 2     

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


Summaries
for UTRN gene

(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:
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)

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)


Genomic Views
for UTRN 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
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 plasmid: UTRN 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

Proteins
for UTRN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46939

    • UTRN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Novus Biologicals UTRN Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for UTRN

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA19786618
    GO:0005856cytoskeleton IEA--


    UTRN for ontologies           About GeneDecksing



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    Uscn Antibodies for UTRN
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    Uscn ELISAs and CLIAs for UTRN

    Protein Domains /
    Families
    for UTRN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UTRN for domains           About GeneDecksing

    5/10 InterPro domains/families (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 families:
    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


    Function
    for UTRN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UTRN
    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 plasmid: UTRN 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UTRN (see all 4)
    OriGene shRNA RFP: UTRN
    OriGene siRNA: UTRN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UTRN

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UTRN (see all 2)
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    GenScript: all cDNA clones in your preferred vector: UTRN (NM_007124)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-outs for UTRN: Utrntm1Jrs Utrntm1Ked
         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


    Pathways & Interactions
    for UTRN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Agrin Interactions at Neuromuscular Junction
    		Agrin Interactions at Neuromuscular Junction1.00

    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



    Drugs & Compounds
    for UTRN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    10 Novoseek 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 

    Transcripts
    for UTRN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UTRN
    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 plasmid: UTRN 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UTRN (see all 4)
    OriGene shRNA RFP: UTRN
    OriGene siRNA: UTRN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UTRN
    Clone
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    GenScript: all cDNA clones in your preferred vector: UTRN (NM_007124)
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    Primer
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    Additional cDNA 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 AV761929 CD691005 CD707628 
    CD694536 CD691266 BE719085 CD694201 

    GeneLoc Exon Structure


    Expression
    for UTRN gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTAATTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    UTRN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    BrainMedulla OblongataBrain
    LimbAutopodLimb
    SomiteLumbar Vertebral BodySomite
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UTRN

    Orthologs
    for UTRN gene

    (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 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves UTRN1 utrophin 75.58(n)
    77.79(a)    		   421610  XM_419648.3  XP_419648.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 86(a)
    		 1 ↔ 1
    		 1(206464707-206601830)
    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)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea M116.53   -- 37(a)   IV(8414779-8421194)   --


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

    Paralogs
    for UTRN gene

    (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



    Genomic Variants
    for UTRN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/9541 NCBI SNPs in UTRN are shown (see all 9541)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs132002661,2
    		C--142656591(+) ACCGGG/TTTTTT 1 -- int1 trp31Minor allele frequency- T:0.50NA 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--------
    rs1876925751,2
    		--144611302(+) CTCCTA/GCAACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UTRN (144606837 - 144856837 bp, first 250kb of UTRN)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for UTRN
         4 CNVs: 94073 51815 81620 5395
         1 Indel: 62585
    Human Gene Mutation Database (HGMD): UTRN

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    Disorders / Diseases
    for UTRN gene

    (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
    UTRN for disorders           About GeneDecksing

    OMIM gene information: 128240    OMIM disorders: --

    20/33 diseases for UTRN (see all 33):    About MalaCards
    muscular dystrophy    myasthenia gravis    amyotrophic lateral sclerosis    becker muscular dystrophy
    myasthenic syndrome    duchenne muscular dystrophy    lateral sclerosis    congenital myasthenic syndrome
    dilated cardiomyopathy    muscular atrophy    neuromuscular disease    myasthenia
    dystrophinopathies    pancreatic endocrine tumors    polymyositis    dermatomyositis
    myositis    fanconi's anemia    cardiomyopathy    myopathy

    3 diseases from the University of Copenhagen DISEASES database for UTRN:
    Duchenne muscular dystrophy     Becker muscular dystrophy     Muscular atrophy

    10/24 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: UTRN (2 documents)

    Export disorders for UTRN gene to outside databases

    Publications
    for UTRN gene

    (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 278):
    (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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PubMed id 8576247)1, 2 Ahn A.H.... Kunkel L.M. (1996)

    External Searches for UTRN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing UTRN gene

    (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

    Other Databases showing UTRN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UTRN gene

    (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

    Intellectual Property
    for UTRN gene

    (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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