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UTRN Gene

protein-coding   GIFtS: 58

GC06P142176
utrophin
(Previous name: utrophin (homologous to dystrophin) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DMDL)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
utrophin1 2     Dystrophin-related protein 12 3
DRP11 2 3 5     DRP-12 3
DMDL2 3 5     utrophin (homologous to dystrophin)1
DRP1 2     FLJ236782

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

Export aliases for UTRN gene to outside databases

Previous GC identifers: GC06P144236 GC06P144460 GC06P144593 GC06P144654


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UTRN gene promoter:
         AP-1   Sp1   c-Rel   c-Jun   c-Fos   RORalpha2   GR-beta   GR-alpha   C/EBPbeta   SRF   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for UTRN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P142176:  view genomic region     (about GC identifiers)

Start:
142,176,382 bp from pter
End:
142,737,622 bp from pter
Size:
561,241 bases
Orientation:
plus strand

1 alternative location:
Chr6+ 144,606,837-145,174,170     
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
PDB structure from and Proteopedia :
1BHD (3D)    1QAG (3D)    
Secondary accessions: Q5SZ57

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_009055.2  

    ENSEMBL proteins: 
    ENSP00000356495 ENSP00000387927 ENSP00000404205 ENSP00000390879 ENSP00000398923 ENSP00000396276 
    ENSP00000356515 ENSP00000356494 ENSP00000393815 ENSP00000356499 ENSP00000356496 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for UTRN 
    Novus Biologicals Protein for UTRN
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/11 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction TAS1426262
    GO:0005634 nucleus IDA18029348
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm IDA19786618
    GO:0005856 cytoskeleton IEA--
    About this table

    UTRN for ontologies           About GeneDecksing



    Antibodies for UTRN: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for UTRN
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for UTRN 
    Novus Biologicals Antibodies for UTRN
    Browse antibodies at Epitomics

    Assays for UTRN: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UTRN 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for UTRN 


    (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
     IPR011992 EF-hand-like_dom
     IPR018159 Spectrin/alpha-actinin
     IPR001715 CH-domain

    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for UTRN
    Sigma-Aldrich shRNA Panels and shRNA for UTRN
    OriGene 29mer shRNA kits in GFP-retroviral vector: UTRN
    OriGene shRNA RFP: UTRN
    OriGene basic RS shRNA: UTRN
    OriGene siRNA: UTRN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UTRN 
    miRNA:Sigma-Aldrich microRNA Mimics for UTRN
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UTRN 
    8/19 SABiosciences Assays for microRNAs that regulate UTRN (see all 19):
    hsa-miR-142-3p hsa-miR-448 hsa-let-7d hsa-let-7c hsa-let-7g hsa-miR-9 hsa-let-7a hsa-miR-613

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: UTRN
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: UTRN
    OriGene untagged cDNA clones in CMV expression vector: UTRN
    OriGene 3'-UTR clone: UTRN 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for UTRN 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for UTRN 

    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

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IEA--
    GO:0005509 calcium ion binding IEA--
    GO:0005515 protein binding IPI19786618
    GO:0008270 zinc ion binding IEA--
    About this table

    UTRN for ontologies           About GeneDecksing

    Animal Models: 14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Utrn):

    behavior/neurologicalcardiovascular systemgrowth/sizehomeostasis/metabolismlethality-postnatal
    life span-post-weaning/aginglimbs/digits/tailliver/biliary systemmusclenervous system
    renal/urinary systemreproductive systemrespiratory systemskeleton

    UTRN for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    UTRN for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  UTRN
        Agrin Interactions at Neuromuscular Junction

        SABiosciences Pathway-Focused PCR Array including UTRN: PAHS-099A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for UTRN
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UTRN

    5/48 Interacting proteins for UTRN (ENSP000003565153 P469391, 2) via UniProtKB, MINT, and/or STRING (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNTB2Q134251STRING: ENSP00000338191 EBI-295856,EBI-80411
    DAG1Q141182STRING: ENSP00000312435 MINT-18977 MINT-18976
    DMDP115322STRING: ENSP00000354923 MINT-7211267
    DTNAQ9Y4J82STRING: ENSP00000269190 MINT-15467
    SNTB1Q138841EBI-295856,EBI-295843
    About this table

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001954 positive regulation of cell-matrix adhesion IMP19786618
    GO:0006936 muscle contraction TAS9288751
    GO:0007517 muscle organ development TAS9288751
    About this table

    UTRN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    UTRN for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UTRN
    10 Novoseek chemical compound relationships for UTRN gene
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for UTRN
    Sigma-Aldrich shRNA Panels and shRNA for UTRN
    OriGene 29mer shRNA kits in GFP-retroviral vector: UTRN
    OriGene shRNA RFP: UTRN
    OriGene basic RS shRNA: UTRN
    OriGene siRNA: UTRN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UTRN 
    miRNA: Sigma-Aldrich microRNA Mimics for UTRN
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UTRN 
    8/19 SABiosciences Assays for microRNAs that regulate UTRN (see all 19):
    hsa-miR-142-3p hsa-miR-448 hsa-let-7d hsa-let-7c hsa-let-7g hsa-miR-9 hsa-let-7a hsa-miR-613
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: UTRN
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: UTRN
    OriGene untagged cDNA clones in CMV expression vector: UTRN
    OriGene 3'-UTR Clone: UTRN 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for UTRN 
    Primers: OriGene genome-wide validated SYBR primer pairs: UTRN
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for UTRN: PPH15074A

    REFSEQ mRNAs for UTRN gene: 

    NM_007124.2  

    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.102833264 
    DT.121357524  DT.91794183  DT.121357568  DT.91642199  DT.97802607  DT.86853120  DT.92449434  DT.92449435 
    DT.121357409  DT.121357518  DT.121357547  DT.91834826  DT.91893668  DT.91903823  DT.91966923  DT.92449428 

    12 AceView cDNA sequences:

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

    highest scoring ESTs for UTRN:

    AL046946 W84486 AA025239 AA026026 AA046146 AA046321 AA233855 AA358108 AA503827 AA557618 

    Unigene Cluster for UTRN:

    Utrophin
    Hs.133135  [show with all ESTs]
    Unigene Representative Sequence: NM_007124


    GeneLoc Exon Structure

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460618 ENST00000367525 ENST00000465299 ENST00000455022 ENST00000417142
    ENST00000480333 ENST00000433557 ENST00000432686 ENST00000421035 ENST00000367545(uc003qkt.2)
    ENST00000367524 ENST00000455675 ENST00000367529(uc010khq.1) ENST00000367526


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    UTRN expression in normal and diseased human tissues

    1  / 2  / 3

    9 probe-sets matching UTRN gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    45231_at2, 3 U95-B 1 1.00 1.00 0.96 1.14 AL046946 1.00 1.00 1.00 1
    62733_at2, 3 U95-C 1 0.88 1.00 0.95 1.02 W84486 1.00 1.00 1.00 1
    41390_at2, 3 U95-A 1 0.81 1.00 0.94 0.84 X69086 0.80 1.00 0.91 1
    225093_at2, 3 U133-B 1 1.00 1.00 -- -- N66570 0.80 1.00 0.91 1
    213023_at2, 3 U133-A 1 1.00 1.00 -- -- NM_007124 0.60 1.00 0.82 1
    213022_s_at2, 3 U133-A 1 0.82 1.00 -- -- NM_007124 0.60 1.00 0.82 1
    225093_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    213023_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    213022_s_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    UTRN for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    UTRN gene expression
    UTRN gene electronic northern expression
    UTRN gene sage expression
    About these images

    CGAP SAGE TAG: TGTTAATTTT

    SOURCE GeneReport for Unigene cluster: Hs.133135

    Expression variation in blood from EXPOLDB for UTRN

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

    Primers: OriGene genome-wide validated SYBR primer pairs: UTRN
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for UTRN: PPH15074A
        SABiosciences Expression via Pathway-Focused PCR Array including UTRN: PAHS-099A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for UTRN gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    UTRN1   -- utrophin 90.33(n)
    92.04(a)
    442965  NM_001012395.1  NP_001012395.1 
    chimpanzee
    (Pan troglodytes)
    UTRN1   -- utrophin 99.5(n)
    99.39(a)
    463046  XM_001172869.1  XP_001172869.1 
    rat
    (Rattus norvegicus)
    Utrn1   -- utrophin 84.24(n)
    87.13(a)
    25600  NM_013070.1  NP_037202.1 
    mouse
    (Mus musculus)
    Utrn1 , 5 10 (3.77 cM)5
    utrophin1, 5 84.62(n)1
    87.61(a)1
    222881  NM_011682.41  NP_035812.31 
     AA5895695  AI2273555  (see all 25)
    chicken
    (Gallus gallus)
    UTRN1   -- utrophin 74.55(n)
    76.25(a)
    421610  XM_419648.2  XP_419648.2 
    About this table        Species with no ortholog for UTRN

    ENSEMBL Gene Tree for UTRN (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for UTRN gene
    DTNA2  DYTN2  DTNB2  DMD2  DRP22  

    UTRN for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/5509 NCBI SNPs in UTRN are shown (see all 5509)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs17461,2
    C,A,H,144671259(-) AGGAAT/CTCCTG 1 -- int19Minor allele frequency- C:0.46MN NA EA WA 404
    rs101921,2
    C,F,A,145174098(+) AAGAAA/CTAATC 1 -- ut3115Minor allele frequency- N:0.01MN EA NA NS WA 984
    rs170821,2
    --144767859(+) TTTCCC/TCATGG 1 -- int10--------
    rs746711,2
    C,F,A,H,144627616(+) TGGGTA/GGTGGA 1 -- int118Minor allele frequency- G:0.41EA NS NA WA 1412
    rs5898921,2
    C,F,A,144613989(+) AGCTTA/GTTTCT 1 -- int113Minor allele frequency- G:0.44EA NS NA WA 798
    rs5926671,2
    C,F,O,A,H,144613337(+) CATTTT/CTCTTT 1 -- int1 trp313Minor allele frequency- C:0.46NA NS EA WA 766
    rs6083081,2
    C144612192(+) ggcatG/Cagcca 1 -- ng511Minor allele frequency- C:0.50WA 2
    rs6087551,2
    C144612084(-) AAATAC/AAAAAA 1 -- ng511Minor allele frequency- A:0.50WA 2
    rs6227181,2
    C,F,A,H,144624112(+) GCAGGG/TTTTAT 1 -- int115Minor allele frequency- T:0.27NA EA NS WA 1296
    rs6438851,2
    --144612080(+) TTTTTA/TTTTGT 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for UTRN (up to first 250kb)
    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

    QIAGEN SeqTarget long-range PCR primers for resequencing UTRN 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UTRN for disorders           About GeneDecksing

    OMIM: 128240

    10/24 Novoseek disease relationships for UTRN gene (see all 24)

    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)
    About this table

    Human Gene Mutation Database (HGMD): UTRN
    Human Genome Epidemiology (HuGE) Navigator: UTRN (2 documents)

    Export disorders and mutations for UTRN gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/262 PubMed articles for UTRN gene, integrated from 7 sources (see all 262):
    (articles sorted by number of sources associating them with UTRN)
    1. Primary structure of dystrophin-related protein. (PubMed id 1461283)1, 2, 7 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, 7 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, 7 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, 7 Nguyen T.M....Morris G.E. (1992)
    5. Interactions of intermediate filament protein synemin with dystrophin and utrophin. (PubMed id 16777071)1, 2, 7 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, 7 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, 7 Tommasi di Vignano A....Dente L. (2000)
    8. Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2, 7 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    Wikipedia http://en.wikipedia.org/wiki/Utrophin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for UTRN gene:
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