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DMD Gene

protein-coding   GIFtS: 68
GCID: GC0XM031047

Dystrophin

(Previous names: dystrophin (muscular dystrophy, Duchenne and Becker types),...)
(Previous symbol: MRX85)
  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
dystrophin1 2     DXS1642
MRX851 2     DXS2062
Mental Retardation, X-Linked 851 2     DXS2302
BMD2 5     DXS2392
CMD3B2 5     DXS2682
Duchenne And Becker Types1     DXS2692
Dystrophin (Muscular Dystrophy, Duchenne And Becker Types), Includes
DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS2721
     DXS2702
Muscular Dystrophy1     DXS2722
DXS1422     

External Ids:    HGNC: 29281   Entrez Gene: 17562   Ensembl: ENSG000001989477   OMIM: 3003775   UniProtKB: P115323   

Export aliases for DMD gene to outside databases

Previous GC identifers: GC0XM029640 GC0XM029822 GC0XM030339 GC0XM030498 GC0XM030897 GC0XM028877


(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 DMD Gene:
The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a
positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker
(BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in
3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause
premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is
reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene
is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites.
Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a
large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal
protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein
complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. (provided by RefSeq,
Jul 2008)

GeneCards Summary for DMD Gene:
DMD (dystrophin) is a protein-coding gene. Diseases associated with DMD include becker muscular dystrophy, and dmd-associated dilated cardiomyopathy. GO annotations related to this gene include structural constituent of cytoskeleton and calcium ion binding. An important paralog of this gene is DTNA.

UniProtKB/Swiss-Prot: DMD_HUMAN, P11532
Function: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of
the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a
variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing
the sarcolemma. Also implicated in signaling events and synaptic transmission

Gene Wiki entry for DMD (Dystrophin) 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_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMD gene promoter:
         CREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): DMD promoter sequence
   Search Chromatin IP Primers for DMD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMD


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

Entrez Gene cytogenetic band: Xp21.2   Ensembl cytogenetic band:  Xp21.1   HGNC cytogenetic band: Xp21.2

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM031047:  view genomic region     (about GC identifiers)

Start:
31,115,794 bp from pter      End:
33,357,726 bp from pter
Size:
2,241,933 bases      Orientation:
minus 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: DMD_HUMAN, P11532 (See protein sequence)
Recommended Name: Dystrophin  
Size: 3685 amino acids; 426750 Da
Subunit: Interacts with SYNM (By similarity). Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2.
Interacts with KRT19. Component of the dystrophin-associated glycoprotein complex which is composed of three
subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1,
SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Interacts
with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1.
Interacts with CMYA5 (By similarity). Directly interacts with ANK2 and ANK3; these interactions do not interfere
with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity)
Developmental stage: Isoform 5 is expressed in embryonic neural tissue from the sixth week of development. Isoform
9 is detected in all embryonic tissues examined
Miscellaneous: The DMD gene is the largest known gene in humans. It is 2.4 million base-pairs in size, comprises
79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced
4 PDB 3D structures from and Proteopedia for DMD:
1DXX (3D)        1EG3 (3D)        1EG4 (3D)        3UUN (3D)    
Secondary accessions: E9PDN1 Q02295 Q14169 Q14170 Q5JYU0 Q6NSJ9 Q7KZ48 Q8N754 Q9UCW3 Q9UCW4
Alternative splicing: 10 isoforms:  P11532-1   P11532-2   P11532-3   P11532-4   P11532-5   P11532-6   P11532-7   P11532-8   
P11532-9   P11532-10   (No experimental confirmation available. Contains a phosphothreonine at position 340. Contains a phosphoserine at position 348. Contains a phosphoserine at position 344)

Explore the universe of human proteins at neXtProt for DMD: NX_P11532

Explore proteomics data for DMD at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys3563
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (17 alternative transcripts): 
    NP_000100.2  NP_003997.1  NP_004000.1  NP_004001.1  NP_004002.2  NP_004003.1  NP_004004.1  NP_004005.1  
    NP_004006.1  NP_004007.1  NP_004008.1  NP_004009.1  NP_004010.1  NP_004011.2  NP_004012.1  NP_004013.1  
    NP_004014.1  

    ENSEMBL proteins: 
     ENSP00000367997   ENSP00000350765   ENSP00000367948   ENSP00000354923   ENSP00000367974  
     ENSP00000417123   ENSP00000354464   ENSP00000367951   ENSP00000367977   ENSP00000417075  
     ENSP00000417725   ENSP00000399897   ENSP00000388559   ENSP00000288447   ENSP00000395904  
     ENSP00000352894   ENSP00000340057   ENSP00000367979   ENSP00000444119  
    Reactome Protein details: P11532

    DMD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for DMD
    OriGene Protein Over-expression Lysate for DMD
    OriGene MassSpec for DMD
    OriGene Custom Protein Services for DMD
    GenScript Custom Purified and Recombinant Proteins Services for DMD
    Novus Biologicals DMD Protein
    Novus Biologicals DMD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DMD

    DMD Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DMD
    Browse R&D Systems for Antibodies
    OriGene Antibodies for DMD
    OriGene Custom Antibody Services for DMD
    Novus Biologicals DMD Antibodies
    Abcam antibodies for DMD
    Cloud-Clone Corp. Antibodies for DMD
    ThermoFisher Antibody for DMD
    LSBio Antibodies in human, mouse, rat for DMD

    DMD Assay Products:

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


    (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 P11532

    ProtoNet protein and cluster: P11532

    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: DMD_HUMAN, P11532
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 24 spectrin repeats
    Similarity: Contains 1 WW domain
    Similarity: Contains 1 ZZ-type zinc finger


    DMD 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: DMD_HUMAN, P11532
    Function: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of
    the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a
    variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing
    the sarcolemma. Also implicated in signaling events and synaptic transmission

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002162dystroglycan binding IPI7592992
    GO:0003779actin binding TAS12376554
    GO:0005200structural constituent of cytoskeleton TAS3282674
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16000376
         
    DMD for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for DMD:
     Decreased Hepatitis C virus re  Decreased influenza A virus in  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 12 alleles(MGI details for Dmd) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    DMD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DMD: Dmdtm1Mok Dmdtm1.1Khan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DMD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DMD

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target DMD:
    hsa-mir-21-5p (MIRT030888), hsa-mir-31-5p (MIRT005456), hsa-let-7b-5p (MIRT005060), hsa-mir-16-5p (MIRT031761), hsa-mir-155-5p (MIRT020813)

    Block miRNA regulation of human, mouse, rat DMD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DMD (see all 77):
    hsa-miR-374a hsa-miR-578 hsa-miR-30d hsa-miR-877* hsa-miR-30a hsa-miR-29a* hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): DMD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DMD
    Predesigned siRNA for gene silencing in human, mouse, rat DMD

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

    Clone
    Products:
         
    OriGene clones in human, mouse for DMD (see all 87)
    OriGene ORF clones in mouse, rat for DMD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 18): DMD (NM_004010)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMD

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMD


    (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
    DMD_HUMAN, P11532: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm,
    cytoskeleton. Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=In muscle cells,
    sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of
    ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol4
    nucleus4
    mitochondrion3
    endoplasmic reticulum2
    extracellular2
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA10867799

    DMD 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 DMD About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    3Allograft rejection
    Viral myocarditis0.40
    4DREAM Repression and Dynorphin Expression
    nNOS Signaling in Skeletal Muscle0.37
    5Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DMD
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    nNOS Signaling in Skeletal Muscle

    2 BioSystems Pathways for DMD
        Striated Muscle Contraction
    Arrhythmogenic right ventricular cardiomyopathy

    2 Reactome Pathways for DMD
        Non-integrin membrane-ECM interactions
    Striated Muscle Contraction


    4 Kegg Pathways  (Kegg details for DMD):
        Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy
    Viral myocarditis


    DMD for pathways           About GeneDecksing

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

    Interactions:

        GeneGlobe Interaction Network for DMD

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

    Selected Interacting proteins for DMD (P115321, 2, 3 ENSP000003549234) via UniProtKB, MINT, STRING, and/or I2D (see all 181)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNTB1Q138841, 3, ENSP000003789654EBI-295827,EBI-295843 I2D: score=5 STRING: ENSP00000378965
    UTRNP469392, 3, ENSP000003565154MINT-7211267 I2D: score=1 STRING: ENSP00000356515
    DTNAQ9Y4J82, 3, ENSP000003820644MINT-18893 MINT-18892 MINT-15724 I2D: score=5 STRING: ENSP00000382064
    DTNBO609412, 3, ENSP000003840844MINT-15832 MINT-16058 MINT-15880 I2D: score=5 STRING: ENSP00000384084
    KRT19P087271, 3, ENSP000003551244EBI-295827,EBI-742756 I2D: score=2 STRING: ENSP00000355124
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001954positive regulation of cell-matrix adhesion ----
    GO:0002027regulation of heart rate IMP19027585
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007517muscle organ development NAS1824797
    GO:0007519skeletal muscle tissue development ----

    DMD 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 DMD

    Selected Novoseek inferred chemical compound relationships for DMD gene (see all 53)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dapc 79.7 9 10814717 (2), 10679963 (1), 9412493 (1), 16611689 (1) (see all 7)
    creatinine 61.5 29 16887896 (2), 1979724 (1), 11303236 (1), 17259292 (1) (see all 27)
    oligonucleotide 36.2 12 9618164 (1), 19937601 (1), 1339456 (1), 16629057 (1) (see all 11)
    alpha-bungarotoxin 29.5 9 1436686 (1), 8264949 (1), 2119867 (1), 8059338 (1)
    hind iii 28.1 2 1559698 (1), 8760470 (1)
    acetylcholine 25.2 12 2040646 (2), 8811120 (1), 11150969 (1), 9060469 (1) (see all 10)
    phosphorothioate 15.7 1 14527677 (1)
    glycogen 14.3 3 1915449 (1), 10417791 (1), 16640643 (1)
    gentamicin 14.1 18 20517938 (3), 16122626 (3), 19944091 (2), 12966700 (2) (see all 11)
    calcium 8.83 107 15212940 (7), 19692655 (5), 16446505 (4), 16897576 (4) (see all 39)



    DMD 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 DMD gene (18 alternative transcripts): 
    NM_000109.3  NM_004006.2  NM_004009.3  NM_004010.3  NM_004011.3  NM_004012.3  NM_004013.2  NM_004014.2  
    NM_004015.2  NM_004016.2  NM_004017.2  NM_004018.2  NM_004019.2  NM_004020.3  NM_004021.2  NM_004022.2  
    NM_004023.2  NM_004007.2  

    Unigene Cluster for DMD:

    Dystrophin
    Hs.495912  [show with all ESTs]
    Unigene Representative Sequence: NM_004010
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000481143 ENST00000378723(uc004dcm.1 uc004dcn.1 uc004dco.1 uc004dcp.1 uc011mkb.1)
    ENST00000358062 ENST00000378677(uc010ngn.1 uc022buq.1 uc004dcw.2 uc004dcx.2 uc004dcz.2 uc004dcy.1 uc004ddb.1)
    ENST00000357033(uc004dda.1 uc010ngo.1 uc010ngr.1) ENST00000378702
    ENST00000474231 ENST00000361471 ENST00000378680(uc010ngm.3) ENST00000378705
    ENST00000475732 ENST00000469142 ENST00000445312 ENST00000471779 ENST00000488902
    ENST00000493412 ENST00000420596 ENST00000448370
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DMD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DMD (see all 77):
    hsa-miR-374a hsa-miR-578 hsa-miR-30d hsa-miR-877* hsa-miR-30a hsa-miR-29a* hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): DMD 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DMD
    Predesigned siRNA for gene silencing in human, mouse, rat DMD
    Clone
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    OriGene clones in human, mouse for DMD (see all 87)
    OriGene ORF clones in mouse, rat for DMD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 18): DMD (NM_004010)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMD
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DMD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DMD
      QuantiTect SYBR Green Assays in human, mouse, rat DMD
      QuantiFast Probe-based Assays in human, mouse, rat DMD

    Additional mRNA sequence: 

    AB208836.1 AK129855.1 AK299936.1 AK309142.1 BC009242.2 BC010932.1 BC028720.1 BC036103.1 
    BC070078.1 BC094758.1 BC127103.1 BC150141.1 M18533.1 M63072.1 M63073.1 M63074.1 
    M63075.1 M92650.1 S38776.1 S42206.1 S60971.1 S60972.1 S60973.1 S62617.1 
    S64152.1 S71486.1 S81419.1 X06178.1 X06179.1 X14298.1 X15148.1 X15149.1 

    Selected DOTS entries (see all 29):

    DT.87015574  DT.448918  DT.100809245  DT.100683374  DT.100667480  DT.100667481  DT.40124771  DT.92433086 
    DT.92433084  DT.100809244  DT.75125702  DT.100667484  DT.100667485  DT.121283324  DT.92433092  DT.100644813 
    DT.100667486  DT.100864799  DT.92433089  DT.97815067  DT.101972988  DT.101976157  DT.121283325  DT.216926 

    3 AceView cDNA sequences:

    M63072 BV206490 AW948794 

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


    DMD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Peripheral Nervous System (Nervous System)
             Immature Schwann Cells Peripheral Nerve Domain
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    DMD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495912

    UniProtKB/Swiss-Prot: DMD_HUMAN, P11532
    Tissue specificity: Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma.
    Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and
    hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in
    heart and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including DMD: 
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    (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 animals.

    Orthologs for DMD gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmd1 , 5 dystrophin, muscular dystrophy1, 5 90.39(n)1
    91.32(a)1
      X (38.38 cM)5
    134051  NM_007868.51  NP_031894.11 
     829488705 
    chicken
    (Gallus gallus)
    Aves DMD1 dystrophin 78.4(n)
    78.95(a)
      396236  NM_205299.1  NP_990630.1 
    lizard
    (Anolis carolinensis)
    Reptilia DMD6
    dystrophin
    79(a)
    1 ↔ 1
    3(127543461-128905705)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158792 X.laevis mRNA for dystrophin 82.92(n)    X99700.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dmd2 dystrophin 75.15(n)   83773  AF339031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dys1 , 3 cytoskeletal protein binding3
    Dystrophin1
    45(a)3
    48.23(n)1
    38.99(a)1
      423271  NM_001275801.11  NP_001262730.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMD gene
    DTNA2  DYTN2  UTRN2  DTNB2  DRP22  
    Selected SIMAP similar genes for DMD using alignment to 74 protein entries:     DMD_HUMAN (see all proteins) (see all similar genes):
    dystrophin    CYTSA    UTRN    SMTNL2    HSpTB1    DRP2
    ACTN1    SMTN    TROPH    CLMN    MACF1    PLEC
    SPECC1    DST    SPTBN4    ACF7    SPNB4    SPTB

    DMD for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DMD
    PGOHUM00000240589


    (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 DMD (see all 38618)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18002791,2,,4
    C,FBecker muscular dystrophy (BMD)4 pathogenic131411075(-) CCTGCA/GCTCCG 26 H R mis14Minor allele frequency- G:0.02MN NA 5938
    rs169902641,2,,4
    C,F,HCardiomyopathy, dilated, X-linked 3B (CMD3B)4 --32298404(+) AAAAGA/TTTTAA 14 K N mis1 ese316--NA NS EA MN CSA 7227
    VAR_0235444
    Cardiomyopathy, dilated, X-linked 3B (CMD3B)4--see VAR_0235442 F L mis40--------
    VAR_0051504
    Becker muscular dystrophy (BMD)4--see VAR_0051502 Y N mis40--------
    VAR_0235404
    Cardiomyopathy, dilated, X-linked 3B (CMD3B)4--see VAR_0235402 T A mis40--------
    VAR_0051724
    Becker muscular dystrophy (BMD)4--see VAR_0051722 A V mis40--------
    VAR_0051474
    Duchenne muscular dystrophy (DMD)4--see VAR_0051472 L R mis40--------
    VAR_0363554
    A breast cancer sample4--see VAR_0363552 R H mis40--------
    VAR_0235464
    Duchenne muscular dystrophy (DMD)4--see VAR_0235462 D H mis40--------
    VAR_0363534
    A colorectal cancer sample4--see VAR_0363532 L F mis40--------

    HapMap Linkage Disequilibrium report for DMD (31115794 - 31365794 bp, first 250kb of DMD)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DMD (see all 104):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740067CNV Deletion23290073
    esv2740064CNV Deletion23290073
    esv2057266CNV Deletion18987734
    esv2664435CNV Deletion23128226
    esv2427720CNV Deletion19546169
    esv1060233CNV Deletion17803354
    esv2678792CNV Deletion23128226
    esv2660775CNV Deletion23128226
    esv2630000CNV Deletion19546169
    esv2740069CNV Deletion23290073

    Human Gene Mutation Database (HGMD): DMD
    Locus Specific Mutation Databases (LSDB): DMD

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 300377   
    OMIM disorders: 310200  300376  302045  
    UniProtKB/Swiss-Prot: DMD_HUMAN, P11532
  • Duchenne muscular dystrophy (DMD) [MIM:310200]: Most common form of muscular dystrophy; a sex-linked
    recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling
    gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic
    girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a
    wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a
    lower IQ than their genetic expectations would suggest. There is no treatment. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Becker muscular dystrophy (BMD) [MIM:300376]: A neuromuscular disorder characterized by dystrophin
    deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable
    progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than
    Duchenne muscular dystrophy. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]: A disorder characterized by ventricular
    dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at
    risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DMD (see all 100):    
    About MalaCards
    becker muscular dystrophy    dmd-associated dilated cardiomyopathy    rigid spine syndrome    dmd-related dilated cardiomyopathy
    duchenne muscular dystrophy    symptomatic form of muscular dystrophy of duchenne and becker in female carriers    muscular dystrophy, duchenne and becker types    dystrophinopathies
    muscular dystrophy    distal muscular dystrophy    myoglobinuria recurrent    cytoplasmic body myopathy
    complex glycerol kinase deficiency    anal squamous cell carcinoma    bethlem myopathy    focal myositis
    spinal cord injury    retinitis pigmentosa 3    danon disease    fukuyama congenital muscular dystrophy

    5 diseases from the University of Copenhagen DISEASES database for DMD:
    Myopathy     Neuropathy     Dilated cardiomyopathy     Intellectual disability
    Gas gangrene

    DMD for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for DMD gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy duchenne 98.4 628 19158079 (3), 1996328 (2), 8214349 (2), 12206800 (2) (see all 99)
    muscular dystrophy becker 98 305 8158213 (3), 18059005 (3), 16834926 (3), 1979724 (2) (see all 99)
    muscular dystrophies 96 275 16295426 (5), 7950930 (4), 7937619 (3), 8618688 (3) (see all 99)
    cardiomyopathy, dilated, x-linked 92.8 19 9484605 (1), 11515275 (1), 19937601 (1), 15008424 (1) (see all 16)
    muscular dystrophy limb-girdle 87 15 9215691 (2), 9032047 (1), 1686882 (1), 7547371 (1) (see all 13)
    muscle degeneration 84.4 20 7865881 (2), 12868498 (1), 16024571 (1), 20476668 (1) (see all 19)
    myopathy 83.6 73 8214011 (4), 10417791 (3), 8711982 (3), 1714059 (2) (see all 53)
    muscular dystrophy, limb-girdle, autosomal recessive 83.3 1 8968750 (1)
    limb girdle 80.3 10 8195819 (1), 9447608 (1), 17558114 (1), 1944822 (1) (see all 10)
    neuromuscular diseases 75.6 33 8338694 (3), 1686882 (2), 8981315 (1), 12689516 (1) (see all 23)

    GeneTests: DMD
    GeneReviews: DMD
    Genetic Association Database (GAD): DMD
    Human Genome Epidemiology (HuGE) Navigator: DMD (32 documents)

    Export disorders for DMD 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 DMD gene, integrated from 10 sources (see all 1202):
    (articles sorted by number of sources associating them with DMD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. (PubMed id 12359139)1, 2, 4, 9 Feng J.... Sommer S.S. (Mol. Genet. Metab. 2002)
    2. Novel small mutations along the DMD/BMD gene associated with different phenotypes. (PubMed id 7849724)1, 2, 4 Nigro V.... Politano L. (Hum. Mol. Genet. 1994)
    3. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. (PubMed id 3282674)1, 2, 3 Koenig M.... Kunkel L.M. (Cell 1988)
    4. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. (PubMed id 3607877)1, 2, 3 Koenig M....Kunkel L.M. (Cell 1987)
    5. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. (PubMed id 20098710)1, 4, 9 Taylor P.J....Buckley M.F. (PLoS ONE 2010)
    6. 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)
    7. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. (PubMed id 10801490)1, 2, 9 Norwood F.L.M.... Kendrick-Jones J. (Structure 2000)
    8. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. (PubMed id 7592992)1, 2, 9 Jung D.... Campbell K.P. (J. Biol. Chem. 1995)
    9. Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. (PubMed id 10932245)1, 2, 9 Huang X.... Eck M.J. (Nat. Struct. Biol. 2000)
    10. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. (PubMed id 8817332)1, 2, 9 Lenk U....Hubner C. (Hum. Mol. Genet. 1996)

    (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)
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    Entrez Gene: 1756 HGNC: 2928 AceView: DMD.1 Ensembl:ENSG00000198947 euGenes: HUgn1756
    ECgene: DMD Kegg: 1756 H-InvDB: DMD

    (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 DMD Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for DMD Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    DMDhttp://www.dmd.nl/database.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DMD[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=DMD
    Wikipedia http://en.wikipedia.org/wiki/Dystrophin

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

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



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