Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS

Search by expression pattern Search by expression pattern



DMD Gene

protein-coding   GIFtS: 66

GC0XM028877
dystrophin
(Previous names: dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
dystrophin1 2     DXS2061 2
BMD1 2 5     DXS1641 2
DXS2691 2     CMD3B2 5
DXS2721 2     dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142,
DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS2721
DXS2301 2     OTTHUMP000002155922
DXS2681 2     OTTHUMP000002155912
DXS2701 2     OTTHUMP000000231212
DXS2391 2     OTTHUMP000002155902
DXS1421 2     

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

Export aliases for DMD gene to outside databases

Previous GC identifers: GC0XM029640 GC0XM029822 GC0XM030339 GC0XM030498 GC0XM030897 GC0XM031047


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

Entrez Gene summary for DMD:
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)

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)

(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 DMD gene promoter:
         CREB   deltaCREB   SRY   GATA-1   POU3F2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   E4BP4   RORalpha2   Lmo2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for DMD

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

GeneLoc location for GC0XM028877:  view genomic region     (about GC identifiers)

Start:
28,877,768 bp from pter
End:
31,095,562 bp from pter
Size:
2,217,795 bases
Orientation:
minus strand

1 alternative location:
ChrX- 31,132,808-33,357,558     
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  

(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: 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
Subcellular location: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton
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
PDB structures from and Proteopedia :
1DXX (3D)    1EG3 (3D)    1EG4 (3D)    
Secondary accessions: Q02295 Q14169 Q14170 Q5JYU0 Q7KZ48 Q9UCW3 Q9UCW4
Alternative splicing: 5 isoforms:  P11532-1   P11532-2   P11532-3   P11532-4   P11532-5   (Additional isoforms seem to exist)

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (18 alternative transcripts): 
    NP_000100.2  NP_003997.1  NP_003998.1  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: 
    ENSP00000417123 ENSP00000354923 ENSP00000417725 ENSP00000388559 ENSP00000288447 ENSP00000367948 
    ENSP00000367958 ENSP00000367974 ENSP00000350765 ENSP00000367951 ENSP00000367979 ENSP00000395904 
    ENSP00000367997 ENSP00000399897 ENSP00000354464 ENSP00000367977 ENSP00000420046 ENSP00000417075 
    ENSP00000367955 ENSP00000340057 ENSP00000352894 ENSP00000367953 


    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
    OriGene Protein Over-expression Lysate: DMD
    GenScript Custom Purified and Recombinant Proteins Services for DMD 
    Novus Biologicals Protein for DMD
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/16 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 16):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005626 insoluble fraction IEA--
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005792 microsome IEA--
    GO:0005829 cytosol TAS--
    About this table

    DMD for ontologies           About GeneDecksing



    Antibodies for DMD: 
    Millipore Mono- and Polyclonal Antibodies for the study of DMD
    Sigma-Aldrich Antibody Arrays and Antibodies for DMD
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for DMD 
    Novus Biologicals Antibodies for DMD
    Browse antibodies at Epitomics

    Assays for DMD: 
    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 DMD 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DMD 


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

    DMD for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR015154 EF-hand_dom_typ2
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR016344 Dystrophin/utrophin
     IPR001589 Actinin_actin-bd_CS

    Graphical View of Domain Structure for InterPro Entry P11532

    ProtoNet protein and cluster: P11532

    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: DMD_HUMAN, P11532
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 22 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: 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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for DMD
    Sigma-Aldrich shRNA Panels and shRNA for DMD
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 19): DMD
    OriGene shRNA RFP (see all 19): DMD
    OriGene basic RS shRNA (see all 19): DMD
    OriGene siRNA (see all 18): DMD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DMD 
    miRNA:Sigma-Aldrich microRNA Mimics for DMD
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DMD 
    8/39 SABiosciences Assays for microRNAs that regulate DMD (see all 39):
    hsa-miR-142-5p hsa-let-7d hsa-miR-139-5p hsa-miR-578 hsa-miR-374a hsa-miR-570 hsa-let-7g hsa-miR-124

    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 (see all 18): DMD
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 18): DMD
    OriGene untagged cDNA clones in CMV expression vector (see all 18): DMD
    OriGene 3'-UTR clone (see all 18): DMD 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for DMD 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for DMD 

    5/10 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 10):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002162 dystroglycan binding IPI7592992
    GO:0003779 actin binding TAS12376554
    GO:0005200 structural constituent of cytoskeleton TAS3282674
    GO:0005509 calcium ion binding ----
    GO:0005515 protein binding IPI19109891
    About this table

    DMD for ontologies           About GeneDecksing

    Animal Models: 15/24 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Dmd) (see all 24):

    behavior/neurologicalcardiovascular systemcellulardigestive/alimentaryendocrine/exocrine gland
    growth/sizehearing/vestibular/earhematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallife span-post-weaning/aginglimbs/digits/tailliver/biliary systemmuscle

    DMD 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


    DMD for pathways           About GeneDecksing

    4 Kegg Pathways  (Kegg details for DMD):
        hsa05410 Hypertrophic cardiomyopathy (HCM)
    hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    hsa05414 Dilated cardiomyopathy
    hsa05416 Viral myocarditis

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

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DMD

    5/87 Interacting proteins for DMD (P115321, 2 ENSP000003549233) via UniProtKB, MINT, and/or STRING (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DTNAQ9Y4J82, ENSP000002691903MINT-18893 MINT-18892 MINT-15724 STRING: ENSP00000269190
    DTNBO609412, ENSP000002886423MINT-15832 MINT-16058 MINT-15880 STRING: ENSP00000288642
    SNTB2Q134251, ENSP000003381913EBI-295827,EBI-80411 STRING: ENSP00000338191
    UTRNP469392, ENSP000003565153MINT-7211267 STRING: ENSP00000356515
    KRT19P087271EBI-295827,EBI-742756
    About this table

    5/9 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007517 muscle organ development IEA--
    GO:0007519 skeletal muscle tissue development IEA--
    GO:0021629 olfactory nerve structural organization IEA--
    GO:0030049 muscle filament sliding TAS--
    GO:0043043 peptide biosynthetic process IDA16000376
    About this table

    DMD 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

    DMD for compounds           About GeneDecksing

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

    Browse Tocris compounds for DMD
    10/53 Novoseek chemical compound relationships for DMD gene (see all 53)
    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)
    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 for DMD
    Sigma-Aldrich shRNA Panels and shRNA for DMD
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 19): DMD
    OriGene shRNA RFP (see all 19): DMD
    OriGene basic RS shRNA (see all 19): DMD
    OriGene siRNA (see all 18): DMD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DMD 
    miRNA: Sigma-Aldrich microRNA Mimics for DMD
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DMD 
    8/39 SABiosciences Assays for microRNAs that regulate DMD (see all 39):
    hsa-miR-142-5p hsa-let-7d hsa-miR-139-5p hsa-miR-578 hsa-miR-374a hsa-miR-570 hsa-let-7g hsa-miR-124
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 18): DMD
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 18): DMD
    OriGene untagged cDNA clones in CMV expression vector (see all 18): DMD
    OriGene 3'-UTR Clone (see all 18): DMD 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for DMD 
    Primers: OriGene genome-wide validated SYBR primer pairs: DMD
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for DMD: PPH13399A

    REFSEQ mRNAs for DMD gene (18 alternative transcripts): 

    NM_000109.3  NM_004006.2  NM_004007.2  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  

    Additional cDNA 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 

    24/29 DOTS entries (see all 29):

    DT.448918  DT.87015574  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.216926  DT.97815067  DT.101972988  DT.101976157  DT.121283325 

    3 AceView cDNA sequences:

    M63072 BV206490 AW948794 

    highest scoring ESTs for DMD:

    BC009242 BC036103 BE299007 BX283465 AA324678 AA334892 AA425649 AA427831 AA460476 AA461118 

    Unigene Cluster for DMD:

    Dystrophin
    Hs.495912  [show with all ESTs]
    Unigene Representative Sequence: NM_004010


    GeneLoc Exon Structure

    18/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000480751 ENST00000474231 ENST00000357033(uc004dda.1 uc010ngo.1 uc010ngr.1)
    ENST00000493412 ENST00000469142 ENST00000448370 ENST00000288447(uc004ddf.2)
    ENST00000378677(uc004dcw.2 uc004dcx.2 uc004dcz.2 uc004dcy.1 uc004ddb.1)
    ENST00000378687(uc010ngp.1 uc010ngq.1) ENST00000378702 ENST00000358062
    ENST00000378680 ENST00000378707(uc004dcq.1 uc004dcr.1 uc004dcs.1 uc004dct.1 uc004dcu.1 uc004dcv.1)
    ENST00000447523 ENST00000475732 ENST00000445312 ENST00000472681 ENST00000378723(uc004dcm.1 uc004dcn.1 uc004dco.1 uc004dcp.1 uc011mkb.1 uc010ngm.2)


    (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

    DMD expression in normal and diseased human tissues

    1  / 2  / 3

    5 probe-sets matching DMD gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40488_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M86904 0.20 1.00 0.72 1
    208086_s_at2, 3 U133-A 1 1.00 1.00 -- -- M92650 0.60 1.00 0.82 1
    203881_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004010 0.60 1.00 0.82 1
    208086_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    203881_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    DMD for expression           About GeneDecksing

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

    CGAP SAGE TAG: TTTTGTCATT

    SOURCE GeneReport for Unigene cluster: Hs.495912

    Expression variation in blood from EXPOLDB for DMD

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: DMD
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for DMD: PPH13399A
        SABiosciences Expression via Pathway-Focused PCR Array including DMD: 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 DMD gene from 5/11 species (see all 11)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    DMD1   -- dystrophin (muscular dystrophy, Duchenne and Becker more 92.85(n)
    95.05(a)
    606758  XM_850502.1  XP_855595.1 
    cow
    (Bos taurus)
    DMD1   -- dystrophin 93.95(n)
    96.1(a)
    540755  XM_612974.3  XP_612974.3 
    mouse
    (Mus musculus)
    Dmd1 , 5 X (38.38 cM)5
    dystrophin, muscular dystrophy1, 5 90.3(n)1
    91.13(a)1
    134051  NM_007868.21  NP_031894.11 
     AF0628295  AF0628305  (see all 25)
    chicken
    (Gallus gallus)
    DMD1   -- dystrophin 78.33(n)
    78.87(a)
    396236  NM_205299.1  NP_990630.1 
    zebrafish
    (Danio rerio)
    dmd2   -- dystrophin 75.15(n) 83773  AF339031.1 
    About this table        Species with no ortholog for DMD

    ENSEMBL Gene Tree for DMD (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for DMD gene
    DTNA2  DYTN2  UTRN2  DTNB2  DRP22  

    DMD 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

    10/12962 NCBI SNPs in DMD are shown (see all 12962)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7621,2
    C,F,A,H,32716763(-) AAGTGG/TTTTAA 5 -- int16Minor allele frequency- T:0.41EA NS NA WA 299
    rs33611,2
    C,F,O,A,31138589(-) TGTAAA/GACAGT 28 -- ut3128Minor allele frequency- N:0.00MN NS EA NA WA 4607
    rs690431,2
    C,F,A,32537649(+) TGTAAA/TATAAA 5 -- int110Minor allele frequency- T:0.33NS EA NA 715
    rs1155711,2
    C,F,O,H,32563488(-) CTTTCG/TAGCAA 5 -- int120Minor allele frequency- T:0.25NA EA NS MN WA 2504
    rs1193011,2
    C,F,O,H,32543241(+) TTACAC/TAATTC 5 -- int123Minor allele frequency- N:0.00NA EA NS WA 1502
    rs1706041,2
    C,F,32532415(+) ATTTCG/AACTAA 5 -- int113Minor allele frequency- A:0.19NA EA NS 744
    rs1706051,2
    C,F,O,A,32534883(+) CAATTC/TACCTT 5 -- int116Minor allele frequency- N:0.00NA EA NS 1160
    rs1706061,2
    C,F,O32544026(+) TCAACG/ATTGGA 5 -- int117Minor allele frequency- A:0.14MN NS EA NA 1380
    rs1706071,2
    C,F,O,A,32564883(+) AGAATG/CAATCA 5 -- int112Minor allele frequency- C:0.47NS EA NA WA 875
    rs1706081,2
    C,F,O,A,H,32481863(+) ATAGAC/TGACTG 5 -- int130Minor allele frequency- T:0.38NA EA MN NS 4249
    About this table

    HapMap Linkage Disequilibrium images for DMD (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 43 variations for DMD
         15/25 CNVs (see all 25): 0242 96574 52983 52982 96565 103234 67956 83428 67959 83438 83435 83427 44409 73952 9340
         15/18 Indels (see all 18): 29311 83431 42536 96571 96566 96567 96572 83432 62969 83433 96568 83434 83430 83437 96573

    QIAGEN SeqTarget long-range PCR primers for resequencing DMD 

    (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

    DMD for disorders           About GeneDecksing

    OMIM: 300377   disorders: 310200  300376  302045  

    UniProtKB/Swiss-Prot: DMD_HUMAN, P11532

  • Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:310200]. DMD is the 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
  • Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:300376]. BMD resembles DMD in hereditary
  • and clinical features but is later in onset and more benign
  • Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]; also known as
  • X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature
    death

    10/92 Novoseek disease relationships for DMD gene (see all 92)

    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)
    About this table

    GeneTests: DMD
    Dystrophinopathies

    Locus Specific Mutation Databases (LSDB): DMD
    Human Gene Mutation Database (HGMD): DMD
    Genetic Association Database (GAD): DMD
    Human Genome Epidemiology (HuGE) Navigator: DMD (25 documents)

    Export disorders and mutations for DMD 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

    10/1118 PubMed articles for DMD gene, integrated from 7 sources (see all 1118):
    (articles sorted by number of sources associating them with DMD)
    1. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. (PubMed id 12359139)1, 2, 4, 7 Feng J.... Sommer S.S. (2002)
    2. Novel small mutations along the DMD/BMD gene associated with different phenotypes. (PubMed id 7849724)1, 2, 4 Nigro V.... Politano L. (1994)
    3. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. (PubMed id 3282674)1, 2, 3 Koenig M.... Kunkel L.M. (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. (1987)
    5. Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2, 7 Ahn A.H. and Kunkel L.M. (1995)
    6. 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, 7 Norwood F.L.M.... Kendrick-Jones J. (2000)
    7. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. (PubMed id 7592992)1, 2, 7 Jung D....Campbell K.P. (1995)
    8. Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. (PubMed id 10932245)1, 2, 7 Huang X.... Eck M.J. (2000)
    9. 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, 7 Lenk U....Hubner C. (1996)
    10. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). (PubMed id 10573008)1, 2, 7 Eraslan S.... Kirdar B. (1999)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1756 HGNC: 2928 AceView: DMD.1 Ensembl:ENSG00000198947 euGenes: HUgn1756
    ECgene: DMD Kegg: 1756 H-InvDB: DMD

    (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
    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/sites/GeneTests/lab/gene/DMD
    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 XenneX, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for DMD Antibodies for DMD
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for DMD microRNA Mimics for DMD
     "Your Favorite Gene" Pathways and Molecular Interaction Networks Browse Nano Scale siRNA at Sigma-Aldrich
     Browse iPSC Reprogramming Factors at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
     Browse FLAG tag genes at Sigma-Aldrich Browse ELISAs at Sigma-Aldrich
     Browse microRNA Target Validation Systems at Sigma-Aldrich Browse CompoZr Knockout ZFN at Sigma-Aldrich
    feedback
      
     Antibodies   Cell Culture Products  
     ELISAs   Flow Cytometry Kits  
     Primer Pairs   Kinase Activity Assays/Reagents  
     ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays  
     Apoptosis Detection Kits/Reagents   Protease Activity Assays/Reagents  
     DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents  
     Cell Selection/Detection Kits/Reagents   ELISA/Assay Development Kits/Reagents  
     Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins  
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Lysates
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     siRNA
     Custom Immunoassay Development
     Fluorogenic Cell Assay Kits
     miRNA Primers for qPCR Assays
     3' UTR Clones for miRNA Target Studies
     miRNA Expression Plasmids

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DMD
     SeqTarget long-range PCR primers for resequencing DMD
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for DMD
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DMD
     GenScript Custom Purified and Recombinant Proteins Services for DMD GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for DMD
     GenScript Custom Assay Services for DMD GenScript Custom Superior Antibodies Services for DMD
     GenScript Custom overexpressing Cell Line Services for DMD CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DMD promoter
     Search Chromatin IP Primers for DMD
     RT2 qPCR Primer Assay for DMD
     GNC Network for DMD
     Assays for microRNAs that regulate DMD
     SABiosciences PCR Arrays including DMD
     Search Tocris compounds for DMD
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Antibodies for DMD
     Proteins for DMD
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     ELISAs and CLIAs for DMD
           

    GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

    View Random Gene

    Category
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    DMD gene at Home site.
    hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4