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Aliases for DMD Gene

Aliases for DMD Gene

  • Dystrophin 2 3
  • CMD3B 3 6
  • BMD 3 6
  • Dystrophin (Muscular Dystrophy, Duchenne And Becker Types), Includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 2
  • Mental Retardation, X-Linked 85 2
  • Duchenne And Becker Types 2
  • Muscular Dystrophy 2
  • DXS142 3
  • DXS164 3
  • DXS206 3
  • DXS230 3
  • DXS239 3
  • DXS268 3
  • DXS269 3
  • DXS270 3
  • DXS272 3
  • MRX85 3

External Ids for DMD Gene

Previous HGNC Symbols for DMD Gene

  • MRX85

Previous GeneCards Identifiers for DMD Gene

  • GC0XM029640
  • GC0XM029822
  • GC0XM030339
  • GC0XM030498
  • GC0XM030897
  • GC0XM028877

Summaries for DMD Gene

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 cardiomyopathy, dilated, 3b and duchenne muscular dystrophy. Among its related pathways are Degradation of the extracellular matrix and Non-integrin membrane-ECM interactions. GO annotations related to this gene include calcium ion binding and structural constituent of cytoskeleton. An important paralog of this gene is DRP2.

UniProtKB/Swiss-Prot for DMD Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMD Gene

Genomics for DMD Gene

Regulatory Elements for DMD Gene

Transcription factor binding sites by QIAGEN in the DMD gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DMD Gene

31,097,677 bp from pter
33,339,609 bp from pter
2,241,933 bases
Minus strand

Genomic View for DMD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMD Gene

Proteins for DMD Gene

  • Protein details for DMD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • E9PDN1
    • Q02295
    • Q14169
    • Q14170
    • Q5JYU0
    • Q6NSJ9
    • Q7KZ48
    • Q8N754
    • Q9UCW3
    • Q9UCW4

    Protein attributes for DMD Gene

    3685 amino acids
    Molecular mass:
    426750 Da
    Quaternary structure:
    • 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).
    • 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

    Three dimensional structures from OCA and Proteopedia for DMD Gene

    Alternative splice isoforms for DMD Gene

neXtProt entry for DMD Gene

Proteomics data for DMD Gene at MOPED

Post-translational modifications for DMD Gene

  • Ubiquitination at Lys3563
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DMD Gene

Domains for DMD Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 CH (calponin-homology) domains.
  • Contains 24 spectrin repeats.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 WW domain.
  • Contains 24 spectrin repeats.
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with DMD: view

Function for DMD Gene

Molecular function for DMD Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for DMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002162 dystroglycan binding IPI 7592992
GO:0003779 actin binding TAS 12376554
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 16000376
genes like me logo Genes that share ontologies with DMD: view
genes like me logo Genes that share phenotypes with DMD: view

Animal Models for DMD Gene

MGI Knock Outs for DMD:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMD

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DMD Gene

Localization for DMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMD Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane. 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). {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for DMD Gene COMPARTMENTS Subcellular localization image for DMD gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
nucleus 4
mitochondrion 3
endoplasmic reticulum 2
extracellular 2
vacuole 1

Gene Ontology (GO) - Cellular Components for DMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 22105192
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS 22105192
GO:0009986 cell surface IDA 10867799
genes like me logo Genes that share ontologies with DMD: view

Pathways for DMD Gene

genes like me logo Genes that share pathways with DMD: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Skeletal Muscle: Myogenesis & Myopathy in human,mouse,rat

Gene Ontology (GO) - Biological Process for DMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion --
GO:0002027 regulation of heart rate IMP 19027585
GO:0006355 regulation of transcription, DNA-templated --
GO:0007517 muscle organ development NAS 1824797
GO:0007519 skeletal muscle tissue development --
genes like me logo Genes that share ontologies with DMD: view

Drugs for DMD Gene

(53) Novoseek inferred chemical compound relationships for DMD Gene

Compound -log(P) Hits PubMed IDs
dapc 79.7 8
creatinine 61.5 28
oligonucleotide 36.2 11
alpha-bungarotoxin 29.5 4
hind iii 28.1 2
genes like me logo Genes that share compounds with DMD: view

Transcripts for DMD Gene

Unigene Clusters for DMD Gene

Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMD

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMD Gene

No ASD Table

Relevant External Links for DMD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DMD Gene

mRNA expression in normal human tissues for DMD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMD Gene

This gene is overexpressed in Muscle - Skeletal (6.2).

Protein differential expression in normal tissues for DMD Gene

This gene is overexpressed in Heart (24.7) and Uterus (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DMD Gene

SOURCE GeneReport for Unigene cluster for DMD Gene Hs.495912

mRNA Expression by UniProt/SwissProt for DMD Gene

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.
genes like me logo Genes that share expressions with DMD: view

Expression partners for DMD Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for DMD Gene

This gene was present in the common ancestor of animals.

Orthologs for DMD Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia DMD 35
  • 92.91 (n)
  • 94.89 (a)
DMD 36
  • 95 (a)
(Mus musculus)
Mammalia Dmd 35
  • 90.39 (n)
  • 91.32 (a)
Dmd 16
Dmd 36
  • 91 (a)
(Pan troglodytes)
Mammalia LOC465559 35
  • 88.67 (n)
  • 85.21 (a)
(Bos Taurus)
Mammalia DMD 36
  • 99 (a)
(Monodelphis domestica)
Mammalia DMD 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia DMD 36
  • 70 (a)
(Gallus gallus)
Aves DMD 35
  • 78.4 (n)
  • 78.95 (a)
DMD 36
  • 79 (a)
(Anolis carolinensis)
Reptilia DMD 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7243 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15879 35
(Danio rerio)
Actinopterygii dmd 35
dmd 36
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dys 37
  • 45 (a)
Dys 35
  • 48.23 (n)
  • 38.99 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010261 35
  • 50.66 (n)
  • 46.51 (a)
(Caenorhabditis elegans)
Secernentea M116.5 37
  • 42 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14235 35
Species with no ortholog for DMD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMD Gene

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

Paralogs for DMD Gene

Paralogs for DMD Gene Pseudogenes for DMD Gene

genes like me logo Genes that share paralogs with DMD: view

Variants for DMD Gene

Sequence variations from dbSNP and Humsavar for DMD Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs69043 -- 32,519,532(+) TGTAA(A/T)ATAAA intron-variant
rs115571 -- 32,545,371(-) CTTTC(G/T)AGCAA intron-variant
rs119301 -- 32,525,124(+) TTACA(C/T)AATTC intron-variant
rs170604 -- 32,514,298(+) ATTTC(A/G)ACTAA intron-variant
rs170605 -- 32,516,766(+) CAATT(C/T)ACCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMD Gene

Variant ID Type Subtype PubMed ID
esv2661363 CNV Deletion 23128226
esv2031826 CNV Deletion 18987734
nsv521510 CNV Gain 19592680
dgv506n21 CNV Gain 19592680
esv268432 CNV Insertion 20981092
esv272634 CNV Insertion 20981092
nsv519609 CNV Gain 19592680
esv2678922 CNV Deletion 23128226
essv17970 CNV CNV 17122850
esv267532 CNV Insertion 20981092
nsv818022 CNV Gain 17921354
nsv525349 CNV Gain 19592680
nsv527085 CNV Gain 19592680
nsv522266 CNV Gain 19592680
esv2740060 CNV Deletion 23290073
nsv425335 CNV Loss 16902084
esv2740061 CNV Deletion 23290073
esv2630000 CNV Deletion 19546169
esv3926 CNV Deletion 18987735
esv2661550 CNV Deletion 23128226
esv2740063 CNV Deletion 23290073
nsv521457 CNV Gain 19592680
nsv520230 CNV Loss 19592680
nsv521797 CNV Gain 19592680
esv2752321 CNV Loss 17911159
esv2660775 CNV Deletion 23128226
nsv527851 CNV Loss 19592680
nsv526755 CNV Gain 19592680
nsv524418 CNV Gain 19592680
nsv525835 CNV Loss 19592680
nsv829361 CNV Gain 20364138
esv268295 CNV Insertion 20981092
nsv527890 CNV Loss 19592680
nsv6849 CNV Loss 18451855
esv274259 CNV Insertion 20981092
esv268450 CNV Insertion 20981092
nsv470348 CNV Gain 18288195
esv2740064 CNV Deletion 23290073
nsv6850 CNV Insertion 18451855
nsv521798 CNV Gain 19592680
nsv522580 CNV Loss 19592680
nsv528601 CNV Gain 19592680
nsv516788 CNV Gain 19592680
esv2740065 CNV Deletion 23290073
nsv507955 CNV Insertion 20534489
esv2740066 CNV Deletion 23290073
esv2740067 CNV Deletion 23290073
esv21949 CNV Loss 19812545
esv2740068 CNV Deletion 23290073
esv2740069 CNV Deletion 23290073
esv3401 CNV Deletion 18987735
esv2740070 CNV Deletion 23290073
esv2740071 CNV Deletion 23290073
nsv520320 CNV Gain 19592680
nsv521825 CNV Gain 19592680
nsv6851 CNV Insertion 18451855
esv2676948 CNV Deletion 23128226
nsv438128 CNV Loss 16468122
nsv526588 CNV Gain 19592680
esv2740072 CNV Deletion 23290073
nsv510824 CNV Loss 20534489
nsv523241 CNV Gain 19592680
esv2669550 CNV Deletion 23128226
esv23658 CNV Loss 19812545
esv2740074 CNV Deletion 23290073
esv2665010 CNV Deletion 23128226
esv2669002 CNV Deletion 23128226
dgv507n21 CNV Gain 19592680
esv270344 CNV Insertion 20981092
nsv526613 CNV Gain 19592680
nsv528951 CNV Loss 19592680
esv2664435 CNV Deletion 23128226
esv2740075 CNV Deletion 23290073
nsv522648 CNV Gain 19592680
nsv525602 CNV Gain 19592680
esv2678792 CNV Deletion 23128226
esv27228 CNV Loss 19812545
esv1004963 CNV Insertion 20482838
esv1729208 CNV Insertion 17803354
nsv526198 CNV Gain 19592680
esv2427720 CNV Deletion 19546169
nsv512672 CNV Loss 21212237
esv2057266 CNV Deletion 18987734
nsv829362 CNV Loss 20364138
esv26477 CNV Loss 19812545
esv2740076 CNV Deletion 23290073
esv2667614 CNV Deletion 23128226
esv2674877 CNV Deletion 23128226
esv2740077 CNV Deletion 23290073
esv995992 CNV Insertion 20482838
dgv508n21 CNV Gain 19592680
nsv522546 CNV Gain 19592680
esv9670 CNV Loss 19470904
esv1060233 CNV Deletion 17803354
nsv482924 CNV Complex 15286789
nsv520052 CNV Gain 19592680
nsv527706 CNV Gain 19592680
esv2667191 CNV Deletion 23128226
nsv437852 CNV Loss 16327808
nsv525750 CNV Gain 19592680
nsv525738 CNV Gain 19592680
esv269452 CNV Insertion 20981092
esv272498 CNV Insertion 20981092
nsv518478 CNV Loss 19592680

Relevant External Links for DMD Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMD Gene

Disorders for DMD Gene

(3) OMIM Diseases for DMD Gene (300377)


  • 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. {ECO:0000269 PubMed:12632325, ECO:0000269 PubMed:7981690, ECO:0000269 PubMed:8401582, ECO:0000269 PubMed:8817332, ECO:0000269 PubMed:9851445}. 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. {ECO:0000269 PubMed:10573008}. 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. {ECO:0000269 PubMed:12354438, ECO:0000269 PubMed:12359139, ECO:0000269 PubMed:25340340, ECO:0000269 PubMed:9170407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for DMD Gene

(92) Novoseek inferred disease relationships for DMD Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy duchenne 98.4 142
muscular dystrophy becker 98 129
muscular dystrophies 96 145
cardiomyopathy, dilated, x-linked 92.8 16
muscular dystrophy limb-girdle 87 14

Relevant External Links for DMD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DMD: view

No data available for Genatlas for DMD Gene

Publications for DMD Gene

  1. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. (PMID: 12359139) Feng J. … Sommer S.S. (Mol. Genet. Metab. 2002) 3 4 23 48
  2. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. (PMID: 18445268) Wang X. … Zhong N. (Behav Brain Funct 2008) 3 23 48
  3. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. (PMID: 19602481) Daoud F. … Chelly J. (Hum. Mol. Genet. 2009) 3 23 48
  4. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. (PMID: 20098710) Taylor P.J. … Buckley M.F. (PLoS ONE 2010) 3 23 48
  5. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. (PMID: 3282674) Koenig M. … Kunkel L.M. (Cell 1988) 2 3 4

Products for DMD Gene

  • Addgene plasmids for DMD

Sources for DMD Gene

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