This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cau... See more...

Aliases for DMD Gene

Aliases for DMD Gene

  • Dystrophin 2 3 4 5
  • Dystrophin (Muscular Dystrophy, Duchenne And Becker Types), Includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 2
  • Muscular Dystrophy, Duchenne And Becker Types 2
  • Mental Retardation, X-Linked 85 2
  • DXS142 3
  • DXS164 3
  • DXS206 3
  • DXS230 3
  • DXS239 3
  • DXS268 3
  • DXS269 3
  • DXS270 3
  • DXS272 3
  • CMD3B 3
  • MRX85 3
  • BMD 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

  • This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

GeneCards Summary for DMD Gene

DMD (Dystrophin) is a Protein Coding gene. Diseases associated with DMD include Muscular Dystrophy, Duchenne Type and Muscular Dystrophy, Becker Type. Among its related pathways are Dilated cardiomyopathy (DCM) and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural constituent of cytoskeleton. An important paralog of this gene is UTRN.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for DMD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DMD Gene

Genomics for DMD Gene

GeneHancer (GH) Regulatory Elements for DMD Gene

Promoters and enhancers for DMD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ033338 Promoter/Enhancer 1.3 UCNEbase EPDnew Ensembl ENCODE 750.6 +0.4 384 1.6 ZC3H11A ZFP64 DMD RF00994-1169
GH0XJ033725 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 750.1 -386.5 -386492 2.2 EZH2 SIN3A ENSG00000233928 ENSG00000287700 LOC105373153 DMD lnc-FAM47B-3
GH0XJ033204 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 750.1 +131.4 131443 8.7 POLR2A STAT1 DMD lnc-FAM47A-3 RF00998-144
GH0XJ032413 Enhancer 0.2 FANTOM5 17.9 +925.9 925913 0.1 DMD piR-57461-295 piR-37026-637 lnc-FAM47A-3
GH0XJ033307 Enhancer 0.4 Ensembl ENCODE 0.3 +31.4 31398 1.1 CEBPB RF00017-8290 DMD lnc-FAM47A-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMD on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DMD Gene

Genomic Locations for DMD Gene
2,241,933 bases
Minus strand
2,241,933 bases
Minus strand

Genomic View for DMD Gene

Genes around DMD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:7844150, PubMed:8576247). Interacts with KRT19 (PubMed:16000376). 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 (PubMed:7592992, PubMed:11495720, PubMed:10932245). 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). Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (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

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 & Families for DMD Gene

Gene Families for DMD Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for DMD Gene

GenScript: Design optimal peptide antigens:
  • DMD protein (A1L0U9_HUMAN)
  • Dystrophin (A7E212_HUMAN)
  • Dystrophin (B1AK23_HUMAN)
  • cDNA FLJ60143, highly similar to Homo sapiens dystrophin, transcript variant Dp140bc, mRNA (B4DSV7_HUMAN)
  • Dystrophin (DMD_HUMAN)
genes like me logo Genes that share domains with DMD: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DMD Gene

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.

Phenotypes From GWAS Catalog for DMD Gene

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 IEA,TAS 12376554
GO:0005178 integrin binding IEA --
GO:0005200 structural constituent of cytoskeleton TAS 3282674
GO:0005515 protein binding IPI,IEA 7844150
genes like me logo Genes that share ontologies with DMD: view
genes like me logo Genes that share phenotypes with DMD: view

Human Phenotype Ontology for DMD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DMD Gene

MGI Knock Outs for DMD:
  • Dmd Dmd<tm1Ndl>
  • Dmd Dmd<tm1Smh>
  • Dmd Dmd<tm1Mok>
  • Dmd Dmd<tm1.1Khan>

Animal Model Products

  • Taconic Biosciences Mouse Models for DMD

CRISPR Products

Clone Products

  • Addgene plasmids for DMD

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 adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. {ECO:0000250 UniProtKB:P11531}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMD gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DMD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMD Gene

Pathways & Interactions for DMD Gene

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

Pathways by source for DMD Gene

2 Qiagen pathways for DMD Gene
  • Muscular Dystrophies and Dystrophin-Glycoprotein Complex
  • nNOS Signaling in Skeletal Muscle

Gene Ontology (GO) - Biological Process for DMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 19027585
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0007517 muscle organ development NAS 1824797
GO:0007519 skeletal muscle tissue development IEA --
genes like me logo Genes that share ontologies with DMD: view

No data available for SIGNOR curated interactions for DMD Gene

Drugs & Compounds for DMD Gene

(35) Drugs for DMD Gene - From: PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
eteplirsen Approved, Investigational Pharma 0
PRO044 Pharma 0

(21) Additional Compounds for DMD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DMD: view

Transcripts for DMD Gene

mRNA/cDNA for DMD Gene

(18) REFSEQ mRNAs :
(42) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(32) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for DMD

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.2).

Protein differential expression in normal tissues from HIPED for DMD Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DMD Gene

Protein tissue co-expression partners for DMD Gene

NURSA nuclear receptor signaling pathways regulating expression of DMD Gene:


SOURCE GeneReport for Unigene cluster for DMD Gene:


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.

Evidence on tissue expression from TISSUES for DMD Gene

  • Nervous system(4.9)
  • Muscle(4.8)
  • Eye(4.5)
  • Liver(4.5)
  • Heart(3.7)
  • Blood(2.6)
  • Intestine(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DMD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • pelvis
  • testicle
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DMD: view

Orthologs for DMD Gene

This gene was present in the common ancestor of animals.

Orthologs for DMD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DMD 33
  • 99 (a)
(Canis familiaris)
Mammalia DMD 33 32
  • 92.91 (n)
(Monodelphis domestica)
Mammalia DMD 33
  • 92 (a)
(Mus musculus)
Mammalia Dmd 17 33 32
  • 90.39 (n)
(Pan troglodytes)
Mammalia LOC465559 32
  • 88.67 (n)
(Ornithorhynchus anatinus)
Mammalia DMD 33
  • 70 (a)
(Gallus gallus)
Aves DMD 33 32
  • 78.4 (n)
(Anolis carolinensis)
Reptilia DMD 33
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7243 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.15879 32
(Danio rerio)
Actinopterygii dmd 33 32
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010261 32
  • 50.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dys 34 32
  • 48.23 (n)
(Caenorhabditis elegans)
Secernentea M116.5 34
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.14235 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14235 32
Species where no ortholog for DMD was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for DMD: view image

Paralogs for DMD Gene

(33) SIMAP similar genes for DMD Gene using alignment to 74 proteins:

  • A1L0U9_HUMAN
  • A7E212_HUMAN
  • F8VX32_HUMAN
  • H0Y304_HUMAN
  • H0Y3E8_HUMAN
  • H0Y864_HUMAN
  • L8E939_HUMAN
  • Q14172_HUMAN
  • Q14174_HUMAN
  • Q15945_HUMAN
  • Q16484_HUMAN
  • Q4G0X0_HUMAN
  • Q548X2_HUMAN
  • Q6PK12_HUMAN
  • Q7KZ40_HUMAN
  • Q9UPB5_HUMAN 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 Variation AA Info Type
rs1004456825 likely-benign, Duchenne muscular dystrophy 32,823,355(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1010666282 pathogenic, Duchenne muscular dystrophy 32,411,754(-) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained
rs1014795303 uncertain-significance, Duchenne muscular dystrophy 32,501,760(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1023328955 uncertain-significance, Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B 32,216,945(-) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, missense_variant
rs1028360 benign, likely-benign, not specified, not provided, Dilated cardiomyopathy 3B 32,485,110(-) G/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2249e212 CNV gain 25503493
dgv2250e212 CNV gain 25503493
dgv2251e212 CNV loss 25503493
dgv2252e212 CNV gain 25503493
dgv2253e212 CNV gain 25503493
dgv2254e212 CNV loss 25503493
dgv2255e212 CNV loss 25503493
dgv2256e212 CNV gain 25503493
dgv2257e212 CNV gain 25503493
dgv2258e212 CNV loss 25503493
dgv2259e212 CNV loss 25503493
dgv2260e212 CNV gain 25503493
dgv2261e212 CNV loss 25503493
dgv2262e212 CNV loss 25503493
dgv2263e212 CNV loss 25503493
dgv2264e212 CNV loss 25503493
dgv2265e212 CNV loss 25503493
dgv2266e212 CNV loss 25503493
dgv2267e212 CNV loss 25503493
dgv2268e212 CNV gain 25503493
dgv2269e212 CNV loss 25503493
dgv2270e212 CNV loss 25503493
dgv2271e212 CNV loss 25503493
dgv2272e212 CNV loss 25503493
dgv2273e212 CNV loss 25503493
dgv4223n106 CNV duplication 24896259
dgv4224n106 CNV deletion 24896259
dgv506n21 CNV gain 19592680
dgv507n21 CNV gain 19592680
dgv508n21 CNV gain 19592680
esv1004963 CNV insertion 20482838
esv1060233 CNV deletion 17803354
esv1729208 CNV insertion 17803354
esv2031826 CNV deletion 18987734
esv2057266 CNV deletion 18987734
esv21949 CNV loss 19812545
esv23658 CNV loss 19812545
esv2427720 CNV deletion 19546169
esv2630000 CNV deletion 19546169
esv26477 CNV loss 19812545
esv2660775 CNV deletion 23128226
esv2661363 CNV deletion 23128226
esv2661550 CNV deletion 23128226
esv2664435 CNV deletion 23128226
esv2665010 CNV deletion 23128226
esv2667191 CNV deletion 23128226
esv2667614 CNV deletion 23128226
esv2669002 CNV deletion 23128226
esv2669550 CNV deletion 23128226
esv2674877 CNV deletion 23128226
esv2676948 CNV deletion 23128226
esv2678792 CNV deletion 23128226
esv2678922 CNV deletion 23128226
esv27228 CNV loss 19812545
esv2740060 CNV deletion 23290073
esv2740061 CNV deletion 23290073
esv2740063 CNV deletion 23290073
esv2740064 CNV deletion 23290073
esv2740065 CNV deletion 23290073
esv2740066 CNV deletion 23290073
esv2740067 CNV deletion 23290073
esv2740068 CNV deletion 23290073
esv2740069 CNV deletion 23290073
esv2740070 CNV deletion 23290073
esv2740071 CNV deletion 23290073
esv2740072 CNV deletion 23290073
esv2740074 CNV deletion 23290073
esv2740075 CNV deletion 23290073
esv2740076 CNV deletion 23290073
esv2740077 CNV deletion 23290073
esv2752321 CNV loss 17911159
esv3303252 CNV mobile element insertion 20981092
esv3304016 CNV mobile element insertion 20981092
esv3305174 CNV mobile element insertion 20981092
esv3306067 CNV mobile element insertion 20981092
esv3308224 CNV mobile element insertion 20981092
esv3325307 CNV insertion 20981092
esv3350164 CNV insertion 20981092
esv3390478 CNV insertion 20981092
esv3401 CNV loss 18987735
esv3423433 CNV insertion 20981092
esv3426436 CNV insertion 20981092
esv3434579 CNV duplication 20981092
esv3438333 CNV insertion 20981092
esv3438895 CNV insertion 20981092
esv3447579 CNV insertion 20981092
esv3447804 CNV duplication 20981092
esv3558763 CNV deletion 23714750
esv3558768 CNV deletion 23714750
esv3558769 CNV deletion 23714750
esv3558774 CNV deletion 23714750
esv3558775 CNV deletion 23714750
esv3558776 CNV deletion 23714750
esv3573760 CNV loss 25503493
esv3573769 CNV loss 25503493
esv3573770 CNV loss 25503493
esv3573778 CNV loss 25503493
esv3573780 CNV loss 25503493
esv3573781 CNV loss 25503493
esv3573782 CNV loss 25503493
esv3573783 CNV loss 25503493
esv3573796 CNV loss 25503493
esv3573797 CNV loss 25503493
esv3573799 CNV loss 25503493
esv3573800 CNV loss 25503493
esv3573815 CNV loss 25503493
esv3573827 CNV loss 25503493
esv3573828 CNV loss 25503493
esv3573829 CNV loss 25503493
esv3573837 CNV loss 25503493
esv3573844 CNV loss 25503493
esv3573845 CNV loss 25503493
esv3573846 CNV loss 25503493
esv3573847 CNV loss 25503493
esv3576837 CNV gain 25503493
esv3576838 CNV gain 25503493
esv3576840 CNV gain 25503493
esv3576843 CNV gain 25503493
esv3576844 CNV gain 25503493
esv3926 CNV loss 18987735
esv9670 CNV loss 19470904
esv995992 CNV insertion 20482838
nsv1076704 CNV duplication 25765185
nsv1077580 CNV duplication 25765185
nsv1115259 CNV deletion 24896259
nsv1115260 CNV deletion 24896259
nsv1115854 CNV duplication 24896259
nsv1124499 CNV deletion 24896259
nsv1124500 CNV deletion 24896259
nsv1128532 CNV deletion 24896259
nsv1132759 CNV duplication 24896259
nsv1139397 CNV deletion 24896259
nsv1139398 CNV deletion 24896259
nsv1152530 CNV duplication 26484159
nsv1153777 CNV duplication 26484159
nsv425335 CNV deletion 16902084
nsv437852 CNV loss 16327808
nsv438128 CNV loss 16468122
nsv470348 CNV gain 18288195
nsv475401 CNV novel sequence insertion 20440878
nsv476732 CNV novel sequence insertion 20440878
nsv507955 OTHER sequence alteration 20534489
nsv510824 CNV deletion 20534489
nsv512672 CNV loss 21212237
nsv516788 CNV gain 19592680
nsv518478 CNV loss 19592680
nsv519609 CNV gain 19592680
nsv520052 CNV gain 19592680
nsv520230 CNV loss 19592680
nsv520320 CNV gain 19592680
nsv521457 CNV gain 19592680
nsv521510 CNV gain 19592680
nsv521797 CNV gain 19592680
nsv521798 CNV gain 19592680
nsv521825 CNV gain 19592680
nsv522266 CNV gain 19592680
nsv522546 CNV gain 19592680
nsv522580 CNV loss 19592680
nsv522648 CNV gain 19592680
nsv523241 CNV gain 19592680
nsv524418 CNV gain 19592680
nsv525349 CNV gain 19592680
nsv525602 CNV gain 19592680
nsv525738 CNV gain 19592680
nsv525750 CNV gain 19592680
nsv525835 CNV loss 19592680
nsv526198 CNV gain 19592680
nsv526588 CNV gain 19592680
nsv526613 CNV gain 19592680
nsv526755 CNV gain 19592680
nsv527085 CNV gain 19592680
nsv527706 CNV gain 19592680
nsv527851 CNV loss 19592680
nsv527890 CNV loss 19592680
nsv528601 CNV gain 19592680
nsv528951 CNV loss 19592680
nsv6849 CNV deletion 18451855
nsv6850 CNV insertion 18451855
nsv6851 CNV insertion 18451855
nsv818022 CNV gain 17921354
nsv829361 CNV gain 20364138
nsv829362 CNV loss 20364138
nsv956162 CNV deletion 24416366
nsv957796 CNV deletion 24416366
nsv957829 CNV deletion 24416366

Variation tolerance for DMD Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.86; 98.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for DMD Gene

MalaCards: The human disease database

(85) MalaCards diseases for DMD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DMD in MalaCards View complete list of genes associated with diseases


  • 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:24302611, 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:12359139, ECO:0000269 PubMed:25340340, ECO:0000269 PubMed:9170407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DMD

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DMD: view

No data available for Genatlas for DMD Gene

Publications for DMD Gene

  1. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. (PMID: 20098710) Taylor PJ … Buckley MF (PloS one 2010) 3 23 43 56
  2. [Evaluation of multiplex PCR assay using dual priming oligonucleotide system for detection mutation in the Duchenne muscular dystrophy gene]. (PMID: 18971620) Park Y … Lee KA (The Korean journal of laboratory medicine 2008) 3 23 43 56
  3. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. (PMID: 12359139) Feng J … Sommer SS (Molecular genetics and metabolism 2002) 3 4 43 56
  4. Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. (PMID: 10932245) Huang X … Eck MJ (Nature structural biology 2000) 3 4 23 56
  5. 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. (PMID: 10801490) Norwood FL … Kendrick-Jones J (Structure (London, England : 1993) 2000) 3 4 23 56

Products for DMD Gene