Human Gene DMD (ENST00000541735.5) Description and Page Index
  Description: Homo sapiens dystrophin (DMD), transcript variant Dp140bc, mRNA. (from RefSeq NM_004023)
RefSeq Summary (NM_004020): 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].
Gencode Transcript: ENST00000541735.5
Gencode Gene: ENSG00000198947.15
Transcript (Including UTRs)
   Position: hg38 chrX:31,119,228-32,155,469 Size: 1,036,242 Total Exon Count: 32 Strand: -
Coding Region
   Position: hg38 chrX:31,121,919-31,774,121 Size: 652,203 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:31,119,228-32,155,469)mRNA (may differ from genome)Protein (1115 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2OMIMPubMedStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F5GZY3_HUMAN
DESCRIPTION: SubName: Full=Dystrophin;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: DMD
Diseases sorted by gene-association score: duchenne muscular dystrophy* (1627), becker muscular dystrophy* (1626), cardiomyopathy, dilated, 3b* (1200), dmd-associated dilated cardiomyopathy* (521), dmd-related dilated cardiomyopathy* (500), muscular dystrophy* (488), symptomatic form of muscular dystrophy of duchenne and becker in female carriers* (350), polyglucosan body myopathy 1 with or without immunodeficiency* (283), isolated hyperckemia* (283), creatine phosphokinase, elevated serum* (231), brody myopathy* (231), myopathy* (175), beckwith-wiedemann syndrome* (133), dystrophinopathies* (119), familial isolated dilated cardiomyopathy* (71), x-linked non-specific intellectual disability* (66), myocarditis (37), distal muscular dystrophy (29), neuromuscular disease (24), muscle tissue disease (21), cardiomyopathy (17), localized lipodystrophy (17), glycerol kinase deficiency (17), autosomal recessive limb-girdle muscular dystrophy (15), extracardiac rhabdomyoma (13), otopalatodigital syndrome (13), cytoplasmic body myopathy (12), centronuclear myopathy (12), aland island eye disease (11), reducing body myopathy (10), stormorken syndrome (10), dilated cardiomyopathy (10), bethlem myopathy 1 (10), myositis (10), glycogen storage disease ii (9), muscular dystrophy-dystroglycanopathy , type a, 4 (9), muscular dystrophy, rigid spine, 1 (9), congenital myopathy (9), adrenal hypoplasia, congenital (9), muscular dystrophy, limb-girdle, type 2c (9), arrhythmogenic right ventricular cardiomyopathy (9), hypertrophic pyloric stenosis (8), mental retardation, x-linked syndromic 5 (8), sarcoglycanopathies (8), walker-warburg syndrome (8), facioscapulohumeral muscular dystrophy 1 (8), pyloric stenosis (8), myofibrillar myopathy (7), myoglobinuria recurrent (7), progressive muscular dystrophy (7), dilated cardiomyopathy 1b (6), congenital fiber-type disproportion (6), emery-dreifuss muscular dystrophy (6), chromosome xp21 deletion syndrome (6), muscular dystrophy, limb-girdle, type 2a (6), muscular dystrophy, congenital merosin-deficient (5), muscular dystrophy, congenital, 1b (5), aleutian mink disease (5), gas gangrene (5), myopathy, x-linked, with excessive autophagy (5), myotonia (5), cardiomyopathy, dilated, 1d (5), cobblestone lissencephaly (5), myopathy, myofibrillar, 2 (5), muscle eye brain disease (4), cardiomyopathy, dilated, 1a (4), muscular dystrophy-dystroglycanopathy , type b, 6 (4), muscular dystrophy-dystroglycanopathy , type b, 5 (3), intrinsic cardiomyopathy (2), muscular dystrophy, congenital (2), eye disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.86 RPKM in Nerve - Tibial
Total median expression: 190.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -277.001041-0.266 Picture PostScript Text
3' UTR -603.902691-0.224 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015153 - EF-hand_dom_typ1
IPR015154 - EF-hand_dom_typ2
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat
IPR001202 - WW_Rsp5_WWP
IPR000433 - Znf_ZZ

Pfam Domains:
PF09068 - EF hand
PF09069 - EF-hand
PF00435 - Spectrin repeat
PF00397 - WW domain
PF00569 - Zinc finger, ZZ type

ModBase Predicted Comparative 3D Structure on F5GZY3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002162 dystroglycan binding
GO:0003779 actin binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding


-  Descriptions from all associated GenBank mRNAs
  AB208836 - Homo sapiens mRNA for dystrophin Dp427c isoform variant protein.
M18533 - Homo sapiens dystrophin (DMD) mRNA, complete cds.
X14298 - Human mRNA for dystrophin.
BC127103 - Homo sapiens dystrophin, mRNA (cDNA clone IMAGE:40124458), complete cds.
BC150141 - Homo sapiens dystrophin, mRNA (cDNA clone IMAGE:40124455), complete cds.
AB527131 - Synthetic construct DNA, clone: pF1KB3134, Homo sapiens DMD gene for dystrophin, without stop codon, in Flexi system.
BC111587 - Synthetic construct Homo sapiens clone IMAGE:40080544, MGC:133407 DMD protein (DMD) mRNA, encodes complete protein.
BC111836 - Synthetic construct Homo sapiens clone IMAGE:40080640, MGC:133428 DMD protein (DMD) mRNA, encodes complete protein.
BC111934 - Synthetic construct Homo sapiens clone IMAGE:40080736, MGC:133449 DMD protein (DMD) mRNA, encodes complete protein.
BC118002 - Synthetic construct Homo sapiens clone IMAGE:40080832, MGC:133386 DMD protein (DMD) mRNA, encodes complete protein.
BC010932 - Homo sapiens dystrophin, mRNA (cDNA clone IMAGE:4273908), with apparent retained intron.
BC070078 - Homo sapiens dystrophin, mRNA (cDNA clone IMAGE:5262850), complete cds.
BC094758 - Homo sapiens dystrophin, mRNA (cDNA clone IMAGE:30336570), complete cds.
BC028720 - Homo sapiens dystrophin, mRNA (cDNA clone IMAGE:4822807), complete cds.
M92650 - Human Duchenne muscular dystrophy (DMD) mRNA, complete cds.
AK299936 - Homo sapiens cDNA FLJ60143 complete cds, highly similar to Homo sapiens dystrophin, transcript variant Dp140bc, mRNA.
KJ896709 - Synthetic construct Homo sapiens clone ccsbBroadEn_06103 DMD gene, encodes complete protein.
KR710729 - Synthetic construct Homo sapiens clone CCSBHm_00016294 DMD (DMD) mRNA, encodes complete protein.
KR710730 - Synthetic construct Homo sapiens clone CCSBHm_00016296 DMD (DMD) mRNA, encodes complete protein.
KR710731 - Synthetic construct Homo sapiens clone CCSBHm_00016308 DMD (DMD) mRNA, encodes complete protein.
KR710732 - Synthetic construct Homo sapiens clone CCSBHm_00016322 DMD (DMD) mRNA, encodes complete protein.
KU178030 - Homo sapiens dystrophin isoform 1 (DMD) mRNA, partial cds.
KU178031 - Homo sapiens dystrophin isoform 2 (DMD) mRNA, complete cds.
KU178032 - Homo sapiens dystrophin isoform 4 (DMD) mRNA, partial cds, alternatively spliced.
KU178033 - Homo sapiens dystrophin isoform 5 (DMD) mRNA, complete cds, alternatively spliced.
KU178034 - Homo sapiens dystrophin isoform 6 (DMD) mRNA, partial cds, alternatively spliced.
CU688550 - Synthetic construct Homo sapiens gateway clone IMAGE:100018376 5' read DMD mRNA.
S60970 - dystrophin {out-of-frame deletion with exons 43 and 48 abutted} [human, lymphoblasts, mRNA Mutant, 95 nt].
AK129855 - Homo sapiens cDNA FLJ26345 fis, clone HRT03668.
JD378954 - Sequence 359978 from Patent EP1572962.
JD163051 - Sequence 144075 from Patent EP1572962.
JD109923 - Sequence 90947 from Patent EP1572962.
JD047018 - Sequence 28042 from Patent EP1572962.
JD050717 - Sequence 31741 from Patent EP1572962.
JD245449 - Sequence 226473 from Patent EP1572962.
JD181893 - Sequence 162917 from Patent EP1572962.
JD289946 - Sequence 270970 from Patent EP1572962.
JD407942 - Sequence 388966 from Patent EP1572962.
JD057780 - Sequence 38804 from Patent EP1572962.
JD100782 - Sequence 81806 from Patent EP1572962.
JD146647 - Sequence 127671 from Patent EP1572962.
JD073316 - Sequence 54340 from Patent EP1572962.
JD038112 - Sequence 19136 from Patent EP1572962.
JD565941 - Sequence 546965 from Patent EP1572962.
JD235537 - Sequence 216561 from Patent EP1572962.
JD261468 - Sequence 242492 from Patent EP1572962.
JD045841 - Sequence 26865 from Patent EP1572962.
JD562648 - Sequence 543672 from Patent EP1572962.
JD519011 - Sequence 500035 from Patent EP1572962.
JD141608 - Sequence 122632 from Patent EP1572962.
HI953430 - Sequence 6 from Patent WO2010136417.
JD431314 - Sequence 412338 from Patent EP1572962.
JD087828 - Sequence 68852 from Patent EP1572962.
JD345950 - Sequence 326974 from Patent EP1572962.
X15149 - Human mRNA for dystrophin isoform (partial).
S38776 - Homo sapiens dystrophin (DMD) mRNA, partial cds, alternatively spliced.
S42206 - DMD=dystrophin {alternative first exon} [human, mRNA Partial, 120 nt].
S62617 - dystrophin gene {alternatively spliced} [human, peripheral nerve, mRNA Partial, 106 nt].
HZ042055 - JP 2015509922-A/12: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268244 - JP 2018050617-A/12: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
HZ042054 - JP 2015509922-A/11: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268243 - JP 2018050617-A/11: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
HZ042053 - JP 2015509922-A/10: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268242 - JP 2018050617-A/10: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
AF533682 - Homo sapiens IL1RAPL1/dystrophin fusion protein mRNA, partial cds.
AX306789 - Sequence 2 from Patent EP1160318.
AX399636 - Sequence 4 from Patent EP1191098.
BD128308 - Remedy for Duchenne muscular dystrophy.
BD181305 - Medicament for treatment of duchenne muscular dystrophy.
CS114466 - Sequence 2 from Patent EP1544297.
HV590036 - JP 2010268815-A/2: Pharmaceutical Composition for Treatment of Duchenne Muscular Dystrophy.
HZ042052 - JP 2015509922-A/9: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268241 - JP 2018050617-A/9: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
M63072 - Human Duchenne muscular dystrophy protein (DMD) mRNA, 3' end.
S60973 - dystrophin {out-of-frame deletion of exon 50} [human, fibroblasts, mRNA Mutant, 362 nt].
HZ042051 - JP 2015509922-A/8: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268240 - JP 2018050617-A/8: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
JD240743 - Sequence 221767 from Patent EP1572962.
HZ042050 - JP 2015509922-A/7: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268239 - JP 2018050617-A/7: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
HZ042049 - JP 2015509922-A/6: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268238 - JP 2018050617-A/6: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
JD310625 - Sequence 291649 from Patent EP1572962.
HZ387853 - JP 2015522275-A/1584: Oligonucleotide for the treatment of muscular dystrophy patients.
HZ042048 - JP 2015509922-A/5: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268237 - JP 2018050617-A/5: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
JD084855 - Sequence 65879 from Patent EP1572962.
JD284249 - Sequence 265273 from Patent EP1572962.
HZ042047 - JP 2015509922-A/4: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268236 - JP 2018050617-A/4: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
HZ387854 - JP 2015522275-A/1585: Oligonucleotide for the treatment of muscular dystrophy patients.
JD335191 - Sequence 316215 from Patent EP1572962.
HZ042046 - JP 2015509922-A/3: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268235 - JP 2018050617-A/3: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
JD093653 - Sequence 74677 from Patent EP1572962.
HZ042045 - JP 2015509922-A/2: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
MA268234 - JP 2018050617-A/2: RNA modulating oligonucleotides with improved characteristics for the treatment of Duchenne and Becker muscular dystrophy.
JD168924 - Sequence 149948 from Patent EP1572962.
S60091 - dystrophin {exon 43 directly spliced to exon 45} [human, lymphocytes, mRNA Partial Mutant, 70 nt].
L35854 - Human dystrophin (dp140) mRNA, 5' end.
JD454674 - Sequence 435698 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy
hsa05416 - Viral myocarditis

BioCarta from NCI Cancer Genome Anatomy Project
h_agrPathway - Agrin in Postsynaptic Differentiation

-  Other Names for This Gene
  Alternate Gene Symbols: F5GZY3, F5GZY3_HUMAN, NM_004023, uc004dcr.1
UCSC ID: uc004dcr.1
RefSeq Accession: NM_004020
Protein: F5GZY3 CCDS: CCDS55394.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DMD:
ahc (NR0B1-Related Adrenal Hypoplasia Congenita)
dbmd (Dystrophinopathies)
dcm-ov (Dilated Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.