Human Gene DMD (uc004dcq.1)
  Description: Homo sapiens dystrophin (DMD), transcript variant Dp116, mRNA.
RefSeq Summary (NM_004014): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:31,137,345-31,526,415 Size: 389,071 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chrX:31,140,036-31,526,354 Size: 386,319 Coding Exon Count: 25 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:31,137,345-31,526,415)mRNA (may differ from genome)Protein (956 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMalacardsMGIOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DMD
CDC HuGE Published Literature: DMD
Positive Disease Associations: dilated cardiomyopathy , Duchenne muscular dystrophy , muscular dystrophy , X-linked dilated cardiomyopathy
Related Studies:
  1. dilated cardiomyopathy
    Feng J et al. 2002, Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy., Molecular genetics and metabolism. 2002 Sep-Oct;77(2-Jan):119-26. [PubMed 12359139]
  2. Duchenne muscular dystrophy
    Rapaport D et al. 1991, Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy., American journal of medical genetics. 1991 Jun;39(4):437-41. [PubMed 1877622]
  3. muscular dystrophy
    Nigro V et al. 1994, Novel small mutations along the DMD/BMD gene associated with different phenotypes., Human molecular genetics. 1994 Oct;3(10):1907-8. [PubMed 7849724]
           more ... click here to view the complete list

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.5061-0.221 Picture PostScript Text
3' UTR -650.342691-0.242 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:
PF00397 - WW domain
PF00435 - Spectrin repeat
PF00569 - Zinc finger, ZZ type
PF09068 - EF hand
PF09069 - EF-hand

SCOP Domains:
47473 - EF-hand
46966 - Spectrin repeat
51045 - WW domain

ModBase Predicted Comparative 3D Structure on A1L0U9
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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.
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.
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.
JD149132 - Sequence 130156 from Patent EP1572962.
JD519011 - Sequence 500035 from Patent EP1572962.
JD141608 - Sequence 122632 from Patent EP1572962.
JD146443 - Sequence 127467 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).
CU688550 - Synthetic construct Homo sapiens gateway clone IMAGE:100018376 5' read DMD mRNA.
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].
JD198876 - Sequence 179900 from Patent EP1572962.
JD489167 - Sequence 470191 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: A1L0U9, A1L0U9_HUMAN, NM_004014, NP_004005
UCSC ID: uc004dcq.1
RefSeq Accession: NM_004014
Protein: A1L0U9

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004014.2
exon count: 25CDS single in 3' UTR: no RNA size: 5623
ORF size: 2871CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 5951.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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