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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
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: 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 ]
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 ]
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 ]
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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)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
Gene Ontology (GO) Annotations with Structured Vocabulary
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 cardiomyopathyhsa05416 - 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_004005UCSC ID: uc004dcq.1RefSeq 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:
25 CDS single in 3' UTR:
no
RNA size:
5623
ORF size:
2871 CDS single in intron:
no
Alignment % ID:
99.98
txCdsPredict score:
5951.00 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.