Dmd (dystrophin) - Rat Genome Database

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Gene: Dmd (dystrophin) Rattus norvegicus
Analyze
Symbol: Dmd
Name: dystrophin
RGD ID: 2507
Description: Enables several functions, including PDZ domain binding activity; integrin binding activity; and lamin binding activity. Involved in several processes, including nervous system development; regulation of neuron differentiation; and response to denervation involved in regulation of muscle adaptation. Located in several cellular components, including mitochondrial membrane; neurofilament; and secretory vesicle. Part of dystrophin-associated glycoprotein complex. Used to study Duchenne muscular dystrophy; brain edema; and dilated cardiomyopathy. Biomarker of muscular atrophy; retinal degeneration; and status epilepticus. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin); INTERACTS WITH (+)-pilocarpine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: apodystrophin-3; apodystrophin-I; DNADMD1; dystrophin transcript variant Dp71e; dystrophin, muscular dystrophy; dystrophin-related; RATDMD; RNDNADMD1
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Dmdem1Kykn   Dmdem1Ang  
Genetic Models: SD-Dmdem1Ang W-Dmdem1Kykn
Is Marker For: Strains:   W-Dmdem2Kykn   W-Dmdem3Kykn  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X51,070,098 - 53,437,845 (+)NCBIGRCr8
mRatBN7.2X47,272,324 - 49,504,219 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX47,272,331 - 49,504,207 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX48,634,357 - 50,843,096 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X52,101,232 - 54,314,949 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X49,765,630 - 51,974,308 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X51,149,358 - 53,519,271 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX51,286,737 - 53,519,259 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X51,475,950 - 53,700,033 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X71,501,362 - 71,671,414 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X71,574,653 - 71,744,706 (+)NCBI
CeleraX49,967,398 - 50,127,432 (+)NCBICelera
Cytogenetic MapXq21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Animal Disease Models  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (ISO)
Ataxia  (ISO)
atrial heart septal defect  (ISO)
autistic disorder  (ISO)
Becker muscular dystrophy  (ISO,ISS)
brain edema  (IDA)
Brugada syndrome  (ISO)
calcinosis  (ISO)
Cardiac Conduction Defect  (ISO)
Cardiac Fibrosis  (IMP)
Cardiomegaly  (ISO)
cardiomyopathy  (ISO)
cataract  (ISO)
cognitive disorder  (ISO)
color blindness  (ISO)
colorectal cancer  (ISO)
congestive heart failure  (ISO)
Dehydration  (IEP)
dilated cardiomyopathy  (IMP,ISO)
dilated cardiomyopathy 1A  (ISO)
dilated cardiomyopathy 1B  (ISO)
dilated cardiomyopathy 1H  (ISO)
Dilated Cardiomyopathy with Left Ventricular Noncompaction  (ISO)
Duchenne muscular dystrophy  (IMP,ISO,ISS)
embryonal rhabdomyosarcoma  (ISO)
Exertional Myalgia, Muscle Stiffness and Myoglobinuria  (ISO)
Experimental Seizures  (IEP)
familial hypertrophic cardiomyopathy  (ISO)
Fanconi anemia complementation group A  (ISO)
Funnel Chest  (ISO)
gastrointestinal stromal tumor  (ISO)
genetic disease  (ISO)
Heart Block  (ISO)
hypertrophic cardiomyopathy  (ISO)
hypertrophic cardiomyopathy 1  (ISO)
intellectual disability  (ISO)
isolated elevated serum creatine phosphokinase levels  (ISO)
leiomyosarcoma  (ISO)
long QT syndrome  (ISO)
McLeod syndrome  (ISO)
Muscle Cramp  (ISO)
Muscle Weakness  (ISO)
muscular atrophy  (IEP)
muscular dystrophy  (ISO)
Muscular Dystrophy, Animal  (ISO)
myocarditis  (ISO)
myopathy  (ISO)
Necrosis  (ISO)
Neoplasm Invasiveness  (ISO)
Neoplasm Metastasis  (ISO)
Neurodevelopmental Disorders  (ISO)
orbital disease  (ISO)
ornithine carbamoyltransferase deficiency  (ISO)
polycystic ovary syndrome  (ISO)
ptosis  (ISO)
restrictive cardiomyopathy  (ISO)
retinal degeneration  (IEP)
schizophrenia  (ISO)
Spasm  (ISO)
status epilepticus  (IEP,ISO)
Sudden Unexpected Nocturnal Death Syndrome  (ISO)
syndromic X-linked intellectual disability Lubs type  (ISO)
Ventricular Dysfunction  (ISO)
X-linked adrenal hypoplasia congenita  (ISO)
X-linked dilated cardiomyopathy  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (EXP)
(-)-demecolcine  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,3,7,8-Tetrachlorodibenzofuran  (EXP)
2,6-dinitrotoluene  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP)
6alpha-methylprednisolone  (ISO)
acetaldehyde  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (EXP)
antirheumatic drug  (ISO)
apocynin  (ISO)
aristolochic acid A  (ISO)
arsenite(3-)  (ISO)
ATP  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (ISO)
Cannabidivarin  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (ISO)
chlordecone  (ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
copper(II) chloride  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
cyclosporin A  (ISO)
daunorubicin  (ISO)
DDT  (EXP)
dibutyl phthalate  (ISO)
dinophysistoxin 1  (ISO)
dioxygen  (ISO)
dobutamine  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
ethanol  (ISO)
etoposide  (ISO)
fenofibrate  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
FR900359  (ISO)
fulvestrant  (ISO)
geldanamycin  (ISO)
genistein  (ISO)
gentamycin  (ISO)
graphite  (EXP)
hydrogen peroxide  (ISO)
isoprenaline  (EXP,ISO)
lead(0)  (ISO)
lipopolysaccharide  (ISO)
menadione  (ISO)
methamphetamine  (ISO)
methoxychlor  (EXP)
mitomycin C  (ISO)
mitoxantrone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nickel atom  (ISO)
nifedipine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (EXP,ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propanal  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
serpentine asbestos  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
spermine  (ISO)
taurine  (ISO)
tetrachloromethane  (ISO)
tioguanine  (ISO)
trichostatin A  (ISO)
triptonide  (ISO)
valproic acid  (ISO)
vinclozolin  (EXP)
vincristine  (ISO)
vorinostat  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (ISO)
bone development  (ISO)
cardiac muscle cell action potential  (ISO)
cardiac muscle contraction  (ISO)
cell differentiation  (IEP)
cerebral cortex development  (IEP)
connective tissue development  (ISO)
determination of adult lifespan  (ISO)
establishment of blood-nerve barrier  (ISO)
establishment of glial blood-brain barrier  (ISO)
gene expression  (ISO)
inflammatory response  (ISO)
limb development  (ISO)
multicellular organism growth  (ISO)
muscle cell cellular homeostasis  (ISO)
muscle cell development  (IBA,ISO)
muscle cell differentiation  (IEP)
muscle organ development  (ISO)
myotube cell development  (ISO)
negative regulation of ERK1 and ERK2 cascade  (ISO)
negative regulation of neuron differentiation  (IMP)
negative regulation of peptidyl-cysteine S-nitrosylation  (ISO)
negative regulation of peptidyl-serine phosphorylation  (IEA,ISO)
neuron development  (IBA)
neuron differentiation  (IEP)
neuron projection morphogenesis  (IMP)
nucleus localization  (ISO)
olfactory nerve structural organization  (ISO)
peptide biosynthetic process  (ISO)
positive regulation of cell population proliferation  (IMP)
positive regulation of cell-matrix adhesion  (ISO)
positive regulation of neuron differentiation  (IMP,ISO)
positive regulation of neuron projection development  (IMP,ISO)
positive regulation of sodium ion transmembrane transporter activity  (IEA,ISO)
protein localization  (ISO)
protein-containing complex assembly  (ISO)
reactive oxygen species biosynthetic process  (ISO)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (ISO)
regulation of cellular response to growth factor stimulus  (IMP,ISO)
regulation of DNA-templated transcription  (ISO)
regulation of gene expression  (ISO)
regulation of heart rate  (ISO)
regulation of membrane potential  (ISO)
regulation of muscle system process  (IBA)
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  (ISO)
regulation of ryanodine-sensitive calcium-release channel activity  (IEA,ISO)
regulation of skeletal muscle contraction  (ISO)
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  (ISO)
regulation of voltage-gated calcium channel activity  (IEA,ISO)
response to denervation involved in regulation of muscle adaptation  (IEP)
response to muscle stretch  (ISO)
response to xenobiotic stimulus  (ISO)
skeletal muscle tissue development  (IBA,ISO)
skeletal muscle tissue regeneration  (IEP,ISO)
striated muscle cell development  (ISO)
striated muscle contraction  (ISO)
synaptic signaling  (IBA)
synaptic transmission, cholinergic  (ISO)
walking behavior  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Dystrophin Dp71 is required for neurite outgrowth in PC12 cells. Acosta R, etal., Exp Cell Res. 2004 Jun 10;296(2):265-75.
2. Decreased myocardial expression of dystrophin and titin mRNA and protein in dilated cardiomyopathy: possibly an adverse effect of TNF-alpha. Ahmad S, etal., J Clin Immunol. 2010 Jul;30(4):520-30. Epub 2010 Apr 7.
3. Subcellular localization of Dp71 dystrophin isoforms in cultured hippocampal neurons and forebrain astrocytes. Aleman V, etal., Histochem Cell Biol. 2001 Mar;115(3):243-54.
4. Characterization of Dp71¿(78-79), a novel dystrophin mutant that stimulates PC12 cell differentiation. Aragón J, etal., J Neurochem. 2011 Nov;119(4):697-707. doi: 10.1111/j.1471-4159.2011.07347.x. Epub 2011 Sep 22.
5. Increased expression of dystrophin, beta-dystroglycan and adhalin in denervated rat muscles. Biral D, etal., J Muscle Res Cell Motil. 1996 Oct;17(5):523-32.
6. Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Blake DJ, etal., Hum Mol Genet 1992 May;1(2):103-9.
7. Different dystrophin-like complexes are expressed in neurons and glia. Blake DJ, etal., J Cell Biol. 1999 Nov 1;147(3):645-58. doi: 10.1083/jcb.147.3.645.
8. Phosphorylation of dystrophin Dp71d by Ca2+/calmodulin-dependent protein kinase II modulates the Dp71d nuclear localization in PC12 cells. Calderilla-Barbosa L, etal., J Neurochem. 2006 Aug;98(3):713-22.
9. Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies. Chamova T, etal., Balkan J Med Genet. 2013 Jun;16(1):21-30. doi: 10.2478/bjmg-2013-0014.
10. Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy. Chockalingam PS, etal., Am J Physiol Cell Physiol 2002 Aug;283(2):C500-11.
11. Mitochondrial expression of a short dystrophin-like product with molecular weight of 71 kDa. Chávez O, etal., Biochem Biophys Res Commun. 2000 Aug 2;274(2):275-80.
12. Expression of dystrophin Dp71 during PC12 cell differentiation. Cisneros B, etal., Neurosci Lett. 1996 Aug 2;213(2):107-10.
13. Differential distribution of dystrophins in rat retina. Claudepierre T, etal., Invest Ophthalmol Vis Sci 1999 Jun;40(7):1520-9.
14. Characterization of the intermolecular associations of the dystrophin-associated glycoprotein complex in retinal Muller glial cells. Claudepierre T, etal., J Cell Sci. 2000 Oct;113 Pt 19:3409-17.
15. Dp71f modulates GSK3-beta recruitment to the beta1-integrin adhesion complex. Cortes JC, etal., Neurochem Res. 2009 Mar;34(3):438-44. Epub 2008 Aug 2.
16. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. de Brouwer AP, etal., Eur J Hum Genet. 2014 Apr;22(4):480-5. doi: 10.1038/ejhg.2013.169. Epub 2013 Jul 31.
17. Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Deconinck AE, etal., Cell 1997 Aug 22;90(4):717-27.
18. Dystrophins in neurohypophysial lobe of normal and dehydrated rats: immunolocalization and biochemical characterization. Dorbani-Mamine L, etal., Neuroreport. 1998 Nov 16;9(16):3583-7.
19. Dystrophin Dp71 in PC12 cell adhesion. Enriquez-Aragon JA, etal., Neuroreport. 2005 Feb 28;16(3):235-8.
20. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Feng J, etal., Mol Genet Metab. 2002 Sep-Oct;77(1-2):119-26.
21. Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect. Flanigan KM, etal., Hum Gene Ther. 2013 Sep;24(9):797-806. doi: 10.1089/hum.2013.092.
22. Lack of dystrophin protein Dp71 results in progressive cataract formation due to loss of fiber cell organization. Fort PE, etal., Mol Vis. 2014 Nov 4;20:1480-90. eCollection 2014.
23. Biochemical and histochemical analysis of 71 kDa dystrophin isoform (Dp71f) in rat brain. Garcia-Tovar CG, etal., Acta Histochem. 2001 Apr;103(2):209-24.
24. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
25. Inhibition of myostatin promotes myogenic differentiation of rat bone marrow-derived mesenchymal stromal cells. Geng J, etal., Cytotherapy. 2009;11(7):849-63.
26. Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene. Gilgenkrantz H, etal., J Biol Chem 1992 May 25;267(15):10823-30.
27. Kainate-evoked changes in dystrophin messenger RNA levels in the rat hippocampus. Górecki DC, etal., Neuroscience. 1998 May;84(2):467-77.
28. The expression of dystrophin, alpha-sarcoglycan, and beta-dystroglycan during skeletal muscle regeneration: immunohistochemical and western blot studies. Hoshino S, etal., Acta Histochem. 2002;104(2):139-47.
29. The demonstration of immunoreactive dystrophin and its developmental expression in perivascular astrocytes. Jancsik V and Hajós F, Brain Res. 1999 Jun 12;831(1-2):200-5.
30. Interleukin-18 attenuates disruption of brain-blood barrier induced by status epilepticus within the rat piriform cortex in interferon-gamma independent pathway. Jung HK, etal., Brain Res. 2012 Apr 4;1447:126-34. Epub 2012 Jan 31.
31. Possible molecular mechanisms underlying age-related cardiomyocyte apoptosis in the F344XBN rat heart. Kakarla SK, etal., J Gerontol A Biol Sci Med Sci. 2010 Feb;65(2):147-55. Epub 2010 Jan 7.
32. Astroglial loss and edema formation in the rat piriform cortex and hippocampus following pilocarpine-induced status epilepticus. Kim JE, etal., J Comp Neurol. 2010 Nov 15;518(22):4612-28.
33. Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy. Kim TW, etal., Proc Natl Acad Sci U S A. 1992 Dec 1;89(23):11642-4.
34. Loss of intracellular dystrophin: a potential mechanism for myocardial reperfusion injury. Kyoi S, etal., Circ J. 2003 Aug;67(8):725-7.
35. Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy. Larcher T, etal., PLoS One. 2014 Oct 13;9(10):e110371. doi: 10.1371/journal.pone.0110371. eCollection 2014.
36. Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins. Leonoudakis D, etal., J Biol Chem. 2004 May 21;279(21):22331-46. Epub 2004 Mar 15.
37. Mapping the in vitro interactome of cardiac sodium (Na+ )-calcium (Ca2+ ) exchanger 1 (NCX1). Lubelwana Hafver T, etal., Proteomics. 2017 Sep;17(17-18). doi: 10.1002/pmic.201600417.
38. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Malhotra SB, etal., Science. 1988 Nov 4;242(4879):755-9.
39. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
40. Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse. Miller G, etal., Hum Mol Genet. 2012 Oct 15;21(20):4508-20. Epub 2012 Jul 18.
41. Generation of muscular dystrophy model rats with a CRISPR/Cas system. Nakamura K, etal., Sci Rep. 2014 Jul 9;4:5635. doi: 10.1038/srep05635.
42. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
43. Interdependence of laminin-mediated clustering of lipid rafts and the dystrophin complex in astrocytes. Noel G, etal., J Biol Chem. 2009 Jul 17;284(29):19694-704. Epub 2009 May 18.
44. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
45. Localization of alpha 7 integrins and dystrophin suggests potential for both lateral and longitudinal transmission of tension in large mammalian muscles. Paul AC, etal., Cell Tissue Res. 2002 May;308(2):255-65. Epub 2002 Apr 13.
46. Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene. Rapaport D, etal., Differentiation 1992 Apr;49(3):187-93.
47. GOA pipeline RGD automated data pipeline
48. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
49. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
50. Age-related dystrophin-glycoprotein complex structure and function in the rat extensor digitorum longus and soleus muscle. Rice KM, etal., J Gerontol A Biol Sci Med Sci. 2006 Nov;61(11):1119-29.
51. Identification of Dp71e, a new dystrophin with a novel carboxy-terminal end. Saint Martin A, etal., FEBS J. 2012 Jan;279(1):66-77. doi: 10.1111/j.1742-4658.2011.08399.x. Epub 2011 Nov 17.
52. DMD transcript imbalance determines dystrophin levels. Spitali P, etal., FASEB J. 2013 Dec;27(12):4909-16. doi: 10.1096/fj.13-232025. Epub 2013 Aug 23.
53. Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Tinsley JM, etal., Hum Mol Genet 1993 May;2(5):521-4.
54. Cloning and characterization of cytokeratins 8 and 19 in adult rat striated muscle. Interaction with the dystrophin glycoprotein complex. Ursitti JA, etal., J Biol Chem. 2004 Oct 1;279(40):41830-8. Epub 2004 Jul 6.
55. Remodeling of dystrophin and sarcomeric Z-band occurs in pediatric cardiomyopathies: a unifying mechanism for force transmission defect. Vatta M, etal., J Cardiovasc Med (Hagerstown). 2009 Feb;10(2):149-56. doi: 10.2459/JCM.0b013e328318954c.
56. Knockdown of dystrophin Dp71 impairs PC12 cells cycle: localization in the spindle and cytokinesis structures implies a role for Dp71 in cell division. Villarreal-Silva M, etal., PLoS One. 2011;6(8):e23504. doi: 10.1371/journal.pone.0023504. Epub 2011 Aug 19.
57. Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium. Wehling-Henricks M, etal., Hum Mol Genet. 2005 Jul 15;14(14):1921-33. doi: 10.1093/hmg/ddi197. Epub 2005 May 25.
Additional References at PubMed
PMID:6583703   PMID:7545544   PMID:7592992   PMID:7890770   PMID:7919967   PMID:8007658   PMID:8663016   PMID:9334395   PMID:10867799   PMID:10995443   PMID:11115849   PMID:11259414  
PMID:11316798   PMID:11717465   PMID:11882673   PMID:12115694   PMID:12370193   PMID:12416719   PMID:12673830   PMID:12895031   PMID:14627610   PMID:14643017   PMID:14645204   PMID:14711029  
PMID:14718391   PMID:15001448   PMID:15501597   PMID:16000376   PMID:16371353   PMID:16803572   PMID:16810681   PMID:16841465   PMID:16935300   PMID:17164264   PMID:17436058   PMID:17993586  
PMID:18468998   PMID:18586242   PMID:18687308   PMID:19027585   PMID:19198614   PMID:19535499   PMID:19681445   PMID:19784870   PMID:19924636   PMID:20080623   PMID:20097170   PMID:20717635  
PMID:21029730   PMID:21164104   PMID:21677768   PMID:22000014   PMID:23263329   PMID:25139234   PMID:25931508   PMID:26004254   PMID:26378780   PMID:26411569   PMID:27225184   PMID:28851655  
PMID:29267303   PMID:29625189   PMID:31095755   PMID:32859695   PMID:33046751   PMID:33989907   PMID:35082358   PMID:36155058   PMID:37933572   PMID:38246612  


Genomics

Comparative Map Data
Dmd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X51,070,098 - 53,437,845 (+)NCBIGRCr8
mRatBN7.2X47,272,324 - 49,504,219 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX47,272,331 - 49,504,207 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX48,634,357 - 50,843,096 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X52,101,232 - 54,314,949 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X49,765,630 - 51,974,308 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X51,149,358 - 53,519,271 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX51,286,737 - 53,519,259 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X51,475,950 - 53,700,033 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X71,501,362 - 71,671,414 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X71,574,653 - 71,744,706 (+)NCBI
CeleraX49,967,398 - 50,127,432 (+)NCBICelera
Cytogenetic MapXq21NCBI
DMD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X31,119,222 - 33,339,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX31,097,677 - 33,339,609 (-)EnsemblGRCh38hg38GRCh38
GRCh37X31,137,339 - 33,357,505 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X31,047,266 - 33,267,647 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X30,955,968 - 31,044,681NCBI
CeleraX35,264,860 - 37,484,992 (-)NCBICelera
Cytogenetic MapXp21.2-p21.1NCBI
HuRefX28,877,768 - 31,095,562 (-)NCBIHuRef
CHM1_1X31,168,731 - 33,388,091 (-)NCBICHM1_1
T2T-CHM13v2.0X30,717,372 - 32,937,500 (-)NCBIT2T-CHM13v2.0
Dmd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X81,858,244 - 84,248,656 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX81,992,476 - 84,249,747 (+)EnsemblGRCm39 Ensembl
GRCm38X82,814,664 - 85,205,050 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX82,948,870 - 85,206,141 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X80,194,209 - 82,450,389 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X79,201,622 - 81,457,760 (+)NCBIMGSCv36mm8
CeleraX74,178,103 - 76,399,942 (+)NCBICelera
Cytogenetic MapXC1NCBI
cM MapX38.38NCBI
Dmd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555351,283,523 - 3,299,542 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555351,283,084 - 3,297,015 (+)NCBIChiLan1.0ChiLan1.0
DMD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X32,929,927 - 35,148,561 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X32,933,306 - 35,024,079 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X23,728,650 - 26,338,849 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X31,279,878 - 32,974,614 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX31,282,415 - 33,492,733 (-)Ensemblpanpan1.1panPan2
DMD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X26,290,903 - 28,444,635 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX26,290,910 - 28,333,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX31,264,482 - 33,330,008 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X26,319,830 - 28,487,633 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX26,319,823 - 28,377,504 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X26,365,124 - 28,433,100 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X26,358,103 - 28,426,635 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X26,455,978 - 28,540,050 (-)NCBIUU_Cfam_GSD_1.0
Dmd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X19,065,166 - 21,072,605 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365537,157,526 - 7,943,703 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DMD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX27,028,231 - 28,383,840 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X27,028,223 - 29,650,728 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X29,663,010 - 29,797,624 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2X29,402,260 - 29,549,360 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2X30,958,632 - 31,033,485 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2X30,368,459 - 30,440,314 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2X31,219,126 - 31,875,451 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DMD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X29,543,003 - 32,218,011 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605631,608,900 - 34,272,207 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dmd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476222,746,729 - 24,847,938 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476222,306,962 - 24,846,427 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Dmd
9088 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:267
Count of miRNA genes:176
Interacting mature miRNAs:209
Transcripts:ENSRNOT00000034372
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298071Edpm12Estrogen-dependent pituitary mass QTL 123.2pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)X292789847927898Rat
61430Cia18Collagen induced arthritis QTL 183.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)X14843113120568734Rat
738035Stresp1Stress response QTL 14.960.000011stress-related behavior trait (VT:0010451)defensive burying - copingX41304447112935181Rat
10755455Coatc13Coat color QTL 130coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)7440600049406000Rat
631666Iddm5Insulin dependent diabetes mellitus QTL 5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X449454949494549Rat
71116Niddm16Non-insulin dependent diabetes mellitus QTL 167.81blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X1529780260297802Rat
1598837Memor13Memory QTL 133.2exploratory behavior trait (VT:0010471)difference between time of physical contact/close proximity of test subject and social stimulus during sample phase and test phase (CMO:0002678)X41052407146860749Rat

Markers in Region
DXWox18  
Rat AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22UniSTS
DXWox19  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X49,502,097 - 49,502,321 (+)MAPPERmRatBN7.2
Rnor_6.0X53,517,148 - 53,517,371NCBIRnor6.0
Rnor_5.0X53,697,910 - 53,698,133UniSTSRnor5.0
RGSC_v3.4X71,671,410 - 71,671,633UniSTSRGSC3.4
CeleraX50,127,428 - 50,127,649UniSTS
Cytogenetic MapXq22UniSTS
DXMit8.3  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X49,502,177 - 49,502,355 (+)MAPPERmRatBN7.2
Rnor_6.0X53,517,228 - 53,517,405NCBIRnor6.0
Rnor_5.0X53,697,990 - 53,698,167UniSTSRnor5.0
RGSC_v3.4X71,671,490 - 71,671,667UniSTSRGSC3.4
CeleraX50,127,506 - 50,127,683UniSTS
Cytogenetic MapXq22UniSTS
DMD  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X48,107,766 - 48,107,865 (+)MAPPERmRatBN7.2
Rnor_6.0X52,122,081 - 52,122,179NCBIRnor6.0
Rnor_5.0X52,308,276 - 52,308,374UniSTSRnor5.0
RGSC_v3.4X70,237,157 - 70,237,255UniSTSRGSC3.4
CeleraX48,737,083 - 48,737,181UniSTS
Cytogenetic MapXq22UniSTS
BE121015  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X49,409,311 - 49,409,509 (+)MAPPERmRatBN7.2
Rnor_6.0X53,424,378 - 53,424,575NCBIRnor6.0
Rnor_5.0X53,605,142 - 53,605,339UniSTSRnor5.0
RGSC_v3.4X71,566,440 - 71,566,637UniSTSRGSC3.4
CeleraX50,034,719 - 50,034,916UniSTS
RH 3.4 MapX658.4UniSTS
Cytogenetic MapXq22UniSTS
DMD  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X49,403,608 - 49,403,676 (+)MAPPERmRatBN7.2
Rnor_6.0X53,418,677 - 53,418,744NCBIRnor6.0
Rnor_5.0X53,599,441 - 53,599,508UniSTSRnor5.0
RGSC_v3.4X71,560,750 - 71,560,817UniSTSRGSC3.4
CeleraX50,029,018 - 50,029,085UniSTS
Cytogenetic MapXq22UniSTS


Related Rat Strains
The following Strains have been annotated to Dmd
W-Dmdem2Kykn     W-Dmdem3Kykn    


Genetic Models
This gene Dmd is modified in the following models/strains:
SD-Dmdem1Ang     W-Dmdem1Kykn    


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001005244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008773252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008773253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017601907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017601908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017601909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017601910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017601911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017601912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039099484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063279805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC094963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC111223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC113761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY326947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY326948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY326949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY390386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB750007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB808044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF510048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP798809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW629392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW629393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW629394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW629395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW629396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S38777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSRNOT00000034372   ⟹   ENSRNOP00000032859
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX49,345,362 - 49,501,881 (+)Ensembl
Rnor_6.0 EnsemblX53,360,839 - 53,517,142 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000035692   ⟹   ENSRNOP00000029969
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX47,272,331 - 49,504,207 (+)Ensembl
Rnor_6.0 EnsemblX51,286,737 - 53,519,259 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000058357   ⟹   ENSRNOP00000055159
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 EnsemblX53,053,609 - 53,123,476 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000081061   ⟹   ENSRNOP00000072441
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX49,350,887 - 49,501,881 (+)Ensembl
Rnor_6.0 EnsemblX53,360,839 - 53,517,142 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000091467   ⟹   ENSRNOP00000074105
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX49,345,393 - 49,502,092 (+)Ensembl
Rnor_6.0 EnsemblX53,360,839 - 53,517,142 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000094721   ⟹   ENSRNOP00000095060
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX47,272,331 - 49,504,207 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000109261   ⟹   ENSRNOP00000090095
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX49,350,887 - 49,490,651 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000109716   ⟹   ENSRNOP00000076354
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX48,144,334 - 49,504,207 (+)Ensembl
RefSeq Acc Id: NM_001005244   ⟹   NP_001005244
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X53,279,013 - 53,435,390 (+)NCBI
mRatBN7.2X49,345,362 - 49,501,764 (+)NCBI
Rnor_6.0X53,360,808 - 53,516,814 (+)NCBI
Rnor_5.0X51,475,950 - 53,700,033 (+)NCBI
RGSC_v3.4X71,501,362 - 71,671,414 (+)RGD
CeleraX49,967,398 - 50,127,094 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005246   ⟹   NP_001005246
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X53,279,044 - 53,435,728 (+)NCBI
mRatBN7.2X49,345,393 - 49,502,102 (+)NCBI
Rnor_6.0X53,360,839 - 53,517,152 (+)NCBI
Rnor_5.0X51,475,950 - 53,700,033 (+)NCBI
RGSC_v3.4X71,501,362 - 71,671,414 (+)RGD
CeleraX49,967,429 - 50,127,432 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370876   ⟹   NP_001357805
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,206,086 - 53,437,845 (+)NCBI
mRatBN7.2X47,272,324 - 49,504,219 (+)NCBI
RefSeq Acc Id: NM_012698   ⟹   NP_036830
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X53,279,013 - 53,435,390 (+)NCBI
mRatBN7.2X49,345,362 - 49,501,764 (+)NCBI
Rnor_6.0X53,360,808 - 53,516,814 (+)NCBI
Rnor_5.0X51,475,950 - 53,700,033 (+)NCBI
RGSC_v3.4X71,501,362 - 71,671,414 (+)RGD
CeleraX49,967,398 - 50,127,094 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008773252   ⟹   XP_008771474
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X53,278,974 - 53,437,845 (+)NCBI
mRatBN7.2X49,345,318 - 49,504,219 (+)NCBI
Rnor_6.0X53,360,777 - 53,519,271 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008773253   ⟹   XP_008771475
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X53,278,975 - 53,437,845 (+)NCBI
mRatBN7.2X49,345,318 - 49,504,219 (+)NCBI
Rnor_6.0X53,360,778 - 53,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017601909   ⟹   XP_017457398
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,073 - 53,437,845 (+)NCBI
mRatBN7.2X47,272,506 - 49,504,219 (+)NCBI
Rnor_6.0X51,286,674 - 53,519,271 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039099484   ⟹   XP_038955412
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,611,444 - 53,437,845 (+)NCBI
mRatBN7.2X47,677,704 - 49,504,219 (+)NCBI
RefSeq Acc Id: XM_063279794   ⟹   XP_063135864
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,074 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279795   ⟹   XP_063135865
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,070,098 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279796   ⟹   XP_063135866
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,076 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279797   ⟹   XP_063135867
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,072 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279798   ⟹   XP_063135868
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,070,098 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279799   ⟹   XP_063135869
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,074 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279800   ⟹   XP_063135870
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,068 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279801   ⟹   XP_063135871
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X51,205,069 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279802   ⟹   XP_063135872
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X52,301,994 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279803   ⟹   XP_063135873
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X52,971,733 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279804   ⟹   XP_063135874
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X52,971,734 - 53,437,845 (+)NCBI
RefSeq Acc Id: XM_063279805   ⟹   XP_063135875
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X52,971,734 - 53,437,845 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001005244 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357805 (Get FASTA)   NCBI Sequence Viewer  
  NP_036830 (Get FASTA)   NCBI Sequence Viewer  
  XP_008771474 (Get FASTA)   NCBI Sequence Viewer  
  XP_008771475 (Get FASTA)   NCBI Sequence Viewer  
  XP_017457398 (Get FASTA)   NCBI Sequence Viewer  
  XP_038955412 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135864 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135865 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135866 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135867 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135868 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135869 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135870 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135871 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135872 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135873 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135874 (Get FASTA)   NCBI Sequence Viewer  
  XP_063135875 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB22396 (Get FASTA)   NCBI Sequence Viewer  
  AAP92119 (Get FASTA)   NCBI Sequence Viewer  
  AAP92120 (Get FASTA)   NCBI Sequence Viewer  
  AAP92121 (Get FASTA)   NCBI Sequence Viewer  
  AAR83747 (Get FASTA)   NCBI Sequence Viewer  
  AEA76517 (Get FASTA)   NCBI Sequence Viewer  
  AKG49712 (Get FASTA)   NCBI Sequence Viewer  
  CAA30057 (Get FASTA)   NCBI Sequence Viewer  
  CAA46466 (Get FASTA)   NCBI Sequence Viewer  
  CAA49423 (Get FASTA)   NCBI Sequence Viewer  
  EDL96057 (Get FASTA)   NCBI Sequence Viewer  
  EDL96058 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000029969.6
  ENSRNOP00000032859.5
  ENSRNOP00000072441.2
  ENSRNOP00000074105.1
  ENSRNOP00000076354.1
  ENSRNOP00000090095.1
  ENSRNOP00000095060.1
GenBank Protein P11530 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001005244   ⟸   NM_001005244
- Peptide Label: isoform Dp71ab
- UniProtKB: Q7TPH3 (UniProtKB/TrEMBL),   F1LN35 (UniProtKB/TrEMBL),   A0A0G2K2Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_036830   ⟸   NM_012698
- Peptide Label: isoform Dp71a
- UniProtKB: Q7TPH4 (UniProtKB/TrEMBL),   F5CC78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005246   ⟸   NM_001005246
- Peptide Label: isoform Dp71c
- UniProtKB: Q7TPH2 (UniProtKB/TrEMBL),   A0A0F7CRZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008771475   ⟸   XM_008773253
- Peptide Label: isoform X16
- UniProtKB: F5CC78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008771474   ⟸   XM_008773252
- Peptide Label: isoform X15
- UniProtKB: A0A8J8Y3R2 (UniProtKB/TrEMBL),   A0A0G2K2Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017457398   ⟸   XM_017601909
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSRNOP00000029969   ⟸   ENSRNOT00000035692
Ensembl Acc Id: ENSRNOP00000074105   ⟸   ENSRNOT00000091467
Ensembl Acc Id: ENSRNOP00000055159   ⟸   ENSRNOT00000058357
Ensembl Acc Id: ENSRNOP00000032859   ⟸   ENSRNOT00000034372
Ensembl Acc Id: ENSRNOP00000072441   ⟸   ENSRNOT00000081061
RefSeq Acc Id: NP_001357805   ⟸   NM_001370876
- Peptide Label: isoform 1
- UniProtKB: P11530 (UniProtKB/Swiss-Prot),   F1M705 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_038955412   ⟸   XM_039099484
- Peptide Label: isoform X5
Ensembl Acc Id: ENSRNOP00000076354   ⟸   ENSRNOT00000109716
Ensembl Acc Id: ENSRNOP00000090095   ⟸   ENSRNOT00000109261
Ensembl Acc Id: ENSRNOP00000095060   ⟸   ENSRNOT00000094721
RefSeq Acc Id: XP_063135865   ⟸   XM_063279795
- Peptide Label: isoform X2
RefSeq Acc Id: XP_063135868   ⟸   XM_063279798
- Peptide Label: isoform X7
RefSeq Acc Id: XP_063135870   ⟸   XM_063279800
- Peptide Label: isoform X9
RefSeq Acc Id: XP_063135871   ⟸   XM_063279801
- Peptide Label: isoform X10
RefSeq Acc Id: XP_063135867   ⟸   XM_063279797
- Peptide Label: isoform X6
RefSeq Acc Id: XP_063135864   ⟸   XM_063279794
- Peptide Label: isoform X1
RefSeq Acc Id: XP_063135869   ⟸   XM_063279799
- Peptide Label: isoform X8
RefSeq Acc Id: XP_063135866   ⟸   XM_063279796
- Peptide Label: isoform X4
- UniProtKB: A0A8I6GKZ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063135872   ⟸   XM_063279802
- Peptide Label: isoform X11
RefSeq Acc Id: XP_063135873   ⟸   XM_063279803
- Peptide Label: isoform X12
RefSeq Acc Id: XP_063135874   ⟸   XM_063279804
- Peptide Label: isoform X13
RefSeq Acc Id: XP_063135875   ⟸   XM_063279805
- Peptide Label: isoform X14
Protein Domains
Calponin-homology (CH)   WW   ZZ-type

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13701832
Promoter ID:EPDNEW_R12353
Type:initiation region
Name:Dmd_2
Description:dystrophin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_R12355  
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0X51,286,704 - 51,286,764EPDNEW
RGD ID:13701831
Promoter ID:EPDNEW_R12355
Type:multiple initiation site
Name:Dmd_1
Description:dystrophin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_R12353  
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0X53,360,806 - 53,360,866EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2507 AgrOrtholog
BioCyc Gene G2FUF-2357 BioCyc
Ensembl Genes ENSRNOG00000046366 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000034372.7 UniProtKB/TrEMBL
  ENSRNOT00000035692.7 UniProtKB/Swiss-Prot
  ENSRNOT00000081061.2 UniProtKB/TrEMBL
  ENSRNOT00000091467.2 UniProtKB/TrEMBL
  ENSRNOT00000094721.1 UniProtKB/TrEMBL
  ENSRNOT00000109261.1 UniProtKB/TrEMBL
  ENSRNOT00000109716.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.70 UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Actinin_actin-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dystrophin/utrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_dom_typ1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_dom_typ2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCMF1/Dystrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:24907 UniProtKB/TrEMBL
NCBI Gene 24907 ENTREZGENE
PANTHER ALPHA-ACTININ, SARCOMERIC-RELATED UniProtKB/TrEMBL
  DYSTROPHIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE KCMF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN UniProtKB/TrEMBL
Pfam EF-hand_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00397 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00569 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Dmd PhenoGen
PIRSF Dystrophin/utrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACTININ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTININ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_ZZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_ZZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000046366 RatGTEx
SMART SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0F7CRZ7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2K2Z6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5Y4W5_RAT UniProtKB/TrEMBL
  A0A8I6A8M1_RAT UniProtKB/TrEMBL
  A0A8I6GKZ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8J8Y3R2 ENTREZGENE, UniProtKB/TrEMBL
  A6IPV5_RAT UniProtKB/TrEMBL
  DMD_RAT UniProtKB/Swiss-Prot
  F1LN35 ENTREZGENE
  F1M705 ENTREZGENE
  F5CC78 ENTREZGENE, UniProtKB/TrEMBL
  P11530 ENTREZGENE
  Q7TPH2 ENTREZGENE, UniProtKB/TrEMBL
  Q7TPH3 ENTREZGENE, UniProtKB/TrEMBL
  Q7TPH4 ENTREZGENE, UniProtKB/TrEMBL
  Q9Z147_RAT UniProtKB/TrEMBL
  T2F9K4_RAT UniProtKB/TrEMBL
UniProt Secondary F1LN35 UniProtKB/TrEMBL
  F1M705 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2010-02-04 Dmd  dystrophin  Dmd  dystrophin, muscular dystrophy  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-03-30 Dmd  dystrophin, muscular dystrophy    dystrophin  Name updated 1299863 APPROVED
2002-11-06 Dmd  dystrophin    Dystrophin  Name updated 625702 APPROVED
2002-06-10 Dmd  Dystrophin      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease mutations cause Duchenne and Becker muscular dystrophies in rat, mouse and human 1298883
gene_expression expressed in skeletal, cardiac, and smooth muscles 1298883
gene_physical_interaction functions in a muscle sarcolemma membrane-spanning complex that connects cytoskeleton to basal lamina 1298886
gene_process functions in retinal neurotransmission 1300412
gene_transcript splicing produces several transcipts of differing sizes, coding for function and tissue distribution 632228
gene_transcript splicing produces several transcipts of differing sizes, coding for function and tissue distribution 1298885
gene_transcript stimulated during differentiation of myoblasts into multinucleated myotubes 1298883
gene_transcript truncated transcript encodes the dystrophin glycoprotein binding site 1298884