Details for: DMD

Gene ID: 1756

Symbol: DMD

Ensembl ID: ENSG00000198947

Description: dystrophin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 427.6280
    Cell Significance Index: -108.4700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 219.0532
    Cell Significance Index: -103.4200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 202.6057
    Cell Significance Index: -82.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 27.4464
    Cell Significance Index: -108.3100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 26.4920
    Cell Significance Index: -57.9800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 21.0094
    Cell Significance Index: 540.0400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 17.6451
    Cell Significance Index: 430.5300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 14.8755
    Cell Significance Index: 177.3300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 14.8576
    Cell Significance Index: 239.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 11.3662
    Cell Significance Index: 872.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 10.8648
    Cell Significance Index: 237.9000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 7.1926
    Cell Significance Index: 453.3300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 7.1222
    Cell Significance Index: 478.9000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 6.8431
    Cell Significance Index: 195.2800
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 6.3238
    Cell Significance Index: 79.6300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 5.0336
    Cell Significance Index: 1805.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 4.6780
    Cell Significance Index: 287.5400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 3.9683
    Cell Significance Index: 95.1700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 3.7482
    Cell Significance Index: 751.8800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 3.0279
    Cell Significance Index: 2094.2200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.7978
    Cell Significance Index: 1269.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2.0998
    Cell Significance Index: 31.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.0938
    Cell Significance Index: 56.1100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.9686
    Cell Significance Index: 390.6700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.6832
    Cell Significance Index: 63.7400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.6205
    Cell Significance Index: 27.7700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.4346
    Cell Significance Index: 9.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.2300
    Cell Significance Index: 54.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.1268
    Cell Significance Index: 1734.6100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.0064
    Cell Significance Index: 1856.0500
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.9143
    Cell Significance Index: 3.9800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7230
    Cell Significance Index: 14.1100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.7112
    Cell Significance Index: 74.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5799
    Cell Significance Index: 523.5800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.4323
    Cell Significance Index: 587.8100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.4183
    Cell Significance Index: 5.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.3772
    Cell Significance Index: 239.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3704
    Cell Significance Index: 697.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3518
    Cell Significance Index: 155.5200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2799
    Cell Significance Index: 27.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1890
    Cell Significance Index: 8.8100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0876
    Cell Significance Index: 14.2500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0587
    Cell Significance Index: 11.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0549
    Cell Significance Index: 2.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0549
    Cell Significance Index: -29.9700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0606
    Cell Significance Index: -0.8700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0729
    Cell Significance Index: -2.5600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0831
    Cell Significance Index: -14.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.1194
    Cell Significance Index: -87.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.1356
    Cell Significance Index: -100.4300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1505
    Cell Significance Index: -113.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1728
    Cell Significance Index: -9.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1861
    Cell Significance Index: -116.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1955
    Cell Significance Index: -5.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.2034
    Cell Significance Index: -114.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2388
    Cell Significance Index: -43.0600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.3137
    Cell Significance Index: -3.8800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3235
    Cell Significance Index: -6.4000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3253
    Cell Significance Index: -93.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.3450
    Cell Significance Index: -37.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4254
    Cell Significance Index: -19.2800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4327
    Cell Significance Index: -26.5300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.4375
    Cell Significance Index: -56.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4502
    Cell Significance Index: -65.4400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.4525
    Cell Significance Index: -53.3600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4658
    Cell Significance Index: -5.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.5207
    Cell Significance Index: -67.2700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.5613
    Cell Significance Index: -118.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.5657
    Cell Significance Index: -69.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.5828
    Cell Significance Index: -80.0300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.5891
    Cell Significance Index: -7.6400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7289
    Cell Significance Index: -18.2200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.7932
    Cell Significance Index: -21.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.8411
    Cell Significance Index: -85.9200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8641
    Cell Significance Index: -28.2900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.8673
    Cell Significance Index: -12.4200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.8799
    Cell Significance Index: -102.5400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.8901
    Cell Significance Index: -61.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.8909
    Cell Significance Index: -102.0700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -1.0091
    Cell Significance Index: -12.9400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.0252
    Cell Significance Index: -32.6500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -1.1177
    Cell Significance Index: -67.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.1979
    Cell Significance Index: -94.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.2149
    Cell Significance Index: -26.3200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.2625
    Cell Significance Index: -26.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -1.3329
    Cell Significance Index: -37.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -1.3411
    Cell Significance Index: -99.9500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -1.4002
    Cell Significance Index: -28.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -1.5010
    Cell Significance Index: -106.1600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.5506
    Cell Significance Index: -80.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.5683
    Cell Significance Index: -101.1800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.6067
    Cell Significance Index: -34.1000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -1.6457
    Cell Significance Index: -23.6700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.7553
    Cell Significance Index: -46.1600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.7639
    Cell Significance Index: -92.6100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.8217
    Cell Significance Index: -94.6300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -1.8664
    Cell Significance Index: -23.1500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -2.0045
    Cell Significance Index: -70.2200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -2.1172
    Cell Significance Index: -24.7000
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -2.2132
    Cell Significance Index: -27.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cytoskeletal protein**: Dystrophin is a cytoskeletal protein that interacts with actin filaments, titin, and other proteins to regulate muscle contraction and cell signaling. 2. **Extracellular matrix binding**: Dystrophin binds to the extracellular matrix, including laminin and collagen, to regulate muscle attachment and contraction. 3. **Actin binding**: Dystrophin interacts with actin filaments to regulate muscle contraction and cell signaling. 4. **Regulation of muscle contraction**: Dystrophin regulates muscle contraction by interacting with other proteins, including titin and myosin, to modulate the force-generating apparatus of muscle cells. 5. **Neurological function**: Dystrophin is also expressed in neurons and plays a role in regulating synaptic signaling and neuronal development. **Pathways and Functions:** 1. **Muscle contraction**: Dystrophin regulates muscle contraction by interacting with actin filaments and other proteins to modulate the force-generating apparatus of muscle cells. 2. **Cell signaling**: Dystrophin interacts with signaling molecules, including growth factors and cytokines, to regulate muscle cell development and function. 3. **Cytoskeleton organization**: Dystrophin regulates cytoskeleton organization by interacting with actin filaments and other cytoskeletal proteins. 4. **Extracellular matrix organization**: Dystrophin regulates extracellular matrix organization by interacting with laminin and collagen to maintain muscle attachment and contraction. 5. **Neurological function**: Dystrophin regulates synaptic signaling and neuronal development in neurons. **Clinical Significance:** 1. **Duchenne muscular dystrophy (DMD)**: Mutations in the DMD gene lead to DMD, a severe and debilitating neuromuscular disorder characterized by progressive muscle degeneration and weakness. 2. **Becker muscular dystrophy (BMD)**: Mutations in the DMD gene also lead to BMD, a milder form of muscular dystrophy characterized by progressive muscle weakness and degeneration. 3. **Muscle wasting**: Dystrophin deficiency leads to muscle wasting and degeneration, which can result in significant morbidity and mortality. 4. **Neurological complications**: Dystrophin deficiency can also lead to neurological complications, including seizures, cognitive impairment, and autonomic dysfunction. 5. **Therapeutic strategies**: The development of gene therapy, immunotherapy, and other therapeutic strategies is underway to treat DMD and BMD, with the goal of improving muscle function and quality of life for affected individuals. In conclusion, dystrophin is a critical protein that plays a vital role in maintaining muscle function and integrity. Mutations in the DMD gene lead to DMD and BMD, two severe and debilitating neuromuscular disorders characterized by progressive muscle degeneration and weakness. Further research is needed to understand the mechanisms underlying dystrophin deficiency and to develop effective therapeutic strategies to treat these devastating diseases.

Genular Protein ID: 2937386683

Symbol: DMD_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3282674

Title: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

PubMed ID: 3282674

DOI: 10.1016/0092-8674(88)90383-2

PubMed ID: 2668885

Title: Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.

PubMed ID: 2668885

DOI: 10.1093/nar/17.13.5391

PubMed ID: 1319059

Title: A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.

PubMed ID: 1319059

DOI: 10.1073/pnas.89.12.5346

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3607877

Title: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

PubMed ID: 3607877

DOI: 10.1016/0092-8674(87)90504-6

PubMed ID: 2648158

Title: Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.

PubMed ID: 2648158

DOI: 10.1038/338509a0

PubMed ID: 3428261

Title: Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.

PubMed ID: 3428261

DOI: 10.1002/j.1460-2075.1987.tb02646.x

PubMed ID: 3205741

Title: Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

PubMed ID: 3205741

DOI: 10.1093/nar/16.23.11141

PubMed ID: 2569720

Title: High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

PubMed ID: 2569720

DOI: 10.1093/nar/17.14.5611

PubMed ID: 8541829

Title: Cloning and characterization of alternatively spliced isoforms of Dp71.

PubMed ID: 8541829

DOI: 10.1093/hmg/4.9.1475

PubMed ID: 2407739

Title: Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.

PubMed ID: 2407739

DOI: 10.1016/s0021-9258(19)39599-7

PubMed ID: 7592992

Title: Identification and characterization of the dystrophin anchoring site on beta-dystroglycan.

PubMed ID: 7592992

DOI: 10.1074/jbc.270.45.27305

PubMed ID: 7844150

Title: Syntrophin binds to an alternatively spliced exon of dystrophin.

PubMed ID: 7844150

DOI: 10.1083/jcb.128.3.363

PubMed ID: 8576247

Title: The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.

PubMed ID: 8576247

DOI: 10.1074/jbc.271.5.2724

PubMed ID: 9370062

Title: A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development.

PubMed ID: 9370062

DOI: 10.1016/s0165-3806(97)00122-3

PubMed ID: 10747910

Title: Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.

PubMed ID: 10747910

DOI: 10.1074/jbc.m000439200

PubMed ID: 10734266

Title: Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain.

PubMed ID: 10734266

DOI: 10.1016/s0960-8966(99)00105-4

PubMed ID: 11495720

Title: The interaction of dystrophin with beta-dystroglycan is regulated by tyrosine phosphorylation.

PubMed ID: 11495720

DOI: 10.1016/s0898-6568(01)00188-7

PubMed ID: 14636778

Title: Dystrophin and mutations: one gene, several proteins, multiple phenotypes.

PubMed ID: 14636778

DOI: 10.1016/s1474-4422(03)00585-4

PubMed ID: 16000376

Title: Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19.

PubMed ID: 16000376

DOI: 10.1091/mbc.e05-02-0112

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16710609

Title: Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue.

PubMed ID: 16710609

DOI: 10.1007/s00018-005-5461-0

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10932245

Title: Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan.

PubMed ID: 10932245

DOI: 10.1038/77923

PubMed ID: 10801490

Title: The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy.

PubMed ID: 10801490

DOI: 10.1016/s0969-2126(00)00132-5

PubMed ID: 7951253

Title: Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.

PubMed ID: 7951253

DOI: 10.1002/humu.1380040102

PubMed ID: 8045556

Title: Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.

PubMed ID: 8045556

DOI: 10.1007/bf00202854

PubMed ID: 8401582

Title: A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.

PubMed ID: 8401582

DOI: 10.1038/ng0893-357

PubMed ID: 7981690

Title: Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.

PubMed ID: 7981690

DOI: 10.1093/hmg/3.7.1173

PubMed ID: 7849724

Title: Novel small mutations along the DMD/BMD gene associated with different phenotypes.

PubMed ID: 7849724

DOI: 10.1093/hmg/3.10.1907

PubMed ID: 8817332

Title: A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.

PubMed ID: 8817332

DOI: 10.1093/hmg/5.7.973

PubMed ID: 9170407

Title: Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

PubMed ID: 9170407

DOI: 10.1161/01.cir.95.10.2434

PubMed ID: 9851445

Title: A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.

PubMed ID: 9851445

DOI: 10.1002/ana.410440619

PubMed ID: 10573008

Title: Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).

PubMed ID: 10573008

DOI: 10.1038/sj.ejhg.5200370

PubMed ID: 12354438

Title: Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.

PubMed ID: 12354438

DOI: 10.1016/s0735-1097(02)02126-5

PubMed ID: 12359139

Title: Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.

PubMed ID: 12359139

DOI: 10.1016/s1096-7192(02)00153-1

PubMed ID: 12632325

Title: Rapid direct sequence analysis of the dystrophin gene.

PubMed ID: 12632325

DOI: 10.1086/374176

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 21396098

Title: Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

PubMed ID: 21396098

DOI: 10.1186/1471-2350-12-37

PubMed ID: 24302611

Title: The ZZ domain of dystrophin in DMD: making sense of missense mutations.

PubMed ID: 24302611

DOI: 10.1002/humu.22479

PubMed ID: 25340340

Title: Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.

PubMed ID: 25340340

DOI: 10.1371/journal.pone.0110439

Sequence Information:

  • Length: 3685
  • Mass: 426778
  • Checksum: 2DBDFB589C7BDC71
  • Sequence:
  • MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KFGKQHIENL FSDLQDGRRL LDLLEGLTGQ 
    KLPKEKGSTR VHALNNVNKA LRVLQNNNVD LVNIGSTDIV DGNHKLTLGL IWNIILHWQV 
    KNVMKNIMAG LQQTNSEKIL LSWVRQSTRN YPQVNVINFT TSWSDGLALN ALIHSHRPDL 
    FDWNSVVCQQ SATQRLEHAF NIARYQLGIE KLLDPEDVDT TYPDKKSILM YITSLFQVLP 
    QQVSIEAIQE VEMLPRPPKV TKEEHFQLHH QMHYSQQITV SLAQGYERTS SPKPRFKSYA 
    YTQAAYVTTS DPTRSPFPSQ HLEAPEDKSF GSSLMESEVN LDRYQTALEE VLSWLLSAED 
    TLQAQGEISN DVEVVKDQFH THEGYMMDLT AHQGRVGNIL QLGSKLIGTG KLSEDEETEV 
    QEQMNLLNSR WECLRVASME KQSNLHRVLM DLQNQKLKEL NDWLTKTEER TRKMEEEPLG 
    PDLEDLKRQV QQHKVLQEDL EQEQVRVNSL THMVVVVDES SGDHATAALE EQLKVLGDRW 
    ANICRWTEDR WVLLQDILLK WQRLTEEQCL FSAWLSEKED AVNKIHTTGF KDQNEMLSSL 
    QKLAVLKADL EKKKQSMGKL YSLKQDLLST LKNKSVTQKT EAWLDNFARC WDNLVQKLEK 
    STAQISQAVT TTQPSLTQTT VMETVTTVTT REQILVKHAQ EELPPPPPQK KRQITVDSEI 
    RKRLDVDITE LHSWITRSEA VLQSPEFAIF RKEGNFSDLK EKVNAIEREK AEKFRKLQDA 
    SRSAQALVEQ MVNEGVNADS IKQASEQLNS RWIEFCQLLS ERLNWLEYQN NIIAFYNQLQ 
    QLEQMTTTAE NWLKIQPTTP SEPTAIKSQL KICKDEVNRL SDLQPQIERL KIQSIALKEK 
    GQGPMFLDAD FVAFTNHFKQ VFSDVQAREK ELQTIFDTLP PMRYQETMSA IRTWVQQSET 
    KLSIPQLSVT DYEIMEQRLG ELQALQSSLQ EQQSGLYYLS TTVKEMSKKA PSEISRKYQS 
    EFEEIEGRWK KLSSQLVEHC QKLEEQMNKL RKIQNHIQTL KKWMAEVDVF LKEEWPALGD 
    SEILKKQLKQ CRLLVSDIQT IQPSLNSVNE GGQKIKNEAE PEFASRLETE LKELNTQWDH 
    MCQQVYARKE ALKGGLEKTV SLQKDLSEMH EWMTQAEEEY LERDFEYKTP DELQKAVEEM 
    KRAKEEAQQK EAKVKLLTES VNSVIAQAPP VAQEALKKEL ETLTTNYQWL CTRLNGKCKT 
    LEEVWACWHE LLSYLEKANK WLNEVEFKLK TTENIPGGAE EISEVLDSLE NLMRHSEDNP 
    NQIRILAQTL TDGGVMDELI NEELETFNSR WRELHEEAVR RQKLLEQSIQ SAQETEKSLH 
    LIQESLTFID KQLAAYIADK VDAAQMPQEA QKIQSDLTSH EISLEEMKKH NQGKEAAQRV 
    LSQIDVAQKK LQDVSMKFRL FQKPANFEQR LQESKMILDE VKMHLPALET KSVEQEVVQS 
    QLNHCVNLYK SLSEVKSEVE MVIKTGRQIV QKKQTENPKE LDERVTALKL HYNELGAKVT 
    ERKQQLEKCL KLSRKMRKEM NVLTEWLAAT DMELTKRSAV EGMPSNLDSE VAWGKATQKE 
    IEKQKVHLKS ITEVGEALKT VLGKKETLVE DKLSLLNSNW IAVTSRAEEW LNLLLEYQKH 
    METFDQNVDH ITKWIIQADT LLDESEKKKP QQKEDVLKRL KAELNDIRPK VDSTRDQAAN 
    LMANRGDHCR KLVEPQISEL NHRFAAISHR IKTGKASIPL KELEQFNSDI QKLLEPLEAE 
    IQQGVNLKEE DFNKDMNEDN EGTVKELLQR GDNLQQRITD ERKREEIKIK QQLLQTKHNA 
    LKDLRSQRRK KALEISHQWY QYKRQADDLL KCLDDIEKKL ASLPEPRDER KIKEIDRELQ 
    KKKEELNAVR RQAEGLSEDG AAMAVEPTQI QLSKRWREIE SKFAQFRRLN FAQIHTVREE 
    TMMVMTEDMP LEISYVPSTY LTEITHVSQA LLEVEQLLNA PDLCAKDFED LFKQEESLKN 
    IKDSLQQSSG RIDIIHSKKT AALQSATPVE RVKLQEALSQ LDFQWEKVNK MYKDRQGRFD 
    RSVEKWRRFH YDIKIFNQWL TEAEQFLRKT QIPENWEHAK YKWYLKELQD GIGQRQTVVR 
    TLNATGEEII QQSSKTDASI LQEKLGSLNL RWQEVCKQLS DRKKRLEEQK NILSEFQRDL 
    NEFVLWLEEA DNIASIPLEP GKEQQLKEKL EQVKLLVEEL PLRQGILKQL NETGGPVLVS 
    APISPEEQDK LENKLKQTNL QWIKVSRALP EKQGEIEAQI KDLGQLEKKL EDLEEQLNHL 
    LLWLSPIRNQ LEIYNQPNQE GPFDVKETEI AVQAKQPDVE EILSKGQHLY KEKPATQPVK 
    RKLEDLSSEW KAVNRLLQEL RAKQPDLAPG LTTIGASPTQ TVTLVTQPVV TKETAISKLE 
    MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL 
    EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK 
    DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA 
    NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK 
    FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ 
    KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW 
    LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG 
    LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ 
    EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR 
    QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP 
    WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC 
    LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN 
    WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD 
    SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR 
    VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC 
    TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS 
    APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN 
    QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP 
    SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP 
    QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM 
    EQLNNSFPSS RGRNTPGKPM REDTM

Genular Protein ID: 1262659839

Symbol: Q4G0X0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 772
  • Mass: 88800
  • Checksum: 33AEE50114531EBA
  • Sequence:
  • MEDEREDVQK KTFTKWVNAQ FSKFGKQHIE NLFSDLQDGR RLLDLLEGLT GQKLPKEKGS 
    TRVHALNNVN KALRVLQNNN VDLVNIGSTD IVDGNHKLTL GLIWNIILHW QVKNVMKNIM 
    AGLQQTNSEK ILLSWVRQST RNYPQVNVIN FTTSWSDGLA LNALIHSHRP DLFDWNSVVC 
    QQSATQRLEH AFNIARYQLG IEKLLDPEDV DTTYPDKKSI LMYITSLFQV LPQQVSIEAI 
    QEVEMLPRPP KVTKEEHFQL HHQMHYSQQI TVSLAQGYER TSSPKPRFKS YAYTQAAYVT 
    TSDPTRSPFP SQHLEAPEDK SFGSSLMESE VNLDRYQTAL EEVLSWLLSA EDTLQAQGEI 
    SNDVEVVKDQ FHTHEGYMMD LTAHQGRVGN ILQLGSKLIG TGKLSEDEET EVQEQMNLLN 
    SRWECLRVAS MEKQSNLHRV LMDLQNQKLK ELNDWLTKTE ERTRKMEEEP LGPDLEDLKR 
    QVQQHKVLQE DLEQEQVRVN SLTHMVVVVD ESSGDHATAA LEEQLKVLGD RWANICRWTE 
    DRWVLLQDIL LKWQRLTEEQ CLFSAWLSEK EDAVNKIHTT GFKDQNEMLS SLQKLAVLKA 
    DLEKKKQSMG KLYSLKQDLL STLKNKSVTQ KTEAWLDNFA RCWDNLVQKL EKSTAQISQA 
    VTTTQPSLTQ TTVMETVTTV TTREQILVKH AQEELPPPPP QKKRQITVDS EIRKRLDVDI 
    TELHSWITRS EAVLQSPEFA IFRKEGNFSD LKEKVNVGYA LIFISVLILC CL

Genular Protein ID: 1747168688

Symbol: Q16484_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1380160

Title: Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues.

PubMed ID: 1380160

DOI: 10.1073/pnas.89.16.7506

Sequence Information:

  • Length: 14
  • Mass: 1662
  • Checksum: 2D5889B6976E28E8
  • Sequence:
  • MREQLKGHET QTTC

Genular Protein ID: 624637552

Symbol: A0A0S2Z3B5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 617
  • Mass: 70375
  • Checksum: 660C9D904AF403B9
  • Sequence:
  • MREQLKGHET QTTCWDHPKM TELYQSLADL NNVRFSAYRT AMKLRRLQKA LCLDLLSLSA 
    ACDALDQHNL KQNDQPMDIL QIINCLTTIY DRLEQEHNNL VNVPLCVDMC LNWLLNVYDT 
    GRTGRIRVLS FKTGIISLCK AHLEDKYRYL FKQVASSTGF CDQRRLGLLL HDSIQIPRQL 
    GEVASFGGSN IEPSVRSCFQ FANNKPEIEA ALFLDWMRLE PQSMVWLPVL HRVAAAETAK 
    HQAKCNICKE CPIIGFRYRS LKHFNYDICQ SCFFSGRVAK GHKMHYPMVE YCTPTTSGED 
    VRDFAKVLKN KFRTKRYFAK HPRMGYLPVQ TVLEGDNMET PVTLINFWPV DSAPASSPQL 
    SHDDTHSRIE HYASRLAEME NSNGSYLNDS ISPNESIDDE HLLIQHYCQS LNQDSPLSQP 
    RSPAQILISL ESEERGELER ILADLEEENR NLQAEYDRLK QQHEHKGLSP LPSPPEMMPT 
    SPQSPRDAEL IAEAKLLRQH KGRLEARMQI LEDHNKQLES QLHRLRQLLE QPQAEAKVNG 
    TTVSSPSTSL QRSDSSQPML LRVVGSQTSD SMGEEDLLSP PQDTSTGLEE VMEQLNNSFP 
    SSRGRNTPGK PMREDTM

Genular Protein ID: 1467643553

Symbol: A7E212_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 1243
  • Mass: 143187
  • Checksum: 5CF301BCA476E93F
  • Sequence:
  • MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL 
    EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK 
    DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA 
    NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK 
    FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ 
    KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW 
    LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG 
    LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLQELQ 
    EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR 
    QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP 
    WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC 
    LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN 
    WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD 
    SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR 
    VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC 
    TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS 
    APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN 
    QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP 
    SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP 
    QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM 
    EQLNNSFPSS RGHNVGSLFH MADDLGRAME SLVSVMTDEE GAE

Genular Protein ID: 2478390617

Symbol: A0A0S2Z3J7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 635
  • Mass: 72191
  • Checksum: 5EB1E49C45CF34EC
  • Sequence:
  • MREQLKGHET QTTCWDHPKM TELYQSLADL NNVRFSAYRT AMKLRRLQKA LCLDLLSLSA 
    ACDALDQHNL KQNDQPMDIL QIINCLTTIY DRLEQEHNNL VNVPLCVDMC LNWLLNVYDT 
    GRTGRIRVLS FKTGIISLCK AHLEDKYRYL FKQVASSTGF CDQRRLGLLL HDSIQIPRQL 
    GEVASFGGSN IEPSVRSCFQ FANNKPEIEA ALFLDWMRLE PQSMVWLPVL HRVAAAETAK 
    HQAKCNICKE CPIIGFRYRS LKHFNYDICQ SCFFSGRVAK GHKMHYPMVE YCTPTTSGED 
    VRDFAKVLKN KFRTKRYFAK HPRMGYLPVQ TVLEGDNMET PVTLINFWPV DSAPASSPQL 
    SHDDTHSRIE HYASRLAEME NSNGSYLNDS ISPNESIDDE HLLIQHYCQS LNQDSPLSQP 
    RSPAQILISL ESEERGELER ILADLEEENR NLQAEYDRLK QQHEHKGLSP LPSPPEMMPT 
    SPQSPRDAEL IAEAKLLRQH KGRLEARMQI LEDHNKQLES QLHRLRQLLE QPQAEAKVNG 
    TTVSSPSTSL QRSDSSQPML LRVVGSQTSD SMGEEDLLSP PQDTSTGLEE VMEQLNNSFP 
    SSRGHNVGSL FHMADDLGRA MESLVSVMTD EEGAE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.