Details for: DMD

Gene ID: 1756

Symbol: DMD

Ensembl ID: ENSG00000198947

Description: dystrophin

Associated with

Cells (max top 100)

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

  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 7.6
    Marker Score: 256,727
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 7.58
    Marker Score: 134,618
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 7.54
    Marker Score: 18,871
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 6.03
    Marker Score: 1,991
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 5.63
    Marker Score: 3,050
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 5.35
    Marker Score: 119,546
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 5.22
    Marker Score: 17,516
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 4.68
    Marker Score: 1,711
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 4.55
    Marker Score: 5,666
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 4.52
    Marker Score: 3,406
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 3.97
    Marker Score: 5,338
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.91
    Marker Score: 13,904
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 3.87
    Marker Score: 16,116
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.85
    Marker Score: 4,659
  • Cell Name: fat cell (CL0000136)
    Fold Change: 3.66
    Marker Score: 2,044
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.61
    Marker Score: 7,916
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.56
    Marker Score: 5,007
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 3.46
    Marker Score: 8,289
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.31
    Marker Score: 1,592
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.25
    Marker Score: 15,057
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 3.14
    Marker Score: 2,064
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 3.04
    Marker Score: 3,499
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.8
    Marker Score: 55,672
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.77
    Marker Score: 21,249
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.69
    Marker Score: 1,560
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.66
    Marker Score: 101,043
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.65
    Marker Score: 789
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.6
    Marker Score: 1,444
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 2.58
    Marker Score: 1,446
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.53
    Marker Score: 53,940
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.52
    Marker Score: 1,471
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.51
    Marker Score: 37,506
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.5
    Marker Score: 10,362
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.5
    Marker Score: 960
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.48
    Marker Score: 2,363
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.45
    Marker Score: 6,980
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.43
    Marker Score: 768
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.31
    Marker Score: 8,945
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 2.29
    Marker Score: 1,534
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.29
    Marker Score: 84,509
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 2.21
    Marker Score: 7,611
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.21
    Marker Score: 4,243
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.19
    Marker Score: 1,444
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.19
    Marker Score: 20,604
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.18
    Marker Score: 636
  • Cell Name: oocyte (CL0000023)
    Fold Change: 2.18
    Marker Score: 538
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2.09
    Marker Score: 27,753
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127,804
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.03
    Marker Score: 20,960
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.95
    Marker Score: 2,414
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.94
    Marker Score: 4,575
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.93
    Marker Score: 10,385
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.93
    Marker Score: 7,848
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18,304
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.92
    Marker Score: 14,479
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.9
    Marker Score: 1,446
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16,126
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.88
    Marker Score: 1,541
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.86
    Marker Score: 704
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.85
    Marker Score: 3,760
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.81
    Marker Score: 461
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.77
    Marker Score: 934
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.69
    Marker Score: 8,876
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.65
    Marker Score: 6,910
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.64
    Marker Score: 2,532
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.64
    Marker Score: 901
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.61
    Marker Score: 967
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.59
    Marker Score: 25,519
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.57
    Marker Score: 412
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.52
    Marker Score: 460
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.5
    Marker Score: 544
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.49
    Marker Score: 9,580
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167,296
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.46
    Marker Score: 549
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.44
    Marker Score: 14,505
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.44
    Marker Score: 3,300
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.42
    Marker Score: 733
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.41
    Marker Score: 7,591
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.4
    Marker Score: 3,803
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.39
    Marker Score: 700
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.38
    Marker Score: 479
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.38
    Marker Score: 5,958
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.38
    Marker Score: 3,240
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.37
    Marker Score: 663
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.37
    Marker Score: 21,405
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.36
    Marker Score: 6,682
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.35
    Marker Score: 1,173
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.32
    Marker Score: 487
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.31
    Marker Score: 4,290
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.3
    Marker Score: 1,636
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.3
    Marker Score: 617
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.29
    Marker Score: 1,426
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.28
    Marker Score: 763
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.25
    Marker Score: 2,844
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.25
    Marker Score: 10,822
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.23
    Marker Score: 5,135
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.2
    Marker Score: 376
  • Cell Name: glial cell (CL0000125)
    Fold Change: 1.19
    Marker Score: 1,304
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.18
    Marker Score: 1,427
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.18
    Marker Score: 786

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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: 1495602401

Symbol: DMD_HUMAN

Name: Dystrophin

UniProtKB Accession Codes:

P11532 A1L0U9 E7EQR9 E7EQS5 E7ESB2 E9PDN1 E9PDN5 F5GZY3 F8VX32 Q02295 Q14169 Q14170 Q5JYU0 Q6NSJ9 Q7KZ48 Q8N754 Q9UCW3 Q9UCW4

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 11 CDD 6 CTD 1 CarbonylDB 1 ChEBI 4 ChiTaRS 1 ComplexPortal 4 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 100 EPD 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 54 Gene3D 5 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 13 KEGG 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 4 PIR 1 PIRSF 1 PRO 1 PROSITE 7 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 13 Pumba 1 RNAct 1 Reactome 2 RefSeq 17 SAM 1 SASBDB 1 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 5 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 7 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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: 426750
  • Checksum: 24FF7E83F1E6BF8D
  • 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 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 RGRNTPGKPM REDTM

Genular Protein ID: 2478390617

Symbol: A0A0S2Z3J7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3J7

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 ExpressionAtlas 1 GO 1 Gene3D 2 GenomeRNAi 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PROSITE-ProRule 1 Pfam 3 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 2 VEuPathDB 1

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

Genular Protein ID: 1747168688

Symbol: Q16484_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q16484

Database IDs:

BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 Genevisible 1 GenomeRNAi 1 NCBI Taxonomy 1 OrthoDB 1 RefSeq 1

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: 1467643553

Symbol: A7E212_HUMAN

Name: N/A

UniProtKB Accession Codes:

A7E212

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 4 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 3 Gene3D 4 Genevisible 1 GenomeRNAi 1 InterPro 9 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 Pfam 5 PharmGKB 1 RefSeq 1 SAM 2 SMART 3 SMR 1 SUPFAM 4

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: 624637552

Symbol: A0A0S2Z3B5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3B5

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 ExpressionAtlas 1 GO 1 Gene3D 2 GenomeRNAi 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PROSITE-ProRule 1 Pfam 3 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 2 VEuPathDB 1

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: 1262659839

Symbol: Q4G0X0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q4G0X0

Database IDs:

ARBA 2 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 3 CTD 1 ChiTaRS 1 DNASU 1 EMBL 12 EPD 1 Ensembl 2 GO 2 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 5 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 Pfam 2 PharmGKB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 2 SUPFAM 2 UCSC 1 VEuPathDB 1

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

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

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.