Affinage

DSC2

Desmocollin-2 · UniProt Q02487

Round 2 corrected
Length
901 aa
Mass
100.0 kDa
Annotated
2026-04-28
56 papers in source corpus 18 papers cited in narrative 19 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DSC2 encodes desmocollin-2, the most ubiquitously expressed desmosomal cadherin, which forms obligate heterophilic adhesive dimers with desmogleins through a strand-swap mechanism in which conserved charged residues in the ectodomain suppress homophilic Dsc:Dsc binding and promote heterophilic Dsg:Dsc assembly, establishing the fundamental adhesive unit of desmosomes (PMID:27298358, PMID:7750520). DSC2 anchors to the desmosomal plaque through direct interactions of its cytoplasmic tail with plakophilin-2 and plakophilin-3, which are mediated by the head domains of these armadillo-repeat proteins (PMID:11790773, PMID:12707304). Truncating and splice-site mutations in DSC2 cause arrhythmogenic cardiomyopathy by reducing membrane-localized protein, disrupting intercalated disc ultrastructure, and impairing cardiomyocyte calcium handling, while cardiac-specific overexpression likewise causes biventricular cardiomyopathy with necrosis and fibrosis, demonstrating that precise DSC2 dosage is essential for intercalated disc homeostasis (PMID:17033975, PMID:17186466, PMID:32201174, PMID:28339476). In epithelial cancers, DSC2 suppresses invasion by sequestering γ-catenin from the nucleus to modulate PTEN/PI3K/AKT and apoptotic signaling (PMID:37421607, PMID:33204158).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1994 High

    Establishing DSC2 as a cadherin-family desmosomal adhesion molecule with two alternatively spliced isoforms resolved the gene's domain architecture and set the stage for understanding its role in intercellular adhesion.

    Evidence cDNA cloning, sequencing, Northern blot, and in situ hybridization in mouse tissues and embryos

    PMID:7711832

    Open questions at the time
    • Protein-level confirmation of isoform expression not yet performed
    • Functional difference between Dsc2a and Dsc2b isoforms unknown
  2. 1995 High

    Demonstrating that DSC2 is the only desmocollin expressed in all desmosome-bearing tissues (including myocardium) explained why it would later prove non-redundant in the heart.

    Evidence Northern blot and RNase protection assays across diverse human tissues and cell lines

    PMID:7750520

    Open questions at the time
    • Protein-level quantification across tissues not performed
    • Functional consequence of ubiquitous expression versus tissue-restricted DSC1/DSC3 not tested
  3. 1997 High

    Mapping the DSC2 gene structure and defining its minimal promoter established the regulatory framework for its ubiquitous epithelial expression, revealing CpG-island-driven, TATA-less transcription with AP-2 and Sp-1 sites.

    Evidence Exon-intron mapping by PCR/Southern blot, promoter deletion analysis in transfected epithelial cells

    PMID:9074502 PMID:9325054

    Open questions at the time
    • In vivo promoter regulation and chromatin context not examined
    • Transcription factors driving cardiac-specific expression not identified
  4. 2002 High

    Identifying plakophilin-2 and subsequently plakophilin-3 as direct binding partners of DSC2a defined the molecular links connecting the desmosomal cadherin to the intracellular plaque.

    Evidence Yeast two-hybrid, co-immunoprecipitation, and colocalization immunofluorescence in multiple cell types

    PMID:11790773 PMID:12707304

    Open questions at the time
    • Binding affinities and stoichiometry not quantified
    • Whether Dsc2b binds PKP2/PKP3 equivalently is untested
    • Structural basis of the DSC2–plakophilin interaction unknown
  5. 2006 High

    The discovery that DSC2 truncation and splice-site mutations cause arrhythmogenic right ventricular cardiomyopathy (ARVC) established DSC2 as a disease gene and proved desmosomal adhesion is essential for cardiac integrity.

    Evidence Sequencing of ARVC probands identifying heterozygous frameshift mutations; zebrafish dsc2 morpholino knockdown showing reduced desmosomal plaque area and contractility defects by electron microscopy

    PMID:17033975 PMID:17186466

    Open questions at the time
    • Molecular mechanism linking desmosome disruption to arrhythmogenesis not defined
    • Haploinsufficiency versus dominant-negative mechanism not distinguished
  6. 2013 High

    Characterization of a homozygous DSC2 truncation in patient tissue and recombinant cells showed that the processed DSC2 protein, not merely transcript presence, is required at the intercalated disc for desmosome integrity.

    Evidence Immunohistochemistry of endomyocardial biopsies, recombinant protein expression and subcellular localization in cultured cells

    PMID:23863954

    Open questions at the time
    • Whether the truncated protein exerts a dominant-negative effect or is simply non-functional unclear
    • Desmosome assembly kinetics not measured
  7. 2016 High

    Crystal structures of DSC2 ectodomains revealed that conserved charged residues enforce heterophilic Dsg:Dsc strand-swap dimerization while preventing Dsc:Dsc homodimerization, solving a long-standing question about desmosomal adhesion specificity.

    Evidence X-ray crystallography of Dsc1 and Dsc2 ectodomains, analytical ultracentrifugation, coated-bead aggregation assays

    PMID:27298358

    Open questions at the time
    • Full-length Dsg:Dsc heterodimer structure not solved
    • How cis- versus trans-interactions are coordinated in the intact desmosome remains unclear
  8. 2017 High

    Cardiac-specific DSC2 overexpression in mice caused biventricular cardiomyopathy with necrosis and fibrosis, proving that DSC2 protein dosage—not just loss—is critical for intercalated disc homeostasis.

    Evidence Transgenic mouse model with echocardiography, histology, immunohistochemistry, and gene expression profiling

    PMID:28339476

    Open questions at the time
    • Mechanism by which excess DSC2 triggers necrosis and inflammation not identified
    • Whether overexpression disrupts Dsg:Dsc stoichiometry directly was not tested
  9. 2019 Medium

    A DSC2 G790del knock-in mouse demonstrated that specific mutations impair cardiomyocyte calcium handling (prolonged Ca²⁺ transients, increased spontaneous Ca²⁺ events) without causing overt ARVC structural remodeling, revealing mutation-specific pathomechanisms.

    Evidence Knock-in mouse, echocardiography, isolated cardiomyocyte Ca²⁺ transient measurements with isoproterenol challenge

    PMID:31872082

    Open questions at the time
    • Mechanism linking DSC2 mutation to altered Ca²⁺ handling not elucidated
    • Long-term arrhythmia susceptibility in these mice not assessed
    • Single mutation studied; generalizability to other missense variants unknown
  10. 2020 High

    iPSC-derived cardiomyocyte and ultrastructural studies of a homozygous DSC2 deletion demonstrated that truncated DSC2 protein is secreted rather than membrane-localized, causing intercalated disc widening and confirming that membrane targeting is essential for function.

    Evidence iPSC-CM differentiation, Western blot, immunohistochemistry, transmission electron microscopy of explanted myocardium

    PMID:32201174

    Open questions at the time
    • Whether secreted truncated DSC2 has any extracellular signaling effect is unknown
    • Rescue experiments restoring wild-type DSC2 in patient iPSC-CMs not performed
  11. 2021 Medium

    Patient iPSC-CM electrophysiology revealed that a DSC2 missense mutation shortens action potential duration via reduced Ca²⁺ current and increased K⁺ current, and that flecainide and sotalol can partially normalize these defects, establishing a myogenic origin of ACM-related electrical instability.

    Evidence Patch-clamp electrophysiology, Ca²⁺ imaging, and antiarrhythmic drug testing in patient-derived iPSC-CMs; zebrafish dsc2 morpholino model

    PMID:33784018

    Open questions at the time
    • Direct molecular link between DSC2 and ion channel remodeling not identified
    • Findings from single patient line; replication in additional mutation carriers needed
  12. 2023 Medium

    In cancer contexts, DSC2 was shown to suppress tumor cell viability by binding γ-catenin and preventing its nuclear translocation, thereby modulating PTEN/PI3K/AKT signaling and promoting apoptosis, extending DSC2 function beyond structural adhesion.

    Evidence Co-immunoprecipitation, immunofluorescence, Western blot, PI3K inhibitor/activator experiments, and mouse xenograft in gastric cancer cells

    PMID:33204158 PMID:37421607

    Open questions at the time
    • Whether γ-catenin sequestration is a direct stoichiometric effect or involves additional intermediates is unresolved
    • Relevance of this signaling axis in non-cancer, non-cardiac tissues not examined
    • Retracted BRD4-related finding (PMID:36120591) leaves the nuclear BRD4 mechanism unconfirmed

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis of DSC2 interactions with plakophilins and plakoglobin, the direct molecular mechanism linking DSC2 dysfunction to ion channel remodeling and calcium mishandling in cardiomyocytes, and whether the two DSC2 splice isoforms have distinct functional roles.
  • No high-resolution structure of DSC2 cytoplasmic domain in complex with plaque proteins
  • Mechanism coupling desmosome disruption to ion channel/Ca²⁺ handling changes undefined
  • Functional distinction between Dsc2a and Dsc2b isoforms never tested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0098631 cell adhesion mediator activity 3
Localization
GO:0005886 plasma membrane 4
Pathway
R-HSA-1643685 Disease 4 R-HSA-1500931 Cell-Cell communication 3 R-HSA-162582 Signal Transduction 2
Partners
DSG1DSG2DSPJUPPKP2PKP3
Complex memberships
desmosome

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 DSC2 is the most widespread desmocollin subtype, expressed ubiquitously in all desmosome-bearing tissues including epithelial cells, myocardiac cells, and lymph nodes; both splice forms (Dsc2a and Dsc2b) are present in all tissues examined, whereas DSC1 and DSC3 are restricted to certain stratified squamous epithelia. Northern blot analysis, RNase protection assays European journal of cell biology High 7750520
1994 Mouse DSC2 encodes a cadherin-like adhesion molecule with a signal peptide, extracellular domain, single transmembrane domain, and cytoplasmic domain; it produces two isoforms (Dsc2a and Dsc2b) by alternative splicing of a 46 bp exon encoding 11 C-terminal amino acids; DSC2 is ubiquitously expressed from the blastocyst stage and is most strongly expressed suprabasally in stratified epithelia. cDNA cloning, sequencing, in situ hybridization, Northern blot Molecular membrane biology High 7711832
1997 The human DSC2 gene spans >32 kb, consists of 17 exons (46–258 bp), with exon 16 alternatively spliced to produce the a and b protein isoforms; its exon-intron organization is more similar to classical cadherins than to desmogleins, especially in the cytoplasmic domain. PCR-based exon-intron mapping, Southern blotting, DNA sequencing Genomics High 9325054
1997 The DSC2 promoter contains a CpG island, a major transcription initiation site 201 bp upstream of the translation start, no CCAAT or TATA boxes, and consensus binding sites for AP-2 and Sp-1; a 525 bp minimal promoter is active in epithelial cells and mouse blastocysts but shows reduced activity in non-epithelial cells. RNase protection, primer extension, deletion analysis in cell transfections, Southern blotting Gene High 9074502
2002 Plakophilin 2 directly interacts with desmocollin 2a (DSC2a) as demonstrated by co-immunoprecipitation and yeast two-hybrid assays; the head domain of plakophilin 2 mediates this interaction and is sufficient to direct plakophilin 2 to cell borders. Co-immunoprecipitation, yeast two-hybrid The Journal of biological chemistry High 11790773
2003 Plakophilin 3 (PKP3) binds desmocollin 2a (Dsc2a) as shown by yeast two-hybrid, co-immunoprecipitation, and colocalization experiments; this is coupled with interactions with desmogleins, plakoglobin, desmoplakin, and keratin 18 to form the desmosomal plaque. Yeast two-hybrid, co-immunoprecipitation, colocalization immunofluorescence The Journal of cell biology High 12707304
2006 Heterozygous DSC2 mutations (frameshift/truncation) cause arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); first identification of DSC2 as an ARVD/C gene, consistent with ARVD/C being a disease of the desmosome. DNA sequencing of 77 ARVD/C probands; identification of two heterozygous frameshift mutations American journal of human genetics High 17033975
2006 A heterozygous splice-acceptor-site mutation in DSC2 intron 5 (c.631-2A→G) causes use of a cryptic splice site and premature termination codon, markedly reducing mutant transcript abundance; morpholino knockdown of dsc2 in zebrafish embryos causes reduced desmosomal plaque area, loss of extracellular electron-dense midlines, and myocardial contractility defects, establishing that physiologic DSC2 levels are required for normal cardiac desmosome formation and function. DNA sequencing, quantitative cardiac DSC2 expression analysis, morpholino knockdown in zebrafish with electron microscopy and cardiac function assay American journal of human genetics High 17186466
2016 DSC2 (and all Dscs) form heterophilic adhesive dimers exclusively with desmogleins (Dsgs) through a strand-swap mechanism; conserved charged amino acids in Dscs inhibit Dsc:Dsc homophilic interactions via same-charge repulsion and promote Dsg:Dsc heterophilic interactions via opposite-charge attraction; crystal structures of Dsc1 and Dsc2 ectodomains reveal the structural basis of this specificity; Dsg:Dsc heterodimers are the fundamental adhesive unit of desmosomes. X-ray crystallography of Dsc1 and Dsc2 ectodomains, solution biophysics (AUC/SEC), coated-bead aggregation assays Proceedings of the National Academy of Sciences of the United States of America High 27298358
2013 A homozygous truncation mutation in DSC2 (c.1660C>T, p.Q554X) causes early-onset biventricular arrhythmogenic cardiomyopathy restricted to the heart; the truncated DSC2 protein remains partially stable and localizes at intercalated discs with only minor changes in other desmosomal protein immunoreactivity, indicating the processed DSC2 protein is required for desmosome integrity. Genetic sequencing, immunohistochemistry of endomyocardial biopsies, recombinant protein expression in cells with subcellular localization analysis, carrier frequency determination in population Circulation. Cardiovascular genetics High 23863954
2017 Cardiac-specific overexpression of DSC2 in transgenic mice induces necrosis, acute inflammation, and patchy fibrotic remodeling leading to biventricular cardiomyopathy, with early up-regulation of inflammatory and fibrotic remodeling pathways; endogenous desmosomal protein expression is markedly reduced in fibrotic areas, demonstrating that DSC2 protein dosage is critical for maintaining intercalated disc homeostasis. Transgenic mouse generation, 2D-echocardiography, histology, immunohistochemistry, gene expression profiling PloS one High 28339476
2020 A homozygous 4-bp DSC2 deletion (c.1913_1916delAGAA) caused by uniparental isodisomy leads to substantially decreased DSC2 mRNA (via nonsense-mediated decay), absence of full-length DSC2 protein, and abnormal secretion of the truncated protein rather than membrane localization; in iPSC-derived cardiomyocytes, mutant truncated DSC2 is absent from the plasma membrane; transmission electron microscopy of explanted myocardium shows widening of the intercalated disc. Whole exome sequencing, comparative genomic hybridization, qRT-PCR, Western blot, immunohistochemistry, transmission electron microscopy, iPSC-derived cardiomyocyte transfection, immunoprecipitation with fluorescence and Western blot Journal of molecular and cellular cardiology High 32201174
2021 DSC2 high expression in cancer cells facilitates cluster formation under fluid shear stress in circulation, activates the PI3K/AKT/Bcl-2 pathway to increase cell survival, and maintains high vimentin expression that stimulates fibronectin/integrin β1/FAK/Src/MEK/ERK/ZEB1-mediated metastasis; shear-stress-resistant cancer cells express 4.2–5.3-fold more DSC2 and PKP1. Microfluidic circulatory system selection of SS-resistant cells, shRNA knockdown, overexpression, Western blot, in vivo mouse metastasis assay, pathway inhibitor experiments Science advances Medium 34586853
2019 The G790del mutation in DSC2 in homozygous mice leads to slight left ventricular dysfunction with decreased cell shortening, prolonged intracellular Ca2+ transients, and increased spontaneous Ca2+ transients in response to isoproterenol, but does not cause ARVC structural defects or lethal arrhythmia, indicating mutation-specific pathomechanism. Knock-in mouse model (heterozygous and homozygous), echocardiography, isolated cardiomyocyte Ca2+ transient measurements, isoproterenol challenge Biochemistry and biophysics reports Medium 31872082
2021 In iPSC-derived cardiomyocytes from a DSC2 missense mutation (c.394C>T) patient, a shortened action potential duration was associated with reduced Ca2+ current density, increased K+ current density, decreased Ca2+ transient amplitude, and increased Ca2+ spark frequency; flecainide normalized Ca2+ transients and decreased Ca2+ sparks; sotalol lengthened the action potential and normalized contractile properties, revealing a myogenic origin of ACM electrical instability. iPSC-CM differentiation from patient cells, patch-clamp electrophysiology, Ca2+ imaging, antiarrhythmic drug testing, zebrafish DSC2 morpholino model Clinical and translational medicine Medium 33784018
2020 DSC2 inhibition in prostate cancer cells (LNCaP, PC-3) promotes proliferation, migration, invasion, and suppresses apoptosis, associated with upregulation of p-β-catenin and EGFR and downregulation of E-cadherin; DSC2 overexpression exerts the opposite effects, indicating DSC2 regulates the E-cadherin/β-catenin pathway. siRNA knockdown and overexpression transfection, Western blot, CCK-8 assay, clone formation, wound healing, Transwell assay, flow cytometry Cancer management and research Medium 33204158
2022 DSC2 inhibits gastric cancer cell invasion and migration by forming a DSC2/BRD4 complex that decreases nuclear BRD4 levels and Snail expression, and also inhibits nuclear translocation of β-catenin; these dual mechanisms suppress epithelial-mesenchymal transition. Co-immunoprecipitation (DSC2/BRD4 complex), Western blot, qRT-PCR, xenograft mouse metastasis model, GC cell lines with DSC2 modulation Oxidative medicine and cellular longevity Low 36120591
2023 DSC2 inhibits gastric cancer cell viability in vitro and in vivo by binding γ-catenin to reduce its nuclear translocation, thereby downregulating BCL-2 and upregulating P53 to promote apoptosis; this mechanism also modulates the PTEN/PI3K/AKT signaling pathway. Co-immunoprecipitation, immunofluorescence, Western blot, MTT assay, Caspase-3 activity assay, mouse xenograft, PI3K inhibitor (LY294002) and activator (IGF1) pretreatment experiments Aging Medium 37421607
2024 Streptococcus salivarius AGIRA0003 decreases DSC2 protein levels in duodenal spheroid monolayers, disrupting epithelial barrier function; DSC2 protein is also decreased in duodenal biopsies from functional dyspepsia patients with IgG antibodies against the bacterium, indicating DSC2 contributes to barrier integrity in the gut epithelium. Bacterial exposure of polarized Caco-2 cells and duodenal spheroids, Western blot quantification of DSC2 protein, immunoblotting of patient biopsies bioRxivpreprint Low

Source papers

Stage 0 corpus · 56 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 1945 23788249
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
2008 Large-scale proteomics and phosphoproteomics of urinary exosomes. Journal of the American Society of Nephrology : JASN 607 19056867
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell 433 26638075
1996 Normalization and subtraction: two approaches to facilitate gene discovery. Genome research 401 8889548
2005 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. Journal of proteome research 350 16335952
2021 A proximity-dependent biotinylation map of a human cell. Nature 339 34079125
2006 Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. American journal of human genetics 285 17033975
1993 Nomenclature of the desmosomal cadherins. The Journal of cell biology 268 8486729
2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Journal of proteome research 237 19199708
2018 An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Nature communications 201 29568061
2002 Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. The Journal of biological chemistry 198 11790773
2006 Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. American journal of human genetics 196 17186466
2006 Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. Journal of proteome research 173 16740002
2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. Cardiovascular genetics 171 20031617
2010 Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. Heart (British Cardiac Society) 161 20525856
2016 Structural basis of adhesive binding by desmocollins and desmogleins. Proceedings of the National Academy of Sciences of the United States of America 150 27298358
2009 Ubiquitin-mediated proteolysis of HuR by heat shock. The EMBO journal 142 19322201
2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 138 23533145
2003 Defining desmosomal plakophilin-3 interactions. The Journal of cell biology 138 12707304
2019 Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms. Nature cell biology 137 31871319
2018 Interactome Rewiring Following Pharmacological Targeting of BET Bromodomains. Molecular cell 136 30554943
2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Proceedings of the National Academy of Sciences of the United States of America 135 10737800
2019 The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Molecular cell 124 30639242
1995 The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes. European journal of cell biology 117 7750520
2005 Epigenetic silencing of DSC3 is a common event in human breast cancer. Breast cancer research : BCR 93 16168112
2017 Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling. PloS one 61 28339476
2009 A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. American journal of human genetics 61 19765682
2013 Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circulation. Cardiovascular genetics 53 23863954
2021 Desmosomal proteins of DSC2 and PKP1 promote cancer cells survival and metastasis by increasing cluster formation in circulatory system. Science advances 43 34586853
2010 Search for transmembrane protein in gastric cancer by the Escherichia coli ampicillin secretion trap: expression of DSC2 in gastric cancer with intestinal phenotype. The Journal of pathology 43 20527021
1994 Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18. Genomics 35 7959727
1994 Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule. Molecular membrane biology 32 7711832
2012 X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Human molecular genetics 31 23184149
1995 Characterisation of a desmocollin isoform (bovine DSC3) exclusively expressed in lower layers of stratified epithelia. Journal of cell science 30 7673337
2020 A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. Journal of molecular and cellular cardiology 28 32201174
1997 Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to "classical" cadherins than to desmogleins. Genomics 28 9325054
2021 Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. Clinical and translational medicine 26 33784018
1997 Cloning and transcriptional analysis of the promoter of the human type 2 desmocollin gene (DSC2). Gene 25 9074502
2021 Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation. Orphanet journal of rare diseases 15 34819141
2025 Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation 13 40123482
2019 Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete. Journal of electrocardiology 12 30716529
2019 G790del mutation in DSC2 alone is insufficient to develop the pathogenesis of ARVC in a mouse model. Biochemistry and biophysics reports 12 31872082
2020 Regulating DSC2 Expression Affects the Proliferation and Apoptosis of Prostate Cancer Cells. Cancer management and research 11 33204158
2000 Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. Biochemical and biophysical research communications 8 11027496
2023 DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of γ-catenin and PTEN/PI3K/AKT signaling pathway. Aging 7 37421607
2024 Unveiling the glycolysis in sepsis: Integrated bioinformatics and machine learning analysis identifies crucial roles for IER3, DSC2, and PPARG in disease pathogenesis. Medicine 3 39331858
2022 DSC2 Suppresses the Metastasis of Gastric Cancer through Inhibiting the BRD4/Snail Signaling Pathway and the Transcriptional Activity of β-Catenin. Oxidative medicine and cellular longevity 3 36120591
2025 Identification of DSC2 as a Key Biomarker for Induction Chemotherapy Sensitivity in Locally Advanced Laryngeal and Hypopharyngeal Squamous Cell Carcinoma. Journal of chemical information and modeling 0 40489222
2023 Retracted: DSC2 Suppresses the Metastasis of Gastric Cancer through Inhibiting the BRD4/Snail Signaling Pathway and the Transcriptional Activity of β-Catenin. Oxidative medicine and cellular longevity 0 37565159