DSC2

Last update 08 May 2025

Basic Info

Synonyms

Cadherin family member 2, CDHF2, desmocollin 2

+ [6]

Introduction

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:33596089). Promotes timely incorporation of DSG2 into desmosome intercellular junctions and promotes interaction of desmosome cell junctions with intermediate filament cytokeratin, via modulation of DSP phosphorylation (PubMed:33596089). Plays an important role in desmosome-mediated maintenance of intestinal epithelial cell intercellular adhesion strength and barrier function (PubMed:33596089). Positively regulates wound healing of intestinal mucosa via promotion of epithelial cell migration, and also plays a role in mechanotransduction of force between intestinal epithelial cells and extracellular matrix (PubMed:31967937). May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. May promote p38MAPK signaling activation that facilitates keratinocyte migration (By similarity).

100 Clinical Results associated with DSC2

100 Translational Medicine associated with DSC2

0 Patents (Medical) associated with DSC2

334

Literatures (Medical) associated with DSC2

01 Dec 2025·Functional & Integrative Genomics

Multi-omic profiling identifies KRT1 as a predictor of immune infiltration and prognosis in gastroesophageal junction cancer

Article

Author: Song, Tongkun ; Xing, Jiadi ; Xing, Pu ; Chen, Bo ; Xu, Kai ; Su, Xiangqian ; Yang, Xinying ; Chen, Jiangbo ; Hao, Hao

Gastroesophageal junction cancer (GEJ) is typically investigated alongside gastric or esophageal cancers. However, separate molecular profiles and immune cell infiltration of GEJ remain largely unknown. This study screened for hub genes in GEJ, studied their function and regulation in biological processes, and investigated their relationship with the infiltration of immune cells into tumors. Datasets were downloaded from The Cancer Genome Atlas and Gene Expression Omnibus public databases. Molecular profiling revealed significant down-regulated expression of key genes in GEJ and enrichment in pathways related to epithelial cell differentiation and development, and structural constituents of skin epidermis. Prognostic analysis showed that patients with low KRT1, Desmocollin 2, and Envoplakin expression had a worse prognosis. There was a strong correlation between the levels of KRT1 and both the tumor mutational burden and immune cell infiltration. Single gene pathway enrichment analysis and in vitro experiments confirmed that cancer cell proliferation, migration, and invasion were suppressed by KRT1 via the AKT/mTOR pathway. In conclusion, this multi-dimensional study analyzed the molecular alterations and oncological mechanisms underlying the progression of GEJ. KRT1 is a promising candidate biomarker for the molecular and immunological characterization of GEJ and for prognosis prediction.

01 May 2025·Annals of Human Genetics

Secondary findings in 443 exome sequencing data

Article

Author: Andrejic, Nikola ; Branković, Marija ; Janković, Milena ; Han, Heonjong ; Virić, Vanja ; Gunjić, Ilija ; Lee, Hane ; Marjanović, Ana ; Palibrk, Aleksa ; Peric, Stojan

AbstractExome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which the patient underwent genetic testing, but are of potential value in patient care.In this study, we evaluated 81 American College of Medical Genetics (ACMG) medically actionable genes in 443 patients with various neurological disorders. The variants identified were classified and reported following the 2015 ACMG Standards and Guidelines for the interpretation of sequence variants and the ACMG recommendations for reporting secondary findings (v3.2).We detected a total of 17 variants in 17 patients across 9 different genes as secondary findings. Seven heterozygous variants were found in BRCA1, MSH2, and PALB2 which are part of the cancer phenotype category. Nine heterozygous variants were found in MYH7, TTN, LDLR, DSC2, and DSP which are part of the cardiovascular phenotype category. Finally, one heterozygous variant was found in TTR which is part of the miscellaneous phenotype category. Thirteen of above mentioned variants were classified as known pathogenic and four as expected pathogenic.The information collected in our study may lead to the prevention of severe morbidity and mortality and provides additional insight into the genetic background of the Serbian population.

01 Mar 2025·Circulation: Arrhythmia and Electrophysiology

Predicted Risk of Ventricular Arrhythmias in a Genome-First Population With Genetic Risk for Arrhythmogenic Right Ventricular Cardiomyopathy

Article

Author: Carruth, Eric D. ; James, Cynthia A. ; Calkins, Hugh ; Young, Katelyn ; Haggerty, Christopher M. ; Murray, Brittney ; Tichnell, Crystal

BACKGROUND:Population genomic screening for desmosome variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) may facilitate early disease detection and protective intervention. The validated ARVC risk calculator offers a novel means to risk stratify individuals with diagnosed ARVC, but predicted risk in the context of genomic screening identification has not been explored.METHODS: Individuals harboring a pathogenic/likely pathogenic variant in a desmosome gene ( PKP2 , DSP , DSG2 , or DSC2 ) were identified through the Geisinger MyCode Genomic Screening and Counseling program. The ARVC risk calculator was applied to patients with a subsequent evaluation of right ventricular function. This predicted risk was compared with outcomes in the first 5 years (range, 0.3–5.0 years) after genetic result return. RESULTS: Of 254 individuals with a clinically confirmed pathogenic/likely pathogenic desmosome variant, 113 (median age, 56 [interquartile range, 42–66]; 71% female) had cardiac imaging in follow-up and no prior sustained ventricular arrhythmia (VA). Eighty-two (73%) had no ARVC task force criteria (TFC) besides the variant (possible diagnosis), 22 (19%) had a single additional minor criterion (borderline diagnosis), and 9 (8%) met criteria for definite diagnosis. The median 5-year predicted VA risk was 3.9% (2.3%–6.6%), notably lower than that of the calculator derivation cohort (20.6%). The risk of fast VA was 1.6% (1.0%–2.9%). The predicted VA risk was higher in individuals with any nongenetic ARVC task force criteria (6.3% [2.5–13.2%]) versus those without (3.7% [2.2–5.6%]; P =0.01), and in individuals with DSP variants (6.1% [3.9–7.8%] versus PKP2 3.4% [2.2–5.3%]; P =0.01). Over a median 3.0 years of follow-up (≤5 years only), no sustained VA events were observed in this cohort. CONCLUSIONS:The predicted 5-year risk of VA in individuals ascertained via population genomic screening for desmosome variants is low (3.9%; 1.6% for fast VA) but may vary by affected gene and ARVC task force criteria burden.

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DSC2

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