Property Summary

NCBI Gene PubMed Count 67
PubMed Score 75.66
PubTator Score 91.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (24)

Disease log2 FC p
Rheumatoid Arthritis 2.300 5.5e-04
malignant mesothelioma 1.400 2.5e-05
psoriasis 3.200 7.1e-39
cutaneous lupus erythematosus 2.300 5.4e-03
posterior fossa group A ependymoma 1.600 1.1e-08
periodontitis -1.200 1.9e-17
atypical teratoid / rhabdoid tumor 1.900 2.3e-02
Crohn's disease -1.075 3.8e-02
ulcerative colitis -1.171 1.5e-02
Atopic dermatitis 2.700 8.8e-04
non-small cell lung cancer 1.930 3.7e-11
intraductal papillary-mucinous adenoma (... 2.400 5.4e-04
intraductal papillary-mucinous carcinoma... 2.000 5.2e-03
intraductal papillary-mucinous neoplasm ... 2.000 1.4e-02
lung cancer 2.900 4.0e-05
cystic fibrosis 1.200 1.3e-02
group 4 medulloblastoma 1.700 5.5e-04
pilocytic astrocytoma 1.200 5.4e-06
lung carcinoma -2.900 6.7e-34
spina bifida -2.402 2.4e-02
Breast cancer -1.700 1.8e-05
mucosa-associated lymphoid tissue lympho... 2.320 4.2e-02
ductal carcinoma in situ 1.200 4.3e-03
ovarian cancer 2.500 4.3e-05

 CSPA Cell Line (4)

Gene RIF (37)

PMID Text
26498522 Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression in human umbilical vein endothelial cells.
26310507 Homozygous founder mutation in DSC2 gene identified among Italian arrhythmogenic cardiomyopathy probands, providing evidence of the occurrence of recessive DSC2 mutations presenting with biventricular forms of the disease.
25972099 Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2).
25809865 DSC2 promoter methylation is associated with Breast Cancer.
25576714 Desmocollin-2 mutations are described for dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, as well. Desmocollin-2 mutation was described in a case of arrhythmogenic biventricular cardiomyopathy
25497880 ECG reliably identifies homozygous p.Gln554X desmocollin-2 carriers and may be useful as an initial step in the screening of high-risk Hutterites.
25283360 a novel Nrf2-miR-29-Dsc2 axis controls desmosome function and cutaneous homeostasis
25119898 DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cellcell attachment and cytoskeleton rearrangement
24793512 Case of arrhythmogenic right ventricular cardiomyopathy with a previously unreported desmocollin-2 mutation (c.712_714delGAT). This genetic variant displays autosomal recessive inheritance without the cutaneous manifestations.
24166502 Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling.
24086444 Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with Arrhythmogenic right ventricular Dysplasia/cardiomyopathy, independent of underlying mutations.
23975055 Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases.
23863954 A homozygous truncation mutation, c.1660C>T (p.Q554X) in desmocollin-2 (DSC2) was idnetified in affected individuals and determined a carrier frequency of this mutation of 9.4% among 1535 Schmiedeleut Hutterites.
23836524 results suggest that abnormal activation of beta-catenin contributes to adenomyosis development through the induction of epithelial-mesenchymal transition
22438068 High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas.
22184201 The Dsc2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane.
22014052 DSC2 is a useful immunohistochemical marker for separation of Urothelial carcinoma with squamous differentiation from pure Urothelial carcinoma
21325624 Loss of Desmocollin2 promotes cell proliferation and enables tumor growth in vivo through the activation of Akt/beta-catenin signaling.
21220045 At the molecular level, altered binding properties of the desmocollin-2a mutant may contribute to the changes in connexin43
21062920 Report mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
20864495 Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2.
20621329 Desmocollin 2 is involved in the transformation and development of esophageal tumors and that desmocollin 2 expression level and intracellular localization may serve as a predictor for patient outcomes.
20525856 Observational study of gene-disease association. (HuGE Navigator)
20215590 Observational study of genetic testing. (HuGE Navigator)
20197793 DSC2 gene mutations are not frequently involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
20197793 Observational study of gene-disease association. (HuGE Navigator)
20031617 Observational study of gene-disease association. (HuGE Navigator)
20031616 Mutations in DSG2 and DSC2 are less prevalent than PKP2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypath patients.
20031616 Observational study of gene-disease association. (HuGE Navigator)
19863551 Observational study of genetic testing. (HuGE Navigator)
18957847 mutation associated with autosomal recessive arrhythmogenic right ventricular cardiomyopathy
18819935 Repression of the desmocollin 2 gene expression in human colon cancer cells is relieved by the homeodomain transcription factors Cdx1 and Cdx2.
18678517 Observational study of gene-disease association. (HuGE Navigator)
18632414 Mutations in the desmosome genes were identified in four of the five patients (three with a DSG2 mutation and one with a DSP mutation). Five gene mutations were noted in four patients and all mutations were novel (one patient had a DSG2 double mutation).
17963498 The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations
17186466 DSC2 mutations are a cause of arrhythmogenic right ventricular cardiomyopathy in humans, physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function.
17088906 Loss of Dsc2 protein is associated with colorectal cancer

AA Sequence

MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTAANLIHSSDPD      1 - 70
FQILEDGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVLKKRHTKEKVLRRAKRRWAPI     71 - 140
PCSMLENSLGPFPLFLQQVQSDTAQNYTIYYSIRGPGVDQEPRNLFYVERDTGNLYCTRPVDREQYESFE    141 - 210
IIAFATTPDGYTPELPLPLIIKIEDENDNYPIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRL    211 - 280
KYSIIGQVPPSPTLFSMHPTTGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVND    281 - 350
HLPTFTRTSYVTSVEENTVDVEILRVTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVV    351 - 420
KPLNYEEKQQMILQIGVVNEAPFSREASPRSAMSTATVTVNVEDQDEGPECNPPIQTVRMKENAEVGTTS    421 - 490
NGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTGSIKVFRSLDREAETIKNGIYNITVLASDQGGRTCT    491 - 560
GTLGIILQDVNDNSPFIPKKTVIICKPTMSSAEIVAVDPDEPIHGPPFDFSLESSTSEVQRMWRLKAIND    561 - 630
TAARLSYQNDPPFGSYVVPITVRDRLGMSSVTSLDVTLCDCITENDCTHRVDPRIGGGGVQLGKWAILAI    631 - 700
LLGIALLFCILFTLVCGASGTSKQPKVIPDDLAQQNLIVSNTEAPGDDKVYSANGFTTQTVGASAQGVCG    701 - 770
TVGSGIKNGGQETIEMVKGGHQTSESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKVYL    771 - 840
CNQDENHKHAQDYVLTYNYEGRGSVAGSVGCCSERQEEDGLEFLDNLEPKFRTLAEACMKR             841 - 901
//

Text Mined References (68)

PMID Year Title
26498522 2015 Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression via LOX-1/Ca(2+)/PKC-? signal in human umbilical vein endothelial cells.
26310507 2015 Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
25972099 2015 Desmocollin-2 alone forms functional desmosomal plaques, with the plaque formation requiring the juxtamembrane region and plakophilins.
25809865 2015 Racial variation in breast tumor promoter methylation in the Carolina Breast Cancer Study.
25676813 2015 The ARVD/C genetic variants database: 2014 update.
25576714 2015 Genetic screening for the detection of a rare form of cardiomyopathy in a young patient with recurrent syncopes.
25497880 2014 Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.
25283360 2014 A novel Nrf2-miR-29-desmocollin-2 axis regulates desmosome function in keratinocytes.
25119898 2014 Desmocollin?2 affects the adhesive strength and cytoskeletal arrangement in esophageal squamous cell carcinoma cells.
24793512 2014 Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24166502 2014 Loss of the desmosomal cadherin desmoglein-2 suppresses colon cancer cell proliferation through EGFR signaling.
24086444 2013 Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts.
23975055 2014 The influence of desmocollin 1-3 expression on prognosis after curative resection of colorectal liver metastases.
23897914 2013 A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
23863954 2013 Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
23836524 2013 Down-regulated desmocollin-2 promotes cell aggressiveness through redistributing adherens junctions and activating beta-catenin signalling in oesophageal squamous cell carcinoma.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
22781308 2012 Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
22438068 2012 Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma.
22184201 2011 Desmosomal cadherins utilize distinct kinesins for assembly into desmosomes.
22014052 2011 Desmocollin 2 is a new immunohistochemical marker indicative of squamous differentiation in urothelial carcinoma.
21325624 2011 Loss of desmocollin-2 confers a tumorigenic phenotype to colonic epithelial cells through activation of Akt/?-catenin signaling.
21220045 2011 A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions.
21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
20621329 2010 Reduced membranous and ectopic cytoplasmic expression of DSC2 in esophageal squamous cell carcinoma: an independent prognostic factor.
20525856 2010 Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.
20215590 2010 Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
20197793 2010 The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18957847 2009 Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
18819935 2008 Repression of the desmocollin 2 gene expression in human colon cancer cells is relieved by the homeodomain transcription factors Cdx1 and Cdx2.
18678517 A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
18632414 2008 Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.
17963498 2007 Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
17186466 2006 Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
17088906 2006 Desmocollin switching in colorectal cancer.
17033975 2006 Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
16740002 2006 Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12707304 2003 Defining desmosomal plakophilin-3 interactions.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11870231 2002 Expression of cell adhesion molecules during human preimplantation embryo development.
11853539 2002 Molecular interactions between desmosomal cadherins.
11790773 2002 Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
9810708 1998 Compositionally different desmosomes in the various compartments of the human hair follicle.
9443898 1998 Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion.
9404003 1997 Hierarchical expression of desmosomal cadherins during stratified epithelial morphogenesis in the mouse.
9325054 1997 Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to "classical" cadherins than to desmogleins.
9074502 1997 Cloning and transcriptional analysis of the promoter of the human type 2 desmocollin gene (DSC2).
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8507556 1993 Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia.
8486729 1993 Nomenclature of the desmosomal cadherins.
7959727 1994 Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18.
7929347 1994 cDNA cloning and expression of a novel human desmocollin.
7774948 1995 Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12.
7750520 1995 The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes.
2112455 1990 Early expression of desmosomal components during kidney tubule morphogenesis in human and murine embryos.
2037591 1991 Desmosomal glycoproteins II and III. Cadherin-like junctional molecules generated by alternative splicing.
1889810 1991 Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).