Property Summary

NCBI Gene PubMed Count 67
Grant Count 24
R01 Count 20
Funding $1,875,401.6
PubMed Score 75.66
PubTator Score 91.32

Knowledge Summary

Patent

No data available

Expression

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.
More...

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.
More...