Dsg2
entrez
13511
canonical
uniprot
O55111
canonical
ensembl
ENSMUSG00000044393
resolver
ensp
ENSMUSP00000057096
resolver
enst
ENSMUST00000059787
resolver
genesymbol
Dsg2
resolver
uniprot
A2RRJ0
resolver
uniprot
Q8K069
resolver
uniprot
Q8R517
resolver
uniprot_entry
DSG2_MOUSE
resolver
uniprot_sec
A2RRJ0
resolver
uniprot_sec
Q8K069
resolver
uniprot_sec
Q8R517
resolver
amino_acid_sequence
MARSPGDRCALLLLVQLLAVVCLDFGNGLHLEVFSPRNEGKPFPKHTHLVRQKRAWITAPVALREGEDLSRKNPIAKIHSDLAEEKGIKITYKYTGKGITEPPFGIFVFDRNTGELNITSILDREETPYFLLTGYALDSRGNNLEKPLELRIKVLDINDNEPVFTQEVFVGSIEELSAAHTLVMKITATDADDPETLNAKVSYRIVSQEPANSHMFYLNKDTGEIYTTSFTLDREEHSSYSLTVEARDGNGQITDKPVQQAQVQIRILDVNDNIPVVENKMYEGTVEENQVNVEVMRIKVTDADEVGSDNWLANFTFASGNEGGYFHIETDTQTNEGIVTLVKEVDYEEMKKLDLSIIVTNKAAFHKSILSKYKATPIPITVKVKNVVEGIHFKSSVVSFRASEAMDRSSLSRSIGNFQVFDEDTGQAAKVTYVKVQDTDNWVSVDSVTSEIKLVKIPDFESRYVQNGTYTAKVVAISKEHPQKTITGTIVITVEDVNDNCPVLVDSVRSVCEDEPYVNVTAEDLDGAQNSAPFSFSIIDQPPGTAQKWKITHQESTSVLLQQSERKRGRSEIPFLISDSQGFSCPERQVLQLTVCECLKGGGCVAAQYDNYVGLGPAAIALMILALLLLLLVPLLLLICHCGGGAKGFTPIPGTIEMLHPWNNEGAPPEDKVVPSLLVADHAESSAVRGGVGGAMLKEGMMKGSSSASVTKGQHELSEVDGRWEEHRSLLTAGATHHVRTAGTIAANEAVRTRATGSSRDMSGARGAVAVNEEFLRSYFTEKAASYNGEDDLHMAKDCLLVYSQEDTASLRGSVGCCSFIEGELDDLFLDDLGLKFKTLAEVCLGRKIDLDVDIEQRQKPVREASVSAASGSHYEQAVTSSESAYSSNTGFPAPKPLHEVHTEKVTQEIVTESSVSSRQSQKVVPPPDPVASGNIIVTETSYAKGSAVPPSTVLLAPRQPQSLIVTERVYAPTSTLVDQHYANEEKVLVTERVIQPNGGIPKPLEVTQHLKDAQYVMVRERESILAPSSGVQPTLAMPSVAAGGQNVTVTERILTPASTLQSSYQIPSETSITARNTVLSSVGSIGPLPNLDLEESDRPNSTITTSSTRVTKHSTMQHSYS
uniprot
proteins
function
FUNCTION: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Required for proliferation and viability of embryonic stem cells in the blastocyst, thereby crucial for progression of post-implantation embryonic development (PubMed:12494996). Maintains pluripotency by regulating epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via interacting with and sequestering CTNNB1 to sites of cell-cell contact, thereby reducing translocation of CTNNB1 to the nucleus and subsequent transcription of CTNNB1/TCF-target genes (PubMed:29910125). Promotes pluripotency and the multi-lineage differentiation potential of hematopoietic stem cells (By similarity). Plays a role in endothelial cell sprouting and elongation via mediating the junctional-association of cortical actin fibers and CDH5 (PubMed:27338829). Promotes cardiomyocyte cell homeostasis and desmosome junction formation at intercalated disks, as a result plays a role in the maintenance of cardiac conduction and heart chamber integrity (PubMed:19635863, PubMed:26085008, PubMed:36268721). Positively regulates pancreatic islet development and maintenance of endothelial cell barrier integrity in the pancreas, therefore involved in the controlled release of insulin from islet cells into the circulation in response to glucose (PubMed:36309486). Plays a role in limiting inflammatory infiltration and the apoptotic response to injury in kidney tubular epithelial cells, potentially via its role in maintaining cell-cell adhesion and the epithelial barrier (PubMed:38395410). Acts as a positive modulator of CSK and EGFR activation via sequestering them away from lipid rafts, this is independent of its role in desmosome cell junctions (By similarity). Also disrupts the localization of CAV1 to lipid rafts resulting in its distribution throughout the cytoplasm (By similarity). {ECO:0000250|UniProtKB:Q14126, ECO:0000269|PubMed:12494996, ECO:0000269|PubMed:19635863, ECO:0000269|PubMed:26085008, ECO:0000269|PubMed:27338829, ECO:0000269|PubMed:29910125, ECO:0000269|PubMed:36268721, ECO:0000269|PubMed:36309486, ECO:0000269|PubMed:38395410}.
uniprot
proteins
mass_dalton
122385
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="A->W: Abolishes homodimerization and reduces cardiomyocyte intercellular adhesion. Mouse model of arrhythmogenic cardiomyopathy, shows ventricular deformation, fibrotic and calcified cardiac areas, and hypertrophic cardiomyocytes. Intercalated disks are disturbed with widened intercellular spaces and occasional ruptured junctions. Increase in ITGAV/ ITGB6 heterodimers and loss of GJA1 localization at intercalated disks leading to activation of TGF-beta pro-fibrotic signaling pathways. Increases embryonic fatality due to cardiac wall rupture, mice that do survive show progressive heart failure, cardiac fibrosis, and arrhythmias."; /evidence="ECO:0000269|PubMed:36268721"; MUTAGEN 271; /note="N->S: Mouse model of ARVC, mutant shows a dominant-negative effect. Demonstrates postnatal disease onset that is progressive with age and expression of the variant protein. Phenotypically obvious from 2 weeks of age with progressive myocyte cell death resulting in inflammatory response, myocyte calcification and fibrosis. Increase in heart weight to body weight ratio with thinning of both ventricular walls. Abnormal ECGs, initially evident at 2 weeks of age, show arrhythmias and conduction defects which progress to heart failure with increasing age. No abnormalities in desmosome architecture at intercalated disks or localization of other desmosome protein components. Sudden death in 30% of mice by 4 weeks of age and 20% survival rate at 20 weeks of age."; /evidence="ECO:0000269|PubMed:19635863
uniprot
proteins
post_translational_modification
PTM: Cleaved by CASP3 in response to apoptosis which results in a loss of full length DSG2 at cell-cell adhesion junctions and a decrease in intercellular adhesion. {ECO:0000250|UniProtKB:Q14126}.; PTM: N-glycosylated; promotes localization to the plasma membrane and cell-cell adhesion junction strength. {ECO:0000250|UniProtKB:Q14126}.; PTM: Palmitoylated by ZDHHC5 at the plasma membrane. {ECO:0000250|UniProtKB:Q14126}.
uniprot
proteins
pubmed
11222147
uniprot
proteins
pubmed
12494996
uniprot
proteins
pubmed
12787123
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
19635863
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
26085008
uniprot
proteins
pubmed
27338829
uniprot
proteins
pubmed
29910125
uniprot
proteins
pubmed
36268721
uniprot
proteins
pubmed
36309486
uniprot
proteins
pubmed
38395410
uniprot
proteins
pubmed
9404003
uniprot
proteins
pubmed
9864371
uniprot
proteins
sequence_length
1122
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q14126}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q14126}. Cell junction, desmosome {ECO:0000269|PubMed:12494996, ECO:0000269|PubMed:38395410}. Cytoplasm {ECO:0000250|UniProtKB:Q14126}. Note=Localized to intercalated disks in the heart (PubMed:36268721). Localizes to the cytoplasm following cleavage by CASP3 in response to apoptosis (By similarity). Glycosylation promotes localization to the plasma membrane (By similarity). {ECO:0000250|UniProtKB:Q14126, ECO:0000269|PubMed:36268721}.
uniprot
proteins
transmembrane_region
TRANSMEM 619..639; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins