DSC2
entrez
1824
canonical
uniprot
Q02487
canonical
ensembl
ENSG00000134755
resolver
ensp
ENSP00000251081
resolver
ensp
ENSP00000280904
resolver
ensp
ENSP00000497441
resolver
ensp
ENSP00000507826
resolver
ensp
ENSP00000518963
resolver
ensp
ENSP00000518984
resolver
ensp
ENSP00000518986
resolver
ensp
ENSP00000518988
resolver
ensp
ENSP00000519012
resolver
ensp
ENSP00000519024
resolver
enst
ENST00000648081
resolver
enst
ENST00000682357
resolver
enst
ENST00000713681
resolver
enst
ENST00000713683
resolver
enst
ENST00000713685
resolver
enst
ENST00000713709
resolver
enst
ENST00000713721
resolver
enst
ENST00000850650
resolver
genesymbol
DSC2
resolver
genesymbol_syn
CDHF2
resolver
genesymbol_syn
DSC3
resolver
hgnc
HGNC:3036
resolver
uniprot
A0A3B3ISU0
resolver
uniprot
A0AAQ5BGT5
resolver
uniprot_entry
A0A3B3ISU0_HUMAN
resolver
uniprot_entry
A0AAQ5BGT5_HUMAN
resolver
uniprot_entry
DSC2_HUMAN
resolver
amino_acid_sequence
MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTAANLIHSSDPDFQILEDGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVLKKRHTKEKVLRRAKRRWAPIPCSMLENSLGPFPLFLQQVQSDTAQNYTIYYSIRGPGVDQEPRNLFYVERDTGNLYCTRPVDREQYESFEIIAFATTPDGYTPELPLPLIIKIEDENDNYPIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRLKYSIIGQVPPSPTLFSMHPTTGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSYVTSVEENTVDVEILRVTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVVKPLNYEEKQQMILQIGVVNEAPFSREASPRSAMSTATVTVNVEDQDEGPECNPPIQTVRMKENAEVGTTSNGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTGSIKVFRSLDREAETIKNGIYNITVLASDQGGRTCTGTLGIILQDVNDNSPFIPKKTVIICKPTMSSAEIVAVDPDEPIHGPPFDFSLESSTSEVQRMWRLKAINDTAARLSYQNDPPFGSYVVPITVRDRLGMSSVTSLDVTLCDCITENDCTHRVDPRIGGGGVQLGKWAILAILLGIALLFCILFTLVCGASGTSKQPKVIPDDLAQQNLIVSNTEAPGDDKVYSANGFTTQTVGASAQGVCGTVGSGIKNGGQETIEMVKGGHQTSESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKVYLCNQDENHKHAQDYVLTYNYEGRGSVAGSVGCCSERQEEDGLEFLDNLEPKFRTLAEACMKR
uniprot
proteins
disease_involvement
DISEASE: Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:17033975, ECO:0000269|PubMed:17963498, ECO:0000269|PubMed:19863551, ECO:0000269|PubMed:21062920, ECO:0000269|PubMed:23863954, ECO:0000269|PubMed:24793512, ECO:0000269|PubMed:26310507, ECO:0000269|PubMed:28256248, ECO:0000269|PubMed:33784018, ECO:0000269|PubMed:36768812}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P55292, ECO:0000269|PubMed:31967937, ECO:0000269|PubMed:33596089}.
uniprot
proteins
mass_dalton
99962
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16740002
uniprot
proteins
pubmed
17033975
uniprot
proteins
pubmed
17963498
uniprot
proteins
pubmed
18678517
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19863551
uniprot
proteins
pubmed
20031617
uniprot
proteins
pubmed
2037591
uniprot
proteins
pubmed
21062920
uniprot
proteins
pubmed
23863954
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24793512
uniprot
proteins
pubmed
25208567
uniprot
proteins
pubmed
26310507
uniprot
proteins
pubmed
28256248
uniprot
proteins
pubmed
31835537
uniprot
proteins
pubmed
31967937
uniprot
proteins
pubmed
33596089
uniprot
proteins
pubmed
33784018
uniprot
proteins
pubmed
36768812
uniprot
proteins
sequence_length
901
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17963498, ECO:0000269|PubMed:21062920, ECO:0000269|PubMed:23863954}; Single-pass type I membrane protein {ECO:0000269|PubMed:21062920}. Cell junction, desmosome {ECO:0000269|PubMed:17963498, ECO:0000269|PubMed:21062920, ECO:0000269|PubMed:25208567}.
uniprot
proteins
transmembrane_region
TRANSMEM 695..715; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins