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desmoglein-2; HDGC (DSG2, CDHF5)
Function:
- component of intercellular desmosome junctions
- involved in the interaction of plaque proteins & intermediate filaments mediating cell-cell adhesion
Structure:
- Ca+2 may be bound by the cadherin-like repeats
- contains 4 cadherin domains
Compartment:
- cell membrane; single-pass type 1 membrane protein
- cell junction, desmosome
Expression: all tissues tested including carcinomas
Pathology:
- defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia 10
General
desmoglein (desmosomal glycoprotein)
phosphoprotein
Properties
SIZE: entity length = 1118 aa
MW = 122 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-23}
cadherin domain {50-160}
MOTIF: N-glycosylation site {N112}
cadherin domain {161-273}
MOTIF: N-glycosylation site {N182}
cadherin domain {274-388}
MOTIF: N-glycosylation site {N309}
cadherin domain {389-503}
MOTIF: N-glycosylation site {N462}
N-glycosylation site {N514}
transmembrane domain {610-634}
Ser phosphorylation site {S680}
Desmoglein {881-912}
Desmoglein {913-942}
Desmoglein {943-968}
MOTIF: Tyr phosphorylation site {Y968}
Desmoglein {969-992}
Desmoglein {993-1021}
MOTIF: Tyr phosphorylation site {Y1013}
Desmoglein {1022-1051}
Database Correlations
OMIM correlations
UniProt Q14126
Pfam PF00028
Entrez Gene 1829
Kegg hsa:1829
References
- OMIM :accession 125671
- Entrez Gene :accession 1829
- UniProt :accession Q14126
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DSG2