Entity Details

Primary name DSG2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14126
EntryNameDSG2_HUMAN
FullNameDesmoglein-2
TaxID9606
Evidenceevidence at protein level
Length1118
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesDSG2

GO terms

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GOName
GO:0001533 cornified envelope
GO:0002934 desmosome organization
GO:0003165 Purkinje myocyte development
GO:0005509 calcium ion binding
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0009986 cell surface
GO:0014704 intercalated disc
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0030057 desmosome
GO:0031424 keratinization
GO:0032570 response to progesterone
GO:0043231 intracellular membrane-bounded organelle
GO:0050839 cell adhesion molecule binding
GO:0060135 maternal process involved in female pregnancy
GO:0070062 extracellular exosome
GO:0070268 cornification
GO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication
GO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
GO:0086091 regulation of heart rate by cardiac conduction
GO:0098609 cell-cell adhesion
GO:0098911 regulation of ventricular cardiac muscle cell action potential

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane

Domains

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DomainNameCategoryType
IPR002126 Cadherin-likeDomainDomain
IPR009122 Desmosomal cadherinFamilyFamily
IPR009123 DesmogleinFamilyFamily
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR020894 Cadherin conserved siteSiteConserved site
IPR027397 Catenin binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610193 OMIMArrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)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. The disease is caused by variants affecting the gene represented in this entry.
612877 OMIMCardiomyopathy, dilated 1BB (CMD1BB)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Disease susceptibility is associated with variants affecting the gene represented in this entry.