Entity Details

Primary name DSC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ02487
EntryNameDSC2_HUMAN
FullNameDesmocollin-2
TaxID9606
Evidenceevidence at protein level
Length901
SequenceStatuscomplete
DateCreated1994-02-01
DateModified2021-06-02

Ontological Relatives

GenesDSC2

GO terms

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GOName
GO:0001533 cornified envelope
GO:0005509 calcium ion binding
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0009267 cellular response to starvation
GO:0014704 intercalated disc
GO:0016021 integral component of membrane
GO:0030057 desmosome
GO:0031410 cytoplasmic vesicle
GO:0031424 keratinization
GO:0070062 extracellular exosome
GO:0070268 cornification
GO:0086042 cardiac muscle cell-cardiac muscle cell adhesion
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
IPR000233 Cadherin, cytoplasmic domainDomainDomain
IPR002126 Cadherin-likeDomainDomain
IPR009122 Desmosomal cadherinFamilyFamily
IPR014868 Cadherin prodomainDomainDomain
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR020894 Cadherin conserved siteSiteConserved site
IPR027397 Catenin binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610476 OMIMArrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)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.