Entity Details

Primary name DSC3
Entity type gene
Source Source Link

Details

PrimaryID1825
RefseqGeneNG_016782
SymbolDSC3
Namedesmocollin 3
Chromosome18
Location18q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-05-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDSC3_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001533 cornified envelope
GO:0001701 in utero embryonic development
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030057 desmosome
GO:0031424 keratinization
GO:0045295 gamma-catenin binding
GO:0050821 protein stabilization
GO:0070268 cornification
GO:0098609 cell-cell adhesion

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613102 OMIMHypotrichosis and recurrent skin vesicles (HRSV)A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. The disease is caused by variants affecting the gene represented in this entry.