DSC3
Summary: The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| desmocollin 3 | MIM:600271 | Ensembl:ENSG00000134762 | HGNC:HGNC:3037 | PA164741482 | 18q12.1 |
GO terms in DSC3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0001533 | cornified envelope |
| CC | IEA | GO:0005576 | extracellular region |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005911 | cell-cell junction |
| CC | TAS | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0030054 | cell junction |
| CC | IEA | GO:0030057 | desmosome |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | TAS | GO:0007155 | cell adhesion |
| BP | IEA | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules |
| BP | TAS | GO:0031424 | keratinization |
| BP | TAS | GO:0070268 | cornification |
| MF | IEA | GO:0005509 | calcium ion binding |
Gene expression in normal tissue: DSC3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DSC3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-6805567 | Keratinization |
| reactome | R-HSA-6809371 | Formation of the cornified envelope |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DSC3
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