| Desmocollin 2 | OKDB#: 2902 |
| Symbols: | DSC2 | Species: | human | ||
| Synonyms: | DG2, DSC3, CDHF2, DGII/III, DKFZp686I11137,DESMOCOLLIN 3, FORMERLY, DSC3, FORMERLY|DESMOSOMAL GLYCOPROTEIN II/III, DG2/3, DG2 | Locus: | 18q12.1 in Homo sapiens |
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| General Comment | NCBI 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. Alternative splicing results in two transcript variants encoding distinct isoforms. | ||||
| General function | Cell adhesion molecule | ||||
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| Cellular localization | Plasma membrane | ||||
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| Ovarian function | Cumulus expansion | ||||
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| Comment | Multiple signalling defects in the absence of RIP140 impair both cumulus expansion and follicle rupture Tullet JM, et al . Desmocollin 2 was increased in the KO mice. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Aug. 18, 2005, 10:07 a.m. | by: |
hsueh email:
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| last update: | Aug. 18, 2005, 10:07 a.m. | by: | system email: |
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