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Gene : DSG3 Homo sapiens

Name  ? desmoglein 3 Cytological Location  18q12.1
Brief Description  desmoglein 3
Description  This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]
  • synonyms:
  • uc002kws.4,
  • PVA,
  • pemphigus vulgaris antigen,
  • CDHF6,
  • DSG3,
  • OTTHUMG00000131985,
  • desmoglein 3 (pemphigus vulgaris antigen),
  • HGNC:3050,
  • NM_001944,
  • CDHF6,
  • M76482
  • identifiers:
  • 1830,
  • ENSG00000134757,
  • DSG3

Genome feature

Region: gene ? Length: 30972  
Location: 18:31447741-31478712 Cyto location: 18q12.1

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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



303 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results