• Gene id: 1830

Gene Summary

• Gene Symbol: DSG3   Gene   UCSC   Ensembl
• Aliases: CDHF6, PVA
• Gene name: desmoglein 3
• Alternate names: desmoglein-3, 130 kDa pemphigus vulgaris antigen, cadherin family member 6,
• Gene location: 18q12.1 (31447740: 31478711)     Exons: 16     NC_000018.10
• Gene summary(Entrez): 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 o

Protein Summary

• Protein general information: P32926  
  • Name: Desmoglein 3 (130 kDa pemphigus vulgaris antigen) (PVA) (Cadherin family member 6)
  • Length: 999  
  • Mass: 107533
  • Tissue specificity: Epidermis, tongue, tonsil, esophagus and carcinomas.
• Sequence:

  MMGLFPRTTGALAIFVVVILVHGELRIETKGQYDEEEMTMQQAKRRQKREWVKFAKPCREGEDNSKRNPIAKITS
  DYQATQKITYRISGVGIDQPPFGIFVVDKNTGDINITAIVDREETPSFLITCRALNAQGLDVEKPLILTVKILDI
  NDNPPVFSQQIFMGEIEENSASNSLVMILNATDADEPNHLNSKIAFKIVSQEPAGTPMFLLSRNTGEVRTLTNSL
  DREQASSYRLVVSGADKDGEGLSTQCECNIKVKDVNDNFPMFRDSQYSARIEENILSSELLRFQVTDLDEEYTDN
  WLAVYFFTSGNEGNWFEIQTDPRTNEGILKVVKALDYEQLQSVKLSIAVKNKAEFHQSVISRYRVQSTPVTIQVI
  NVREGIAFRPASKTFTVQKGISSKKLVDYILGTYQAIDEDTNKAASNVKYVMGRNDGGYLMIDSKTAEIKFVKNM
  NRDSTFIVNKTITAEVLAIDEYTGKTSTGTVYVRVPDFNDNCPTAVLEKDAVCSSSPSVVVSARTLNNRYTGPYT
  FALEDQPVKLPAVWSITTLNATSALLRAQEQIPPGVYHISLVLTDSQNNRCEMPRSLTLEVCQCDNRGICGTSYP
  TTSPGTRYGRPHSGRLGPAAIGLLLLGLLLLLLAPLLLLTCDCGAGSTGGVTGGFIPVPDGSEGTIHQWGIEGAH
  PEDKEITNICVPPVTANGADFMESSEVCTNTYARGTAVEGTSGMEMTTKLGAATESGGAAGFATGTVSGAASGFG
  AATGVGICSSGQSGTMRTRHSTGGTNKDYADGAISMNFLDSYFSQKAFACAEEDDGQEANDCLLIYDNEGADATG
  SPVGSVGCCSFIADDLDDSFLDSLGPKFKKLAEISLGVDGEGKEVQPPSKDSGYGIESCGHPIEVQQTGFVKCQT
  LSGSQGASALSTSGSVQPAVSIPDPLQHGNYLVTETYSASGSLVQPSTAGFDPLLTQNVIVTERVICPISSVPGN
  LAGPTQLRGSHTMLCTEDPCSRLI

• Structural information:
  • Protein Domains: (50..15-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (159..26-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (269..38-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR000233  IPR027397   IPR009123  IPR009122  
  • Prosite: PS00232 PS50268
  • PDB: 5EQX
  • PDBsum: 5EQX
  • STRING: ENSP00000257189
• Other Databases: GeneCards:  DSG3  Malacards:  DSG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0030057	desmosome	IBA	cellular component
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881