• Gene id: 1825

Gene Summary

• Gene Symbol: DSC3   Gene   UCSC   Ensembl
• Aliases: CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP
• Gene name: desmocollin 3
• Alternate names: desmocollin-3, cadherin family member 3, desmocollin-4,
• Gene location: 18q12.1 (31042814: 30989364)     Exons: 17     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 614428

Protein Summary

• Protein general information: Q14574  
  • Name: Desmocollin 3 (Cadherin family member 3) (Desmocollin 4) (HT CP)
  • Length: 896  
  • Mass: 99969
  • Tissue specificity: Epidermis, buccal mucosa, esophagus and cervix.
• Sequence:

  MAAAGPRRSVRGAVCLHLLLTLVIFSRAGEACKKVILNVPSKLEADKIIGRVNLEECFRSADLIRSSDPDFRVLN
  DGSVYTARAVALSDKKRSFTIWLSDKRKQTQKEVTVLLEHQKKVSKTRHTRETVLRRAKRRWAPIPCSMQENSLG
  PFPLFLQQVESDAAQNYTVFYSISGRGVDKEPLNLFYIERDTGNLFCTRPVDREEYDVFDLIAYASTADGYSADL
  PLPLPIRVEDENDNHPVFTEAIYNFEVLESSRPGTTVGVVCATDRDEPDTMHTRLKYSILQQTPRSPGLFSVHPS
  TGVITTVSHYLDREVVDKYSLIMKVQDMDGQFFGLIGTSTCIITVTDSNDNAPTFRQNAYEAFVEENAFNVEILR
  IPIEDKDLINTANWRVNFTILKGNENGHFKISTDKETNEGVLSVVKPLNYEENRQVNLEIGVNNEAPFARDIPRV
  TALNRALVTVHVRDLDEGPECTPAAQYVRIKENLAVGSKINGYKAYDPENRNGNGLRYKKLHDPKGWITIDEISG
  SIITSKILDREVETPKNELYNITVLAIDKDDRSCTGTLAVNIEDVNDNPPEILQEYVVICKPKMGYTDILAVDPD
  EPVHGAPFYFSLPNTSPEISRLWSLTKVNDTAARLSYQKNAGFQEYTIPITVKDRAGQAATKLLRVNLCECTHPT
  QCRATSRSTGVILGKWAILAILLGIALLFSVLLTLVCGVFGATKGKRFPEDLAQQNLIISNTEAPGDDRVCSANG
  FMTQTTNNSSQGFCGTMGSGMKNGGQETIEMMKGGNQTLESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFT
  QPRLGEKLHRCNQNEDRMPSQDYVLTYNYEGRGSPAGSVGCCSEKQEEDGLDFLNNLEPKFITLAEACTKR

• Structural information:
  • Protein Domains: (136..24-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (244..35-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (356..47-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR000233  IPR014868   IPR027397  IPR009122  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000353608
• Other Databases: GeneCards:  DSC3  Malacards:  DSC3

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:0045295	gamma-catenin 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:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005911	cell-cell junction	TAS	cellular component
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:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
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:0045295	gamma-catenin 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:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005911	cell-cell junction	TAS	cellular component
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:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component

Diseases

Associated diseases	References
Hypotrichosis and recurrent skin vesicles	KEGG:H00782
Hypotrichosis and recurrent skin vesicles	KEGG:H00782
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