• Gene id: 1824

Gene Summary

• Gene Symbol: DSC2   Gene   UCSC   Ensembl
• Aliases: ARVD11, CDHF2, DG2, DGII/III, DSC3
• Gene name: desmocollin 2
• Alternate names: desmocollin-2, cadherin family member 2, desmosomal glycoprotein II/III,
• Gene location: 18q12.1 (31102420: 31058839)     Exons: 18     NC_000018.10
• Gene summary(Entrez): This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing f
• OMIM: 611849

Protein Summary

• Protein general information: Q02487  
  • Name: Desmocollin 2 (Cadherin family member 2) (Desmocollin 3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III)
  • Length: 901  
  • Mass: 99962
  • Tissue specificity: Expressed in epithelia, myocardium and lymph nodes.
• Sequence:

  MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTAANLIHSSDPDFQILE
  DGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVLKKRHTKEKVLRRAKRRWAPIPCSMLENSLG
  PFPLFLQQVQSDTAQNYTIYYSIRGPGVDQEPRNLFYVERDTGNLYCTRPVDREQYESFEIIAFATTPDGYTPEL
  PLPLIIKIEDENDNYPIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRLKYSIIGQVPPSPTLFSMHPT
  TGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSYVTSVEENTVDVEILR
  VTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVVKPLNYEEKQQMILQIGVVNEAPFSREASPR
  SAMSTATVTVNVEDQDEGPECNPPIQTVRMKENAEVGTTSNGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTG
  SIKVFRSLDREAETIKNGIYNITVLASDQGGRTCTGTLGIILQDVNDNSPFIPKKTVIICKPTMSSAEIVAVDPD
  EPIHGPPFDFSLESSTSEVQRMWRLKAINDTAARLSYQNDPPFGSYVVPITVRDRLGMSSVTSLDVTLCDCITEN
  DCTHRVDPRIGGGGVQLGKWAILAILLGIALLFCILFTLVCGASGTSKQPKVIPDDLAQQNLIVSNTEAPGDDKV
  YSANGFTTQTVGASAQGVCGTVGSGIKNGGQETIEMVKGGHQTSESCRGAGHHHTLDSCRGGHTEVDNCRYTYSE
  WHSFTQPRLGEKVYLCNQDENHKHAQDYVLTYNYEGRGSVAGSVGCCSERQEEDGLEFLDNLEPKFRTLAEACMK
  R

• 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
  • PDB: 5ERP 5J5J
  • PDBsum: 5ERP 5J5J
  • STRING: ENSP00000280904
• Other Databases: GeneCards:  DSC2  Malacards:  DSC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005911	cell-cell junction	IBA	cellular component
GO:0030057	desmosome	IBA	cellular component
GO:0098609	cell-cell adhesion	IBA	biological process
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:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	TAS	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:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	molecular function
GO:0014704	intercalated disc	IDA	cellular component
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030057	desmosome	IDA	cellular component
GO:0030057	desmosome	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0086042	cardiac muscle cell-cardiac muscle cell adhesion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
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