• Gene id: 1829

Gene Summary

• Gene Symbol: DSG2   Gene   UCSC   Ensembl
• Aliases: CDHF5, HDGC
• Gene name: desmoglein 2
• Alternate names: desmoglein-2, cadherin family member 5,
• Gene location: 18q12.1 (31498176: 31549007)     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
• OMIM: 613004

Protein Summary

• Protein general information: Q14126  
  • Name: Desmoglein 2 (Cadherin family member 5) (HDGC)
  • Length: 1118  
  • Mass: 122294
  • Tissue specificity: All of the tissues tested and carcinomas.
• Sequence:

  MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALREGEDLSKKNPIAKIHS
  DLAEERGLKITYKYTGKGITEPPFGIFVFNKDTGELNVTSILDREETPFFLLTGYALDARGNNVEKPLELRIKVL
  DINDNEPVFTQDVFVGSVEELSAAHTLVMKINATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTGEIYTTSV
  TLDREEHSSYTLTVEARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADE
  IGSDNWLANFTFASGNEGGYFHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAFHKSIRSKYKPTPIPI
  KVKVKNVKEGIHFKSSVISIYVSESMDRSSKGQIIGNFQAFDEDTGLPAHARYVKLEDRDNWISVDSVTSEIKLA
  KLPDFESRYVQNGTYTVKIVAISEDYPRKTITGTVLINVEDINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPN
  SGPFSFSVIDKPPGMAEKWKIARQESTSVLLQQSEKKLGRSEIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCR
  EAQHDSYVGLGPAAIALMILAFLLLLLVPLLLLMCHCGKGAKGFTPIPGTIEMLHPWNNEGAPPEDKVVPSFLPV
  DQGGSLVGRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEEHRSLLSGRATQFTGATGAIMTTETTKTARA
  TGASRDMAGAQAAAVALNEEFLRNYFTDKAASYTEEDENHTAKDCLLVYSQEETESLNASIGCCSFIEGELDDRF
  LDDLGLKFKTLAEVCLGQKIDINKEIEQRQKPATETSMNTASHSLCEQTMVNSENTYSSGSSFPVPKSLQEANAE
  KVTQEIVTERSVSSRQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQSLIVTERVYAPASTLV
  DQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERESFLAPSSGVQPTLAMPNIAVGQNVTVTERV
  LAPASTLQSSYQIPTENSMTARNTTVSGAGVPGPLPDFGLEESGHSNSTITTSSTRVTKHSTVQHSYS

• Structural information:
  • Protein Domains: (50..16-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (161..27-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (274..38-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR027397  IPR009123   IPR009122  
  • Prosite: PS00232 PS50268
  • PDB: 2YQG 5ERD 5J5J 6QNT 6QNU 6SIT
  • PDBsum: 2YQG 5ERD 5J5J 6QNT 6QNU 6SIT
  • DIP: 46250
  • STRING: ENSP00000261590
• Other Databases: GeneCards:  DSG2  Malacards:  DSG2

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:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
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:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0032570	response to progesterone	IEA	biological process
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
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:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	molecular function
GO:0050839	cell adhesion molecule binding	IPI	molecular function
GO:0014704	intercalated disc	IDA	cellular component
GO:0030057	desmosome	IDA	cellular component
GO:0003165	Purkinje myocyte development	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA	biological process
GO:0002934	desmosome organization	IMP	biological process
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:0030054	cell junction	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0007155	cell adhesion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009986	cell surface	HDA	cellular component

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