Gene Gene information from NCBI Gene database.
Entrez ID 1829
Gene name Desmoglein 2
Gene symbol DSG2
Synonyms (NCBI Gene)
CDHF5HDGC
Chromosome 18
Chromosome location 18q12.1
Summary 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
SNPs SNP information provided by dbSNP.
58
SNP ID Visualize variation Clinical significance Consequence
rs2230234 A>G,T Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance Missense variant, coding sequence variant
rs113451409 G>A,C,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, 5 prime UTR variant
rs121913006 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs121913007 G>A Pathogenic Stop gained, coding sequence variant
rs121913008 G>A,C Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
625
miRTarBase ID miRNA Experiments Reference
MIRT001550 hsa-miR-155-5p pSILAC 18668040
MIRT001550 hsa-miR-155-5p Proteomics;Other 18668040
MIRT022526 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023688 hsa-miR-1-3p Proteomics 18668040
MIRT023688 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope TAS
GO:0002934 Process Desmosome organization IMP 16505173
GO:0003165 Process Purkinje myocyte development IMP 16505173
GO:0005509 Function Calcium ion binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
125671 3049 ENSG00000046604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14126
Protein name Desmoglein-2 (Cadherin family member 5) (HDGC)
Protein function A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:38395410). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Required for
PDB 2YQG , 5ERD , 5J5J , 6QNT , 6QNU , 6SIT , 7A7D , 7AGF , 7AGG , 8QJX , 8QJY , 8QK3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00028 Cadherin 164 263 Cadherin domain Domain
PF00028 Cadherin 278 378 Cadherin domain Domain
PF00028 Cadherin 396 490 Cadherin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in undifferentiated pluripotent stem cells, expression decreases during differentiation (at protein level) (PubMed:29910125). Expressed in hematopoietic stem cells and circulating endothelial progenitor cells, expression decr
Sequence
MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALRE
GEDLSKKNPIAKIHSDLAEERGLKITYKYTGKGITEPPFGIFVFNKDTGELNVTSILDRE
ETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPVFTQDVFVGSVEELSAAHTLVMK
INATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTGEIYTTSVTLDREEHSSYTLTVE
ARDGNGEVTDKPVKQAQVQIRIL
DVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADE
IGSDNWLANFTFASGNEGGYFHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAF
HKSIRSKYKPTPIPIKVK
VKNVKEGIHFKSSVISIYVSESMDRSSKGQIIGNFQAFDEDT
GLPAHARYVKLEDRDNWISVDSVTSEIKLAKLPDFESRYVQNGTYTVKIVAISEDYPRKT
ITGTVLINVE
DINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPNSGPFSFSVIDKPPGM
AEKWKIARQESTSVLLQQSEKKLGRSEIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCR
EAQHDSYVGLGPAAIALMILAFLLLLLVPLLLLMCHCGKGAKGFTPIPGTIEMLHPWNNE
GAPPEDKVVPSFLPVDQGGSLVGRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEE
HRSLLSGRATQFTGATGAIMTTETTKTARATGASRDMAGAQAAAVALNEEFLRNYFTDKA
ASYTEEDENHTAKDCLLVYSQEETESLNASIGCCSFIEGELDDRFLDDLGLKFKTLAEVC
LGQKIDINKEIEQRQKPATETSMNTASHSLCEQTMVNSENTYSSGSSFPVPKSLQEANAE
KVTQEIVTERSVSSRQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQS
LIVTERVYAPASTLVDQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERE
SFLAPSSGVQPTLAMPNIAVGQNVTVTERVLAPASTLQSSYQIPTENSMTARNTTVSGAG
VPGPLPDFGLEESGHSNSTITTSSTRVTKHSTVQHSYS
Sequence length 1118
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells
Arrhythmogenic right ventricular cardiomyopathy
  Apoptotic cleavage of cell adhesion proteins
Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3730
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular cardiomyopathy Likely pathogenic; Pathogenic rs369489095, rs754133577, rs2510917769, rs121913006, rs121913008, rs1064793983, rs397516712, rs1187924885, rs745457570, rs752522753 RCV004017871
RCV002260457
RCV004017943
RCV000211715
RCV000211714
RCV005355935
RCV000037320
RCV000852472
RCV000853179
RCV004807303
Arrhythmogenic right ventricular dysplasia 10 Likely pathogenic; Pathogenic rs1472037685, rs1257877047, rs2144318119, rs1375012922, rs2144359029, rs2144332473, rs2144322548, rs553299589, rs779360113, rs2144317638, rs773328409, rs2144317658, rs2144332585, rs2073125384, rs1452179158
View all (55 more)
RCV001379680
RCV001377832
RCV001389001
RCV001389641
RCV001389557
RCV001724718
RCV002539833
RCV001785340
RCV001988896
RCV001985851
RCV001864753
RCV001933776
RCV001967260
RCV001953430
RCV001946651
RCV001875576
RCV001959041
RCV001963173
RCV001873956
RCV002275682
RCV003098200
RCV003631269
RCV002601835
RCV003988832
RCV001852263
RCV001852264
RCV002857013
RCV002847961
RCV003010293
RCV003010011
RCV003020367
RCV003039512
RCV000813935
RCV003314484
RCV003315121
RCV003322734
RCV003486406
RCV003517518
RCV003516826
RCV003516989
RCV003631841
RCV003631821
RCV003632839
RCV000018303
RCV000018305
RCV000018308
RCV004545949
RCV004555981
RCV000473344
RCV001865472
RCV006436790
RCV003631130
RCV001858038
RCV000533601
RCV005089354
RCV000706687
RCV000702405
RCV000709722
RCV000709721
RCV000792820
RCV000809136
RCV001257462
RCV001858460
RCV001858508
RCV001069981
RCV001198540
RCV001222719
RCV001214107
RCV001250161
RCV001262402
Arrhythmogenic right ventricular dysplasia 9 Likely pathogenic; Pathogenic rs121913006 RCV002254518
Cardiomyopathy Likely pathogenic; Pathogenic rs794728094, rs121913008, rs1064793983, rs775256998, rs752522753 RCV001808460
RCV001798008
RCV001170379
RCV001175770
RCV005401720
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular dysplasia 1 Benign; Likely benign rs191143292 RCV000211473
Cardiac arrest Conflicting classifications of pathogenicity; Uncertain significance rs201046640, rs780650226, rs113451409 RCV000208226
RCV000208434
RCV000208207
Cardiac arrhythmia Benign; Likely benign rs8095704 RCV001841525
Catecholaminergic polymorphic ventricular tachycardia 1 Conflicting classifications of pathogenicity rs121913013 RCV000157180
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abrikosov's tumor Inhibit 28323918
Acidosis Associate 34993253
Alzheimer Disease Associate 25723573, 28199971, 33213512
Arrhythmias Cardiac Associate 30790397
Arrhythmogenic Right Ventricular Dysplasia Associate 16698823, 17033975, 18596851, 18632414, 19358943, 20124997, 20152563, 20708101, 21636032, 22214898, 23071725, 23128240, 24086444, 25445213, 25837155
View all (19 more)
Arrhythmogenic Right Ventricular Dysplasia Inhibit 35628349
Brugada Syndrome Associate 36303204
Calcinosis Cutis Associate 17607380
Carcinogenesis Associate 26918609
Carcinoma Hepatocellular Associate 30229819