Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1829
Gene name Gene Name - the full gene name approved by the HGNC.
Desmoglein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DSG2
Synonyms (NCBI Gene) Gene synonyms aliases
CDHF5, HDGC
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
125671 3049 ENSG00000046604
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 9 rs1555671201, rs775256998, rs397516712, rs1555627108, rs794728083, rs1555671441, rs763907170, rs1568098570, rs121913006, rs794728094, rs1567933176, rs1187924885, rs794728098, rs1375081885, rs781532110
View all (9 more)
N/A
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy rs763907170, rs1187924885, rs121913006, rs745457570, rs121913008, rs752522753, rs1064793983, rs397516712 N/A
cardiomyopathy Cardiomyopathy rs794728094, rs121913008, rs752522753, rs1064793983, rs775256998 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
cardiac arrhythmia Cardiac arrhythmia N/A N/A ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 N/A N/A ClinVar
Conduction Disorder Of The Heart conduction disorder of the heart N/A N/A ClinVar
Associations from Text Mining Disease 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