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Aliases for DSG2 Gene

Aliases for DSG2 Gene

  • Desmoglein 2 2 3
  • Cadherin Family Member 5 3 4
  • ARVC10 3 6
  • ARVD10 3 6
  • CMD1BB 3 6
  • CDHF5 3 4
  • HDGC 3 4
  • Desmoglein-2 3

External Ids for DSG2 Gene

Previous GeneCards Identifiers for DSG2 Gene

  • GC18P029101
  • GC18P028897
  • GC18P027330
  • GC18P027332
  • GC18P025934

Summaries for DSG2 Gene

Entrez Gene Summary for DSG2 Gene

  • Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jul 2008]

GeneCards Summary for DSG2 Gene

DSG2 (Desmoglein 2) is a Protein Coding gene. Diseases associated with DSG2 include cardiomyopathy, dilated, 1bb and arrhythmogenic right ventricular dysplasia 10. Among its related pathways are Cytoskeletal Signaling and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH13.

UniProtKB/Swiss-Prot for DSG2 Gene

  • Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion

Gene Wiki entry for DSG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSG2 Gene

Genomics for DSG2 Gene

Regulatory Elements for DSG2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DSG2 Gene

31,498,043 bp from pter
31,549,008 bp from pter
50,966 bases
Plus strand

Genomic View for DSG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSG2 Gene

Proteins for DSG2 Gene

  • Protein details for DSG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q4KKU6

    Protein attributes for DSG2 Gene

    1118 amino acids
    Molecular mass:
    122294 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DSG2 Gene

neXtProt entry for DSG2 Gene

Proteomics data for DSG2 Gene at MOPED

Post-translational modifications for DSG2 Gene

  • Ubiquitination at Lys706, Lys746, and Lys832
  • Glycosylation at Asn112, Asn182, Asn309, Asn462, and Asn514
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DSG2 (DSG2)

No data available for DME Specific Peptides for DSG2 Gene

Domains for DSG2 Gene

Gene Families for DSG2 Gene

Suggested Antigen Peptide Sequences for DSG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
  • Contains 4 cadherin domains.
genes like me logo Genes that share domains with DSG2: view

Function for DSG2 Gene

Molecular function for DSG2 Gene

GENATLAS Biochemistry:
desmoglein 2 (desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion molecule),weakly expressed in simple and stratified epithelium
UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion

Gene Ontology (GO) - Molecular Function for DSG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0050839 cell adhesion molecule binding IPI 17559062
GO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC 16505173
genes like me logo Genes that share ontologies with DSG2: view

Phenotypes for DSG2 Gene

MGI mutant phenotypes for DSG2:
inferred from 1 alleles
GenomeRNAi human phenotypes for DSG2:
genes like me logo Genes that share phenotypes with DSG2: view

Animal Models for DSG2 Gene

MGI Knock Outs for DSG2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSG2 Gene

Localization for DSG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSG2 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Subcellular locations from

Jensen Localization Image for DSG2 Gene COMPARTMENTS Subcellular localization image for DSG2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for DSG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction TAS 8143788
GO:0009986 cell surface IDA 19581412
GO:0014704 intercalated disc IDA 23381804
GO:0016020 membrane --
genes like me logo Genes that share ontologies with DSG2: view

Pathways for DSG2 Gene

genes like me logo Genes that share pathways with DSG2: view

Pathways by source for DSG2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DSG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization IMP 16505173
GO:0003165 Purkinje myocyte development IMP 16505173
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0007155 cell adhesion IDA 17559062
genes like me logo Genes that share ontologies with DSG2: view

Drugs for DSG2 Gene

(1) HMDB Compounds for DSG2 Gene

Compound Synonyms Cas Number PubMed IDs
  • Ca

(2) Novoseek inferred chemical compound relationships for DSG2 Gene

Compound -log(P) Hits PubMed IDs
pki-166 80.7 1
tyrosine 11.3 4
genes like me logo Genes that share compounds with DSG2: view

Transcripts for DSG2 Gene

mRNA/cDNA for DSG2 Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(251) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DSG2 Gene

Desmoglein 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSG2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSG2 Gene

No ASD Table

Relevant External Links for DSG2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DSG2 Gene

mRNA expression in normal human tissues for DSG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSG2 Gene

This gene is overexpressed in Colon - Transverse (7.8) and Minor Salivary Gland (4.5).

Protein differential expression in normal tissues for DSG2 Gene

This gene is overexpressed in Serum (19.5) and Salivary gland (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DSG2 Gene

SOURCE GeneReport for Unigene cluster for DSG2 Gene Hs.412597

mRNA Expression by UniProt/SwissProt for DSG2 Gene

Tissue specificity: All of the tissues tested and carcinomas
genes like me logo Genes that share expressions with DSG2: view

Primer Products

In Situ Assay Products

No data available for Expression partners for DSG2 Gene

Orthologs for DSG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSG2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DSG2 35
  • 80.2 (n)
  • 76.25 (a)
DSG2 36
  • 75 (a)
(Canis familiaris)
Mammalia DSG2 35
  • 83.62 (n)
  • 78.49 (a)
DSG2 36
  • 77 (a)
(Mus musculus)
Mammalia Dsg2 35
  • 78.03 (n)
  • 76.95 (a)
Dsg2 16
Dsg2 36
  • 76 (a)
(Pan troglodytes)
Mammalia DSG2 35
  • 99.25 (n)
  • 99.02 (a)
DSG2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Dsg2 35
  • 76.31 (n)
  • 76.28 (a)
(Monodelphis domestica)
Mammalia DSG2 36
  • 58 (a)
(Gallus gallus)
Aves DSG2 35
  • 58.63 (n)
  • 51.28 (a)
DSG2 36
  • 48 (a)
(Anolis carolinensis)
Reptilia DSG2 36
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dsg2 35
  • 56.28 (n)
  • 45.74 (a)
(Danio rerio)
Actinopterygii dsg2 35
  • 48.44 (n)
  • 40.99 (a)
CABZ01055869.1 36
  • 23 (a)
dsg2l 36
  • 32 (a)
si:ch73-74h11.1 36
  • 28 (a)
Species with no ortholog for DSG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSG2 Gene

Gene Tree for DSG2 (if available)
Gene Tree for DSG2 (if available)

Paralogs for DSG2 Gene

Paralogs for DSG2 Gene

(7) SIMAP similar genes for DSG2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DSG2: view

Variants for DSG2 Gene

Sequence variations from dbSNP and Humsavar for DSG2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs1791173 -- 31,539,394(-) AATAA(A/G)CTGGG intron-variant
rs1791174 -- 31,539,295(-) TGGGA(A/G)TACAG intron-variant
rs1791176 -- 31,537,546(-) tgcct(C/T)ctggg intron-variant
rs1839233 -- 31,533,085(+) CAAAC(C/T)TATTa intron-variant
rs1841396 -- 31,504,458(-) CGATA(A/T)CTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DSG2 Gene

Variant ID Type Subtype PubMed ID
nsv833615 CNV Gain 17160897
esv2670863 CNV Deletion 23128226

Relevant External Links for DSG2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSG2 Gene

Disorders for DSG2 Gene

(2) OMIM Diseases for DSG2 Gene (125671)


  • Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:16773573, ECO:0000269 PubMed:19863551, ECO:0000269 PubMed:20031617, ECO:0000269 PubMed:21062920}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:18678517}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DSG2 Gene

(12) Novoseek inferred disease relationships for DSG2 Gene

Disease -log(P) Hits PubMed IDs
arrhythmogenic right ventricular dysplasia 86.2 6
pemphigus foliaceus 71.9 2
pemphigus vulgaris 66.7 2
pemphigus 66.1 2
cardiomyopathy 52.4 2

Relevant External Links for DSG2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DSG2: view

No data available for Genatlas for DSG2 Gene

Publications for DSG2 Gene

  1. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. (PMID: 18678517) Posch M.G. … Ozcelik C. (Mol. Genet. Metab. 2008) 3 4 23 48
  2. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C. … Brugada R. (Clin. Genet. 2010) 3 4 48
  3. Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins. (PMID: 8143788) Schaefer S. … Franke W.W. (Exp. Cell Res. 1994) 3 4 23
  4. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 16773573) Awad M.M. … Judge D.P. (Am. J. Hum. Genet. 2006) 3 4 23
  5. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan A.D. … Judge D.P. (Circ. Cardiovasc. Genet. 2009) 3 4 48

Products for DSG2 Gene

  • Addgene plasmids for DSG2

Sources for DSG2 Gene

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