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Aliases for DSG2 Gene

Aliases for DSG2 Gene

  • Desmoglein 2 2 3 5
  • Cadherin Family Member 5 3 4
  • CDHF5 3 4
  • HDGC 3 4

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

  • 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 other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

GeneCards Summary for DSG2 Gene

DSG2 (Desmoglein 2) is a Protein Coding gene. Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia 10 and cardiomyopathy, dilated, 1bb. Among its related pathways are Apoptotic cleavage of cellular proteins and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium ion binding and cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication. 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

Promoters for DSG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DSG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DSG2 Gene

Chromosome:
18
Start:
31,498,043 bp from pter
End:
31,549,008 bp from pter
Size:
50,966 bases
Orientation:
Plus strand

Genomic View for DSG2 Gene

Genes around DSG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q14126-DSG2_HUMAN
    Recommended name:
    Desmoglein-2
    Protein Accession:
    Q14126
    Secondary Accessions:
    • Q4KKU6

    Protein attributes for DSG2 Gene

    Size:
    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 Lys 706, Lys 746, and Lys 832
  • Glycosylation at Asn 112, Asn 182, Asn 309, Asn 462, and Asn 514
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for DSG2 Gene

Domains & Families 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

Q14126

UniProtKB/Swiss-Prot:

DSG2_HUMAN :
  • 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.
Domain:
  • 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.
genes like me logo Genes that share phenotypes with DSG2: view

Human Phenotype Ontology for DSG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSG2 Gene

MGI Knock Outs for DSG2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

Gene Ontology (GO) - Cellular Components for DSG2 Gene

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

Pathways & Interactions for DSG2 Gene

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

Gene Ontology (GO) - Biological Process for DSG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization IMP 16505173
GO:0006915 apoptotic process TAS --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,IDA 17559062
GO:0012501 programmed cell death TAS --
GO:0032570 response to progesterone IEA --
genes like me logo Genes that share ontologies with DSG2: view

No data available for SIGNOR curated interactions for DSG2 Gene

Drugs & Compounds for DSG2 Gene

(2) Drugs for DSG2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for DSG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSG2: view

Transcripts for DSG2 Gene

mRNA/cDNA for DSG2 Gene

Unigene Clusters for DSG2 Gene

Desmoglein 2:
Representative Sequences:

Inhibitory RNA Products

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
DSG2
ECgene alternative splicing isoforms for
DSG2

Expression for DSG2 Gene

mRNA expression in normal human tissues for DSG2 Gene

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

This gene is overexpressed in Colon - Transverse (x7.8) and Minor Salivary Gland (x4.5).

Protein differential expression in normal tissues from HIPED for DSG2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q14126-DSG2_HUMAN
Tissue specificity: All of the tissues tested and carcinomas.
genes like me logo Genes that share expression patterns with DSG2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-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
cow
(Bos Taurus)
Mammalia DSG2 35
  • 80.2 (n)
  • 76.25 (a)
DSG2 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSG2 35
  • 83.62 (n)
  • 78.49 (a)
DSG2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsg2 35
  • 78.03 (n)
  • 76.95 (a)
Dsg2 16
Dsg2 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSG2 35
  • 99.25 (n)
  • 99.02 (a)
DSG2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsg2 35
  • 76.31 (n)
  • 76.28 (a)
oppossum
(Monodelphis domestica)
Mammalia DSG2 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSG2 35
  • 58.63 (n)
  • 51.28 (a)
DSG2 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSG2 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dsg2 35
  • 56.28 (n)
  • 45.74 (a)
zebrafish
(Danio rerio)
Actinopterygii dsg2 35
  • 48.44 (n)
  • 40.99 (a)
CABZ01055869.1 36
  • 23 (a)
ManyToMany
dsg2l 36
  • 32 (a)
ManyToMany
si:ch73-74h11.1 36
  • 28 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for DSG2 (if available)
TreeFam:
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
VAR_029365 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
VAR_029366 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
VAR_029367 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
VAR_029368 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
rs2230232 - 31,520,852(+) CAAAT(A/G)CACTG reference, missense

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

Variation tolerance for DSG2 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.90; 87.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSG2 Gene

HapMap Linkage Disequilibrium report
DSG2
Human Gene Mutation Database (HGMD)
DSG2

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

Disorders for DSG2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for DSG2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 10
  • arvd10
cardiomyopathy, dilated, 1bb
  • cmd1bb
cardiomyopathy
  • cardiomyopathies
dsg2-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1bb
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
- elite association - COSMIC cancer census association via MalaCards
Search DSG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSG2_HUMAN
  • 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.

Relevant External Links for DSG2

Genetic Association Database (GAD)
DSG2
Human Genome Epidemiology (HuGE) Navigator
DSG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSG2
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 67
  2. The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. (PMID: 1612610) Arnemann J. … Buxton R.S. (Genomics 1992) 2 3 23
  3. Desmoglein 2-mediated adhesion is required for intestinal epithelial barrier integrity. (PMID: 20224006) Schlegel N. … Waschke J. (Am. J. Physiol. Gastrointest. Liver Physiol. 2010) 3 23
  4. EGFR and ADAMs cooperate to regulate shedding and endocytic trafficking of the desmosomal cadherin desmoglein 2. (PMID: 18987342) Klessner J.L. … Green K.J. (Mol. Biol. Cell 2009) 3 23
  5. Increased expression of Dsg2 in malignant skin carcinomas: A tissue-microarray based study. (PMID: 19458482) Brennan D. … Mahoney M.G. (Cell Adh Migr 2009) 3 23

Products for DSG2 Gene

Sources for DSG2 Gene

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