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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
  • 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

  • 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and CDK-mediated phosphorylation and removal of Cdc6. 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 DSG4.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSG2 Gene

Genomics for DSG2 Gene

Regulatory Elements for DSG2 Gene

Enhancers for DSG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G031446 1.2 FANTOM5 ENCODE dbSUPER 7.9 -46.5 -46495 9.4 STAT1 PKNOX1 JUN CEBPB ZNF426 CEBPG EP300 FOSL1 JUND CBX8 DSG3 DSG1-AS1 HNRNPA1P7 DSG2 DSC3 ENSG00000266521
GH18G031509 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.6 +14.1 14108 5.0 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 ZNF143 FOS SP5 MXD4 ENSG00000266521 B4GALT6 DSG2 DSC3 DSG1 DSC2 DSG2-AS1
GH18G031565 0.8 ENCODE 8.2 +68.6 68558 1.8 ELF3 DMAP1 THRB RAD21 RARA CREM MXD4 REST PPARG CEBPA TTR B4GALT6 SLC25A52 TRAPPC8 DSG2 DSG2-AS1
GH18G031202 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2.2 -292.2 -292243 7.2 HDGF PKNOX1 FEZF1 TCF12 GLIS2 GATA2 FOS KLF7 SP3 SP5 DSC2 DSC1 DSC3 DSG1 DSG3 DSG2 PIR46251 LOC105372049
GH18G031563 0.5 FANTOM5 6 +65.7 65742 0.3 CTCF ZNF740 RAD21 TTR B4GALT6 DSG2 DSG2-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSG2 on UCSC Golden Path with GeneCards custom track

Promoters for DSG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000101963 457 1801 HDGF CREB3L1 ZNF2 ZNF48 YY1 GLIS2 KLF7 ZNF610 SMARCA4 GLIS1

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

Post-translational modifications for DSG2 Gene

  • Ubiquitination at Lys706, isoforms=746, and Lys832
  • Glycosylation at isoforms=112, Asn182, Asn309, isoforms=462, and isoforms=514
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for 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.
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:0046872 metal 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
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

  • Taconic Biosciences Mouse Models for DSG2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSG2
  • Applied Biological Materials Clones for DSG2

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSG2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for DSG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
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:0003165 Purkinje myocyte development IMP 16505173
GO:0007155 cell adhesion IEA,IDA 17559062
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,IDA 17559062
GO:0031424 keratinization TAS --
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: HMDB and Novoseek

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSG2
  • Applied Biological Materials Clones for DSG2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DSG2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DSG2 Gene:

DSG2

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.

Evidence on tissue expression from TISSUES for DSG2 Gene

  • Liver(4.3)
  • Bone marrow(4.1)
  • Intestine(3.1)
  • Heart(3)
  • Skin(2.9)
  • Muscle(2.5)
  • Stomach(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with DSG2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia DSG2 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia DSG2 34 35
  • 83.62 (n)
cow
(Bos Taurus)
Mammalia DSG2 34 35
  • 80.2 (n)
mouse
(Mus musculus)
Mammalia Dsg2 34 16 35
  • 78.03 (n)
rat
(Rattus norvegicus)
Mammalia Dsg2 34
  • 76.31 (n)
oppossum
(Monodelphis domestica)
Mammalia DSG2 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSG2 34 35
  • 58.63 (n)
lizard
(Anolis carolinensis)
Reptilia DSG2 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dsg2 34
  • 56.28 (n)
zebrafish
(Danio rerio)
Actinopterygii dsg2 34
  • 48.44 (n)
dsg2l 35
  • 32 (a)
ManyToMany
si:ch73-74h11.1 35
  • 28 (a)
ManyToMany
CABZ01055869.1 35
  • 23 (a)
ManyToMany
Species where no ortholog for DSG2 was found in the sources mined by GeneCards:
  • 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
rs121913006 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] 31,519,867(+) AAAGC(A/G)CGCCT reference, missense
rs121913008 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] 31,519,858(+) AGTGC(A/G)GCAAA reference, missense
rs121913009 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] 31,536,298(+) AATCT(A/G/T)TCACG reference, missense
rs121913010 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] 31,545,820(+) CTATT(A/G/T)GTTGT nc-transcript-variant, reference, missense
rs191564916 Likely pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] 31,524,877(+) TTGTG(A/G)CCCTT reference, missense

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

Variant ID Type Subtype PubMed ID
esv2670863 CNV deletion 23128226
nsv833615 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
DSG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSG2

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

Disorders for DSG2 Gene

MalaCards: The human disease database

(29) 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
  • arrhythmogenic right ventricular cardiomyopathy 10
cardiomyopathy, dilated, 1bb
  • dilated cardiomyopathy 1bb
atrial standstill, digenic
  • atrial standstill 1
cardiomyopathy
  • cardiomyopathies
dsg2-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1bb
- 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 22 46 64
  2. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C. … Brugada R. (Clin. Genet. 2010) 3 4 46 64
  3. 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 46 64
  4. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PMID: 20031616) Bhuiyan Z.A. … van Tintelen J.P. (Circ Cardiovasc Genet 2009) 3 22 46 64
  5. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 16773573) Awad M.M. … Judge D.P. (Am. J. Hum. Genet. 2006) 3 4 22 64

Products for DSG2 Gene

  • Addgene plasmids for DSG2

Sources for DSG2 Gene

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