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Aliases for DSG3 Gene

Aliases for DSG3 Gene

  • Desmoglein 3 2 3 5
  • 130 KDa Pemphigus Vulgaris Antigen 3 4
  • Cadherin Family Member 6 3 4
  • CDHF6 3 4
  • PVA 3 4
  • Desmoglein 3 (Pemphigus Vulgaris Antigen) 2
  • Pemphigus Vulgaris Antigen 2
  • Desmoglein-3 3

External Ids for DSG3 Gene

Previous GeneCards Identifiers for DSG3 Gene

  • GC18P029050
  • GC18P028846
  • GC18P027279
  • GC18P027281
  • GC18P025884

Summaries for DSG3 Gene

Entrez Gene Summary for DSG3 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. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]

GeneCards Summary for DSG3 Gene

DSG3 (Desmoglein 3) is a Protein Coding gene. Diseases associated with DSG3 include Pemphigus Vulgaris and Pemphigus. Among its related pathways are Apoptotic cleavage of cellular proteins and Keratinization. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG4.

UniProtKB/Swiss-Prot for DSG3 Gene

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

Gene Wiki entry for DSG3 Gene

Additional gene information for DSG3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSG3 Gene

Genomics for DSG3 Gene

GeneHancer (GH) Regulatory Elements for DSG3 Gene

Promoters and enhancers for DSG3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J031446 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE dbSUPER 664.2 +3.8 3779 9.4 STAT1 PKNOX1 JUN CEBPB CEBPG EP300 FOSL1 JUND IKZF1 STAT3 DSG3 DSG1-AS1 DSG2 DSC3 ENSG00000266521
GH18J031202 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.5 -242.0 -241968 7.2 HDGF PKNOX1 FOXA2 FEZF1 IRF4 TCF12 GLIS2 ZNF213 KLF7 FOS PIR46251 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 LOC105372049
GH18J031485 Enhancer 1.5 VISTA Ensembl ENCODE dbSUPER 0.3 +40.8 40834 6.1 MEIS2 PKNOX1 BACH1 MAX BMI1 BATF RELA FOSL1 EED ATF7 ENSG00000266521 DSG1-AS1 DSG3
GH18J031427 Enhancer 0.6 ENCODE dbSUPER 0.4 -18.6 -18558 2.7 GATA3 ZNF512 DSG1-AS1 DSG3
GH18J031484 Enhancer 0.4 ENCODE dbSUPER 0.3 +36.8 36844 0.2 ENSG00000266521 DSG3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSG3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DSG3 gene promoter:
  • AREB6
  • CUTL1
  • Sox5
  • HFH-3
  • FOXI1
  • Lmo2
  • NCX
  • STAT5B
  • STAT1alpha
  • STAT1

Genomic Locations for DSG3 Gene

Genomic Locations for DSG3 Gene
chr18:31,447,769-31,478,702
(GRCh38/hg38)
Size:
30,934 bases
Orientation:
Plus strand
chr18:29,027,732-29,058,665
(GRCh37/hg19)
Size:
30,934 bases
Orientation:
Plus strand

Genomic View for DSG3 Gene

Genes around DSG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSG3 Gene

Proteins for DSG3 Gene

  • Protein details for DSG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32926-DSG3_HUMAN
    Recommended name:
    Desmoglein-3
    Protein Accession:
    P32926
    Secondary Accessions:
    • A8K2V2

    Protein attributes for DSG3 Gene

    Size:
    999 amino acids
    Molecular mass:
    107533 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Pemphigus vulgaris (PV) is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion caused by the action of autoantibodies against desmoglein 3.

    Three dimensional structures from OCA and Proteopedia for DSG3 Gene

neXtProt entry for DSG3 Gene

Post-translational modifications for DSG3 Gene

  • Glycosylation at Thr601, posLast=545545, Asn459, posLast=180180, and posLast=110110
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSG3 Gene

Domains & Families for DSG3 Gene

Gene Families for DSG3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for DSG3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P32926

UniProtKB/Swiss-Prot:

DSG3_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 DSG3: view

Function for DSG3 Gene

Molecular function for DSG3 Gene

UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
GENATLAS Biochemistry:
desmoglein 3 (desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion molecule),pemphigus vulgaris and herpetiform pemphigus,autoantigen (130kDa),mostly expressed in stratified squamous epithelia,lower spinous layer,critical for development of the epidermis and physiologic terminal differentiation of keratinocytes

Phenotypes From GWAS Catalog for DSG3 Gene

Gene Ontology (GO) - Molecular Function for DSG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DSG3: view
genes like me logo Genes that share phenotypes with DSG3: view

Animal Models for DSG3 Gene

MGI Knock Outs for DSG3:
  • Dsg3 Dsg3<tm1Stan>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DSG3 Gene

Localization for DSG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSG3 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 DSG3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for DSG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DSG3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DSG3 Gene

Pathways & Interactions for DSG3 Gene

genes like me logo Genes that share pathways with DSG3: view

Gene Ontology (GO) - Biological Process for DSG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with DSG3: view

No data available for SIGNOR curated interactions for DSG3 Gene

Drugs & Compounds for DSG3 Gene

(6) Drugs for DSG3 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
DESMOGLEIN-3 Pharma 0

(2) Additional Compounds for DSG3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSG3: view

Transcripts for DSG3 Gene

mRNA/cDNA for DSG3 Gene

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

Unigene Clusters for DSG3 Gene

Desmoglein 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSG3 Gene

No ASD Table

Relevant External Links for DSG3 Gene

GeneLoc Exon Structure for
DSG3
ECgene alternative splicing isoforms for
DSG3

Expression for DSG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DSG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSG3 Gene

This gene is overexpressed in Esophagus - Mucosa (x25.1), Vagina (x8.3), Minor Salivary Gland (x7.3), and Cervix - Ectocervix (x5.7).

Protein differential expression in normal tissues from HIPED for DSG3 Gene

This gene is overexpressed in Cervix (20.0), Hair follicle (19.8), Esophagus (11.7), Saliva (10.0), and Urine (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DSG3 Gene



Protein tissue co-expression partners for DSG3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DSG3 Gene:

DSG3

SOURCE GeneReport for Unigene cluster for DSG3 Gene:

Hs.1925

mRNA Expression by UniProt/SwissProt for DSG3 Gene:

P32926-DSG3_HUMAN
Tissue specificity: Epidermis, tongue, tonsil, esophagus and carcinomas.

Evidence on tissue expression from TISSUES for DSG3 Gene

  • Saliva(4.1)
  • Skin(3.6)
genes like me logo Genes that share expression patterns with DSG3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DSG3 Gene

Orthologs for DSG3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSG3 34 33
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DSG3 34 33
  • 85.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSG3 34 33
  • 81.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dsg3 16 34 33
  • 78.14 (n)
rat
(Rattus norvegicus)
Mammalia Dsg3 33
  • 77.33 (n)
oppossum
(Monodelphis domestica)
Mammalia DSG3 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSG3 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dsg2l 34
  • 30 (a)
ManyToMany
si:ch73-74h11.1 34
  • 24 (a)
ManyToMany
CABZ01055869.1 34
  • 20 (a)
ManyToMany
Species where no ortholog for DSG3 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSG3 Gene

ENSEMBL:
Gene Tree for DSG3 (if available)
TreeFam:
Gene Tree for DSG3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSG3: view image

Paralogs for DSG3 Gene

Paralogs for DSG3 Gene

(6) SIMAP similar genes for DSG3 Gene using alignment to 1 proteins:

  • DSG3_HUMAN
genes like me logo Genes that share paralogs with DSG3: view

Variants for DSG3 Gene

Sequence variations from dbSNP and Humsavar for DSG3 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000025261 -- 31,453,405(+) A/G intron_variant
rs1000136064 -- 31,477,705(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000164967 -- 31,453,506(+) A/C intron_variant
rs1000374960 -- 31,477,994(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000401557 -- 31,457,028(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DSG3 Gene

Variant ID Type Subtype PubMed ID
dgv3328n100 CNV gain 25217958
dgv5882n54 CNV gain 21841781
dgv975e212 CNV gain 25503493
esv2656541 CNV deletion 23128226
esv2751776 CNV gain 17911159
esv3642128 CNV loss 21293372
esv3642129 CNV loss 21293372
nsv437177 CNV loss 16327808
nsv438278 CNV loss 16468122
nsv458045 CNV gain 19166990
nsv524890 CNV gain 19592680
nsv833615 CNV gain 17160897

Variation tolerance for DSG3 Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSG3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSG3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSG3 Gene

Disorders for DSG3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for DSG3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pemphigus vulgaris
  • pemphigus vulgaris, familial
pemphigus
herpetiform pemphigus
skin disease
  • genodermatosis
bullous skin disease
  • skin diseases bullous
- elite association - COSMIC cancer census association via MalaCards
Search DSG3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DSG3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DSG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSG3 Gene

Publications for DSG3 Gene

  1. The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18. (PMID: 1601426) Arnemann J … Buxton RS (Human genetics 1992) 2 3 22 58
  2. Peptides Targeting the Desmoglein 3 Adhesive Interface Prevent Autoantibody-induced Acantholysis in Pemphigus. (PMID: 19164289) Heupel WM … Waschke J (The Journal of biological chemistry 2009) 3 22 58
  3. Low to high Ca2+ -switch causes phosphorylation and association of desmocollin 3 with plakoglobin and desmoglein 3 in cultured keratinocytes. (PMID: 19348003) Aoyama Y … Kitajima Y (Experimental dermatology 2009) 3 22 58
  4. The role of desmoglein-3 in the diagnosis of squamous cell carcinoma of the lung. (PMID: 19342368) Savci-Heijink CD … Vasmatzis G (The American journal of pathology 2009) 3 22 58
  5. Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris. (PMID: 19678820) Capon F … Harman KE (The British journal of dermatology 2009) 3 22 58

Products for DSG3 Gene

Sources for DSG3 Gene

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