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 pre... See more...

Aliases for DSG3 Gene

Aliases for DSG3 Gene

  • Desmoglein 3 2 3 5
  • CDHF6 2 3 4
  • 130 KDa Pemphigus Vulgaris Antigen 3 4
  • Cadherin Family Member 6 3 4
  • Desmoglein-3 3 4
  • PVA 3 4
  • Desmoglein 3 (Pemphigus Vulgaris Antigen) 2
  • Pemphigus Vulgaris Antigen 2
  • DSG3 5

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 and Pemphigus Vulgaris, Familial. Among its related pathways are Apoptotic cleavage of cellular proteins and Developmental Biology. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG4.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSG3 Gene

Genomics for DSG3 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 264.1 +3.8 3807 9.4 EP300 STAT3 FOSL1 JUND NFE2 CEBPB PKNOX1 MAFK FOS PRDM10 DSG3 DSG1-AS1 DSG2 DSC3 ENSG00000266521
GH18J031202 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.5 -241.8 -241831 7.4 BCL11A FEZF1 CEBPA IKZF1 ZEB1 CTCF ZIC2 ZNF610 ZNF639 VEZF1 HSALNG0120721-001 HSALNG0120721-002 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120722
GH18J031485 Enhancer 1.4 VISTA Ensembl ENCODE dbSUPER 0.3 +41.0 41028 6.5 BCL11A IKZF1 FOXA2 MAX TRIM22 EP300 PRDM1 FOSL1 JUND BHLHE40 ENSG00000266521 DSG1-AS1 DSG2 DSG3
GH18J031419 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.3 -28.0 -28018 1.4 FOSL1 CBFA2T2 CTCF CBFA2T3 DSG1-AS1 DSG3 ENSG00000207240 DSG4
GH18J031399 Enhancer 0.9 Ensembl ENCODE 0.3 -47.0 -46967 3.5 FEZF1 KDM6A FOXA2 SMAD4 SAP130 RXRA RARA BCL6 JUND TBP RNU6-167P DSG1 DSC2 DSG1-AS1 ENSG00000207240 DSG4 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSG3

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

Genomic Locations for DSG3 Gene

Latest Assembly
chr18:31,447,741-31,478,712
(GRCh38/hg38)
Size:
30,972 bases
Orientation:
Plus strand

Previous Assembly
chr18:29,027,704-29,058,665
(GRCh37/hg19 by Entrez Gene)
Size:
30,962 bases
Orientation:
Plus strand

chr18:29,027,758-29,058,665
(GRCh37/hg19 by Ensembl)
Size:
30,908 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 Asn110, Asn180, Asn459, Asn545, Thr601, and Thr602
  • 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

Protein Domains for DSG3 Gene

InterPro:
Blocks:
  • Cadherin
  • Desmosomal cadherin signature
  • Desmoglein signature
ProtoNet:

Suggested Antigen Peptide Sequences for DSG3 Gene

GenScript: Design optimal peptide antigens:
  • Cadherin family member 6 (DSG3_HUMAN)

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 IBA 21873635
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>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSG3

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
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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:0005911 cell-cell junction IBA 21873635
GO:0016020 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 --
GO:0098609 cell-cell adhesion IBA 21873635
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 Nutra 6876
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

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSG3

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

No ASD Table

Relevant External Links for DSG3 Gene

GeneLoc Exon Structure for
DSG3

Expression for DSG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
  • Skin(3.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with DSG3: view

Primer products for research

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 30 31
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DSG3 30 31
  • 85.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DSG3 30 31
  • 81.44 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dsg3 30 17 31
  • 78.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dsg3 30
  • 77.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia DSG3 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DSG3 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 39 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 40 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii dsg2l 31
  • 30 (a)
ManyToMany
si:ch73-74h11.1 31
  • 24 (a)
ManyToMany
CABZ01055869.1 31
  • 20 (a)
ManyToMany
Species where no ortholog for DSG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSG3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs150764801 Benign: not provided 31,459,983(+) G/T
NM_001944.3(DSG3):c.656G>T (p.Arg219Leu)
MISSENSE
rs1870642 Benign: not provided 31,460,006(+) C/A
NM_001944.3(DSG3):c.679C>A (p.Arg227=)
SYNONYMOUS
rs200747593 Benign: not provided 31,475,741(+) T/C
NM_001944.3(DSG3):c.2481T>C (p.Pro827=)
SYNONYMOUS
rs61730311 Benign: not provided 31,469,175(+) C/T
NM_001944.3(DSG3):c.1723C>T (p.Arg575Trp)
MISSENSE
rs61730312 Benign: not provided 31,474,227(+) C/T
NM_001944.3(DSG3):c.2208C>T (p.Gly736=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSG3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for DSG3 Gene

MalaCards: The human disease database

(33) MalaCards diseases for DSG3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pemphigus
pemphigus vulgaris, familial
  • pemphigus vulgaris
pemphigus foliaceus
  • pf
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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  3. 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 23
  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 23
  5. 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 23

Products for DSG3 Gene

Sources for DSG3 Gene