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Aliases for DSG3 Gene

Aliases for DSG3 Gene

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

  • Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 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 protein has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris. [provided by RefSeq, Jul 2008]

GeneCards Summary for DSG3 Gene

DSG3 (Desmoglein 3) is a Protein Coding gene. Diseases associated with DSG3 include pemphigus vegetans and pemphigus erythematosus. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Apoptotic cleavage of cellular proteins. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH13.

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

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

Genomics for DSG3 Gene

Regulatory Elements for DSG3 Gene

Genomic Location for DSG3 Gene

Start:
31,447,769 bp from pter
End:
31,478,702 bp from pter
Size:
30,934 bases
Orientation:
Plus strand

Genomic View for DSG3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

neXtProt entry for DSG3 Gene

Proteomics data for DSG3 Gene at MOPED

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:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DSG3 Gene

Domains for DSG3 Gene

Gene Families for DSG3 Gene

HGNC:
  • MCDH :Cadherins / Major cadherins

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 :
  • P32926
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 DSG3: view

Function for DSG3 Gene

Molecular function for DSG3 Gene

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
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 DSG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium 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:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSG3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for DSG3 Gene COMPARTMENTS Subcellular localization image for DSG3 gene
Compartment Confidence
plasma membrane 5
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DSG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction --
genes like me logo Genes that share ontologies with DSG3: view

Pathways for DSG3 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for DSG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0012501 programmed cell death TAS --
genes like me logo Genes that share ontologies with DSG3: view

Compounds for DSG3 Gene

(1) HMDB Compounds for DSG3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(7) Novoseek inferred chemical compound relationships for DSG3 Gene

Compound -log(P) Hits PubMed IDs
ivig 57.7 6
toxin a 39.4 2
prednisolone 18.7 2
serine 6.91 3
calcium 0 17
genes like me logo Genes that share compounds with DSG3: view

Transcripts for DSG3 Gene

mRNA/cDNA for DSG3 Gene

Unigene Clusters for DSG3 Gene

Desmoglein 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSG3

Primer Products

Flow Cytometry 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 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 (25.1), Vagina (8.3), Minor Salivary Gland (7.3), and Cervix - Ectocervix (5.7).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for DSG3 Gene

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

Expression partners for DSG3 Gene

In Situ Assay Products

Orthologs for DSG3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSG3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DSG3 35
  • 81.44 (n)
  • 77.95 (a)
DSG3 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSG3 35
  • 85.08 (n)
  • 81.25 (a)
DSG3 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsg3 35
  • 78.14 (n)
  • 75.23 (a)
Dsg3 16
Dsg3 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSG3 35
  • 99.4 (n)
  • 99.2 (a)
DSG3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsg3 35
  • 77.33 (n)
  • 74.69 (a)
oppossum
(Monodelphis domestica)
Mammalia DSG3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSG3 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01055869.1 36
  • 20 (a)
ManyToMany
dsg2l 36
  • 30 (a)
ManyToMany
si:ch73-74h11.1 36
  • 24 (a)
ManyToMany
Species with no ortholog for DSG3:
  • 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)

Paralogs for DSG3 Gene

Paralogs for DSG3 Gene

Selected SIMAP similar genes for DSG3 Gene using alignment to 1 proteins:

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 Sequence Context AA Info Type MAF
rs1380866 - 31,475,994(+) TGTCC(A/G)CCTCT reference, missense
rs1460595 -- 31,465,294(+) AAACT(A/G)ATTTT intron-variant
rs1460598 -- 31,448,528(+) TTTCA(A/C/G)AAAAG intron-variant
rs1460601 -- 31,448,914(+) TTGTT(G/T)TTGTT intron-variant
rs1466379 -- 31,476,502(+) CCTAA(A/G)ATCAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv524890 CNV Gain 19592680
nsv458045 CNV Gain 19166990
esv2751776 CNV Gain 17911159
nsv833615 CNV Gain 17160897
nsv909518 CNV Loss 21882294
nsv437177 CNV Loss 16327808
esv2656541 CNV Deletion 23128226
nsv438278 CNV Loss 16468122

Relevant External Links for DSG3 Gene

HapMap Linkage Disequilibrium report
DSG3

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

Disorders for DSG3 Gene

(2) University of Copenhagen DISEASES for DSG3 Gene

(25) Novoseek inferred disease relationships for DSG3 Gene

Disease -log(P) Hits PubMed IDs
pemphigus vulgaris 98.5 160
pemphigus 97.2 80
pemphigus foliaceus 96.6 49
acantholysis 95.1 27
skin diseases bullous 85.2 5

Relevant External Links for DSG3

Genetic Association Database (GAD)
DSG3
Human Genome Epidemiology (HuGE) Navigator
DSG3
genes like me logo Genes that share disorders with DSG3: view

No data available for OMIM , 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 R.S. (Hum. Genet. 1992) 2 3 23
  2. Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion. (PMID: 1720352) Amagai M. … Stanley J.R. (Cell 1991) 3 4 23
  3. Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris. (PMID: 16403096) Capon F. … Harman K.E. (Br. J. Dermatol. 2006) 3 23 48
  4. Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation. (PMID: 12485422) Hanakawa Y. … Hashimoto K. (J. Invest. Dermatol. 2002) 3 23
  5. IgG reactivity against non-conformational NH-terminal epitopes of the desmoglein 3 ectodomain relates to clinical activity and phenotype of pemphigus vulgaris. (PMID: 16842599) MA1ller R. … Hertl M. (Exp. Dermatol. 2006) 3 23

Products for DSG3 Gene

Sources for DSG3 Gene

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