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    DSG3 desmoglein 3 [ Homo sapiens (human) ]

    Gene ID: 1830, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DSG3provided by HGNC
    Official Full Name
    desmoglein 3provided by HGNC
    Primary source
    HGNC:HGNC:3050
    See related
    Ensembl:ENSG00000134757 MIM:169615; AllianceGenome:HGNC:3050
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PVA; ABOLM; CDHF6
    Summary
    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]
    Expression
    Restricted expression toward esophagus (RPKM 200.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See DSG3 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31447741..31478702)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31638285..31669222)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29027704..29058665)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:28933613-28934812 Neighboring gene RNA, U6 small nuclear 167, pseudogene Neighboring gene DSG1 antisense RNA 1 Neighboring gene MPRA-validated peak3094 silencer Neighboring gene desmoglein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9383 Neighboring gene VISTA enhancer hs2166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13199 Neighboring gene NANOG hESC enhancer GRCh37_chr18:29096289-29096832 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1 Neighboring gene uncharacterized LOC124904277 Neighboring gene transthyretin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. RNAi-mediated inhibition of the desmosomal cadherin (desmoglein 3) impairs epithelial cell proliferation. Mannan T, et al. Cell Prolif, 2011 Aug. PMID 21702856, Free PMC Article
    2. IgG against extracellular subdomains of desmoglein 3 relates to clinical phenotype of pemphigus vulgaris. Müller R, et al. Exp Dermatol, 2008 Jan. PMID 18095943
    3. Pemphigus vulgaris IgG-induced desmoglein-3 endocytosis and desmosomal disassembly are mediated by a clathrin- and dynamin-independent mechanism. Delva E, et al. J Biol Chem, 2008 Jun 27. PMID 18434319, Free PMC Article
    4. Cleavage of desmoglein 3 can explain its depletion from keratinocytes in pemphigus vulgaris. Cirillo N, et al. Exp Dermatol, 2008 Oct. PMID 18505410
    5. Genetic characterization of human Dsg3-specific B cells isolated by flow cytometry from the peripheral blood of patients with pemphigus vulgaris. Yamagami J, et al. J Dermatol Sci, 2008 Nov. PMID 18586466

    See all (126) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutant TP53 promotes invasion of lung cancer cells by regulating desmoglein 3.
      Title: Mutant TP53 promotes invasion of lung cancer cells by regulating desmoglein 3.
    2. Type 2 T-Cell Responses against Distinct Epitopes of the Desmoglein 3 Ectodomain in Pemphigus Vulgaris.
      Title: Type 2 T-Cell Responses against Distinct Epitopes of the Desmoglein 3 Ectodomain in Pemphigus Vulgaris.
    3. Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.
      Title: Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.
    4. Interleukin-37 inhibits desmoglein-3 endocytosis and keratinocyte dissociation via upregulation of Caveolin-1 and inhibition of the STAT3 pathway.
      Title: Interleukin-37 inhibits desmoglein-3 endocytosis and keratinocyte dissociation via upregulation of Caveolin-1 and inhibition of the STAT3 pathway.
    5. Cytoskeletal anchorage of different Dsg3 pools revealed by combination of hybrid STED/SMFS-AFM.
      Title: Cytoskeletal anchorage of different Dsg3 pools revealed by combination of hybrid STED/SMFS-AFM.
    6. Desmoglein 3 (Dsg3) expression in cancer: A tissue microarray study on 15,869 tumors.
      Title: Desmoglein 3 (Dsg3) expression in cancer: A tissue microarray study on 15,869 tumors.
    7. Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin.
      Title: Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin.
    8. Desmoglein-3 induces YAP phosphorylation and inactivation during collective migration of oral carcinoma cells.
      Title: Desmoglein-3 induces YAP phosphorylation and inactivation during collective migration of oral carcinoma cells.
    9. Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.
      Title: Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.
    10. Analysis of the Specificity of Auto-Reactive Antibodies to Individual Fragments of the Extracellular Domain of Desmoglein 3 in Patients with Pemphigus Vulgaris.
      Title: Analysis of the Specificity of Auto-Reactive Antibodies to Individual Fragments of the Extracellular Domain of Desmoglein 3 in Patients with Pemphigus Vulgaris.
    Submit: New GeneRIF Correction See all GeneRIFs (84)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Blistering, acantholytic, of oral and laryngeal mucosa
    MedGen: C5543184 OMIM: 619226 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genomewide association study for onset age in Parkinson disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686P23184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in adherens junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in desmosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of p38MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of bicellular tight junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein localization to adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein localization to membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    desmoglein-3
    Names
    130 kDa pemphigus vulgaris antigen
    cadherin family member 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001944.3 → NP_001935.2  desmoglein-3 preproprotein

      See identical proteins and their annotated locations for NP_001935.2

      Status: REVIEWED

      Source sequence(s)
      AC021549, AI608626, BC105997, BX110234, BX507120, DA447747, DA458544, M76482, U51696
      Consensus CDS
      CCDS11898.1
      UniProtKB/Swiss-Prot
      A8K2V2, P32926
      Related
      ENSP00000257189.4, ENST00000257189.5
      Conserved Domains (3) summary
      cd11304
      Location:165 → 263
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:82 → 155
      CA; Cadherin repeats
      pfam00028
      Location:272 → 375
      Cadherin; Cadherin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      31447741..31478702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525850.3 → XP_011524152.1  desmoglein-3 isoform X1

      Conserved Domains (3) summary
      cd11304
      Location:165 → 263
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:82 → 155
      CA; Cadherin repeats
      pfam00028
      Location:272 → 375
      Cadherin; Cadherin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31638285..31669222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318238.1 → XP_054174213.1  desmoglein-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32926.2 GenPept UniProtKB/Swiss-Prot:P32926

    Gene LinkOut

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