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DSG3 desmoglein 3 [ Homo sapiens (human) ]

Gene ID: 1830, updated on 5-Mar-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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Location:
18q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31447741..31478702)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31638285..31669222)
105.20220307 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
  • 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. Cytoskeletal anchorage of different Dsg3 pools revealed by combination of hybrid STED/SMFS-AFM. Fuchs M, et al. Cell Mol Life Sci, 2023 Jan 5. PMID 36602635, Free PMC Article
  2. Desmoglein 3 (Dsg3) expression in cancer: A tissue microarray study on 15,869 tumors. Viehweger F, et al. Pathol Res Pract, 2022 Dec. PMID 36375372
  3. Analysis of the Specificity of Auto-Reactive Antibodies to Individual Fragments of the Extracellular Domain of Desmoglein 3 in Patients with Pemphigus Vulgaris. Kubanov AA, et al. Bull Exp Biol Med, 2021 Aug. PMID 34542752
  4. Keratin Retraction and Desmoglein3 Internalization Independently Contribute to Autoantibody-Induced Cell Dissociation in Pemphigus Vulgaris. Schlögl E, et al. Front Immunol, 2018. PMID 29922278, Free PMC Article
  5. Desmoglein 3 Order and Dynamics in Desmosomes Determined by Fluorescence Polarization Microscopy. Bartle EI, et al. Biophys J, 2017 Dec 5. PMID 29212005, Free PMC Article

See all (119) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. A potential link between desmoglein 3 and epidermal growth factor receptor in oral squamous cell carcinoma and its effect on cetuximab treatment efficacy.
    Title: A potential link between desmoglein 3 and epidermal growth factor receptor in oral squamous cell carcinoma and its effect on cetuximab treatment efficacy.
Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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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)

Genotypes

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 
Process Evidence Code Pubs
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cornified envelope TAS
Traceable Author Statement
more info
  
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 TAS
Traceable Author Statement
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_2023_10

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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