DSG3 desmoglein 3 [Homo sapiens (human)] - Gene

Summary

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

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH76240 (e-PCR)
- UniSTS:87304

G31539 (e-PCR)
- UniSTS:30995

DSG3__4783 (e-PCR)
- UniSTS:462883

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

D11S3114 (e-PCR)
- UniSTS:152207

GDB:189554 (e-PCR)
- UniSTS:155592

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 more info	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)

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

31447741..31478702

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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