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DSG3 desmoglein 3 [ Homo sapiens (human) ]

Gene ID: 1830, updated on 5-Jul-2025
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
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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
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
 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
located_in cornified envelope TAS
Traceable Author Statement
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
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 desmosome IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
desmoglein-3
Names
130 kDa pemphigus vulgaris antigen
cadherin family member 6

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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_001944.3NP_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:165263
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:82155
    CA; Cadherin repeats
    pfam00028
    Location:272375
    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_011525850.3XP_011524152.1  desmoglein-3 isoform X1

    Conserved Domains (3) summary
    cd11304
    Location:165263
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:82155
    CA; Cadherin repeats
    pfam00028
    Location:272375
    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_054318238.1XP_054174213.1  desmoglein-3 isoform X1