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DSG3 desmoglein 3 [ Homo sapiens (human) ]

Gene ID: 1830, updated on 22-Sep-2022

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
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Genomic context

See DSG3 in Genome Data Viewer
Location:
18q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31447741..31478702)
110 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 RNA, U6 small nuclear 167, pseudogene Neighboring gene DSG1 antisense RNA 1 Neighboring gene desmoglein 4 Neighboring gene VISTA enhancer hs2166 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in extracellular exosome HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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_001944.3NP_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)