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    DSG3 desmoglein 3 [ Homo sapiens (human) ]

    Gene ID: 1830, updated on 17-Jun-2019

    Summary

    Official Symbol
    DSG3provided by HGNC
    Official Full Name
    desmoglein 3provided by HGNC
    Primary source
    HGNC:HGNC:3050
    See related
    Ensembl:ENSG00000134757 MIM:169615
    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; 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

    Genomic context

    See DSG3 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (31447741..31478712)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29027732..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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...

    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
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    keratinization TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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)

    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
      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 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      31447741..31478712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525850.2XP_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
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