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    DSG3 desmoglein 3 [ Homo sapiens (human) ]

    Gene ID: 1830, updated on 28-Oct-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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 
    enables protein dimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    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)

    NEW Try the new Transcript table

    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