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    DSG4 desmoglein 4 [ Homo sapiens (human) ]

    Gene ID: 147409, updated on 22-May-2013
    Official Symbol
    DSG4provided by HGNC
    Official Full Name
    desmoglein 4provided by HGNC
    Primary source
    HGNC:21307
    See related
    Ensembl:ENSG00000175065; HPRD:06387; MIM:607892; Vega:OTTHUMG00000131979
    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
    LAH; CDGF13; CDHF13
    Summary
    This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Location :
    18q12.1
    Sequence :
    Chromosome: 18; NC_000018.9 (28956740..28993880)
    See DSG4 in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene desmocollin 1 Neighboring gene desmoglein 1 Neighboring gene desmoglein 3 Neighboring gene uncharacterized LOC100652770 Neighboring gene desmoglein 2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Desmoglein as a target in skin disease and beyond. Amagai M, et al. J Invest Dermatol, 2012 Mar. PMID 22189787.
    2. Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. Bazzi H, et al. Differentiation, 2009 Dec. PMID 19683850.
    3. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. Wajid M, et al. J Invest Dermatol, 2007 Jul. PMID 17392831.
    4. [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris]. Li W, et al. Sichuan Da Xue Xue Bao Yi Xue Ban, 2007 Jan. PMID 17294735.
    5. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. Zlotogorski A, et al. J Invest Dermatol, 2006 Jun. PMID 16575393.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Genetic analysis of striate palmoplantar keratoderma and hypotrichosis identified their responsible genes as desmogleins 1 and 4, respectively.
      Title: Desmoglein as a target in skin disease and beyond.
    2. Epitopes of Dsg4 may play a role in the pathogenesis of pemphigus vulgaris .
      Title: [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris].
    3. show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.
      Title: Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.
    4. The DSG4 protein is expressed in the more highly differentiated layers of the epidermis.
      Title: Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle.
    5. The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse. We also show that DSG4 is an autoantigen in pemphigus vulgaris.
      Title: Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
    6. the human desmoglein 4 gene (DSG4) demonstrates that it is composed of 16 exons spanning approximately 37 kb of 18q12 and is situated between DSG1 and DSG3.
      Title: Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.
    7. DSG4 is pathogenic in pemphigus and staphylococcal scalded skin syndrome.
      Title: Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome.
    8. identification of a single nucleotide deletion within exon 3 of DSG4, designated 87delG in a Pakistani family with localized autosomal recessive hypotrichosis; this results in a frameshift and premature termination codon 162 bp downstream of the deletion
      Title: Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
    9. A large, intragenic deletion in the desmoglein 4 gene (DSG4) is the underlying mutation in an autosomal recessive form of hypotrichosis.
      Title: Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    anagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    homophilic cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    desmosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    desmoglein-4
    Names
    desmoglein-4
    CDH family member 13
    cadherin family member 13

    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.

    Genomic

    1. NG_013040.1 RefSeqGene

      Range
      5001..42141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134453.1 → NP_001127925.1  desmoglein-4 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a longer protein isoform (1).
      Source sequence(s)
      AY168788, AY177664, BC132907
      Consensus CDS
      CCDS45845.1
      UniProtKB/Swiss-Prot
      Q86SJ6
      Conserved Domains (2) summary
      pfam01049
      Location:810 – 866
      Blast Score: 119
      Cadherin_C; Cadherin cytoplasmic region
      cd11304
      Location:161 – 265
      Blast Score: 240
      Cadherin_repeat; Cadherin tandem repeat domain.

    2. NM_177986.3 → NP_817123.1  desmoglein-4 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an additional exon and uses an alternate splice acceptor site located in the penultimate exon, compared to variant 1, resulting in a shorter protein isoform (2).
      Source sequence(s)
      AC021549, AY177664
      Consensus CDS
      CCDS11897.1
      UniProtKB/Swiss-Prot
      Q86SJ6
      Related
      ENSP00000311859, OTTHUMP00000162820, ENST00000308128, OTTHUMT00000254941
      Conserved Domains (2) summary
      pfam01049
      Location:791 – 847
      Blast Score: 119
      Cadherin_C; Cadherin cytoplasmic region
      cd11304
      Location:161 – 265
      Blast Score: 238
      Cadherin_repeat; Cadherin tandem repeat domain.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p10 Primary Assembly

      Range
      28956740..28993880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      25812756..25849925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018929.1 Alternate CHM1_1.0

      Range
      28948984..28986123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01022513.1 (5840..31529) None
    genomic ABBA01022514.1 None
    genomic AC021549.9 (95753..132892) None
    genomic AMYH01008924.1 (11937..49076) None
    genomic AY177663.1 AAO47077.1
    genomic CH471088.1 EAX01256.1
      EAX01257.1
    genomic CS223437.1 CAJ46939.1
    genomic HH935352.1 CBX36877.1
    genomic HI939082.1 CBY79749.1
    genomic HI939195.1 CBY79768.1
    genomic HI939308.1 CBY79787.1
    genomic HI987378.1 CBY88743.1
    genomic HI988533.1 CBY88771.1
    genomic HI988646.1 CBY88790.1
    genomic JA032901.1 CCA61679.1
    genomic JA033108.1 CCA61698.1
    genomic JA033709.1 CCA61717.1
    genomic JA142931.1 CCA64044.1
    genomic JA188682.1 CCA64165.1
    genomic JA188795.1 CCA64184.1
    genomic JA282369.1 CCA65394.1
    genomic JA288834.1 CCA65425.1
    genomic JA421468.1 CCD32754.1
    mRNA AY168788.1 AAO43657.1
    mRNA AY177664.1 AAO47078.1
    mRNA AY227350.1 AAP45000.1
    mRNA AY228236.1 AAP49811.1
    mRNA BC039098.1 AAH39098.1
    mRNA BC132907.1 AAI32908.1
    mRNA BC132909.1 AAI32910.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86SJ6.1 GenPept UniProtKB/Swiss-Prot:Q86SJ6

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      Supplemental Content

      Table of contents

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      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).

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