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    DSG4 desmoglein 4 [ Homo sapiens (human) ]

    Gene ID: 147409, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DSG4provided by HGNC
    Official Full Name
    desmoglein 4provided by HGNC
    Primary source
    HGNC:HGNC:21307
    See related
    Ensembl:ENSG00000175065 MIM:607892; AllianceGenome:HGNC:21307
    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; HYPT6; CDGF13; CDHF13
    Summary
    This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of 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 monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31376777..31414909)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31567308..31605438)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28956740..28994872)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904346 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28881307-28881808 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28909706-28910228 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 ATAC-STARR-seq lymphoblastoid silent region 9383 Neighboring gene desmoglein 3 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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families. Zhou C, et al. Mol Genet Genomic Med, 2022 Apr. PMID 35146972, Free PMC Article
    2. Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans. Cohen-Barak E, et al. Acta Derm Venereol, 2018 Aug 29. PMID 29796690
    3. Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. Wang JM, et al. Int J Dermatol, 2015 Oct. PMID 26173648
    4. An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response. Kato M, et al. J Invest Dermatol, 2015 May. PMID 25615553
    5. A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. Ullah A, et al. Clin Exp Dermatol, 2015 Jan. PMID 25251037

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.
      Title: Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.
    2. Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.
      Title: Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.
    3. Case Report: autosomal recessive keratosis pilaris atrophicans caused by mutation in DSG4.
      Title: Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.
    4. This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair.
      Title: A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
    5. 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.
    6. 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].
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypotrichosis 6
    MedGen: C1842839 OMIM: 607903 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
    		  
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    desmoglein-4
    Names
    cadherin family member 13

    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_001134453.3 → NP_001127925.1  desmoglein-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001127925.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon and uses an alternate in-frame splice site, both in the 3' coding region, compared to variant 2. The encoded isoform (1) is longer than isoform 2, but may undergo proteolytic processing similar to isoform 2.
      Source sequence(s)
      AC021549, AY168788, AY177664, BC039098, BC132907
      Consensus CDS
      CCDS45845.1
      UniProtKB/Swiss-Prot
      Q86SJ6
      Related
      ENSP00000352785.4, ENST00000359747.4
      Conserved Domains (3) summary
      cd11304
      Location:161 → 265
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:75 → 155
      CA; Cadherin repeats
      pfam01049
      Location:810 → 865
      Cadherin_C; Cadherin cytoplasmic region

    2. NM_177986.5 → NP_817123.1  desmoglein-4 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_817123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter isoform (2).
      Source sequence(s)
      AC021549, AY177664, BC039098
      Consensus CDS
      CCDS11897.1
      UniProtKB/Swiss-Prot
      A2RUI1, Q6Y9L9, Q86SJ6, Q8IXV4
      Related
      ENSP00000311859.4, ENST00000308128.9
      Conserved Domains (3) summary
      cd11304
      Location:161 → 265
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:75 → 155
      CA; Cadherin repeats
      pfam01049
      Location:791 → 846
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      31376777..31414909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31567308..31605438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86SJ6.1 GenPept UniProtKB/Swiss-Prot:Q86SJ6

    Gene LinkOut

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

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