U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DSG4 desmoglein 4 [ Homo sapiens (human) ]

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
desmoglein-4
Names
cadherin family member 13

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous