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 monil... See more...

Aliases for DSG4 Gene

Aliases for DSG4 Gene

  • Desmoglein 4 2 3 5
  • CDHF13 2 3 4
  • Cadherin Family Member 13 3 4
  • Desmoglein-4 3 4
  • LAH 2 3
  • CDGF13 3
  • HYPT6 3
  • DSG4 5

External Ids for DSG4 Gene

Previous GeneCards Identifiers for DSG4 Gene

  • GC18P028776
  • GC18P027208
  • GC18P027210
  • GC18P028956
  • GC18P025812

Summaries for DSG4 Gene

Entrez Gene Summary for DSG4 Gene

  • 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]

GeneCards Summary for DSG4 Gene

DSG4 (Desmoglein 4) is a Protein Coding gene. Diseases associated with DSG4 include Hypotrichosis 6 and Hypotrichosis Simplex. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG3.

UniProtKB/Swiss-Prot Summary for DSG4 Gene

  • Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity).

Gene Wiki entry for DSG4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSG4 Gene

Genomics for DSG4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DSG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J031396 Enhancer 1 Ensembl ENCODE 0.4 +20.6 20579 1.9 CEBPA CHD4 YY1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA ZNF511 ENSG00000207240 DSG4 DSG1-AS1 DSG3
GH18J031399 Enhancer 0.9 Ensembl ENCODE 0.4 +24.0 23997 3.5 ZNF10 CHD4 FEZF1 FOXA2 KDM6A SMAD4 RXRA SAP130 RARA JUND RNU6-167P DSG1 DSC2 DSG1-AS1 ENSG00000207240 DSG4 DSG3
GH18J031419 Enhancer 0.7 Ensembl ENCODE dbSUPER 0.3 +42.9 42946 1.4 CBFA2T2 CTCF CBFA2T3 DSG1-AS1 DSG3 ENSG00000207240 DSG4
GH18J031353 Promoter 0.4 Ensembl 0.4 -23.2 -23176 0.8 FOXA2 piR-33432-248 piR-49322-304 piR-46002-271 piR-57176-297 DSG4 DSG1 DSG1-AS1
GH18J031427 Enhancer 0.6 Ensembl ENCODE dbSUPER 0.2 +52.4 52434 2.7 ZNF512 DSG1-AS1 DSG3 DSG4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSG4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSG4

Top Transcription factor binding sites by QIAGEN in the DSG4 gene promoter:
  • aMEF-2
  • AML1a
  • FOXI1
  • Gfi-1
  • HFH-3
  • POU6F1 (c2)
  • RORalpha1
  • TBP

Genomic Locations for DSG4 Gene

Latest Assembly
chr18:31,376,777-31,415,791
(GRCh38/hg38)
Size:
39,015 bases
Orientation:
Plus strand

Previous Assembly
chr18:28,956,740-28,994,872
(GRCh37/hg19 by Entrez Gene)
Size:
38,133 bases
Orientation:
Plus strand

chr18:28,956,740-28,994,875
(GRCh37/hg19 by Ensembl)
Size:
38,136 bases
Orientation:
Plus strand

Genomic View for DSG4 Gene

Genes around DSG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSG4 Gene

Proteins for DSG4 Gene

  • Protein details for DSG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SJ6-DSG4_HUMAN
    Recommended name:
    Desmoglein-4
    Protein Accession:
    Q86SJ6
    Secondary Accessions:
    • A2RUI1
    • Q6Y9L9
    • Q8IXV4

    Protein attributes for DSG4 Gene

    Size:
    1040 amino acids
    Molecular mass:
    113824 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DSG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSG4 Gene

Post-translational modifications for DSG4 Gene

  • Glycosylation at Asn110 and Asn545
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG4 Gene

Antibodies for research

  • Boster Bio Antibodies for DSG4
  • Santa Cruz Biotechnology (SCBT) Antibodies for DSG4

No data available for DME Specific Peptides for DSG4 Gene

Domains & Families for DSG4 Gene

Gene Families for DSG4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for DSG4 Gene

InterPro:
Blocks:
  • Cadherin
  • Desmosomal cadherin signature
  • Desmoglein signature

Suggested Antigen Peptide Sequences for DSG4 Gene

GenScript: Design optimal peptide antigens:
  • Cadherin family member 13 (DSG4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86SJ6

UniProtKB/Swiss-Prot:

DSG4_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with DSG4: view

Function for DSG4 Gene

Molecular function for DSG4 Gene

UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity).

Phenotypes From GWAS Catalog for DSG4 Gene

Gene Ontology (GO) - Molecular Function for DSG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DSG4: view
genes like me logo Genes that share phenotypes with DSG4: view

Human Phenotype Ontology for DSG4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSG4

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DSG4 Gene

Localization for DSG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSG4 Gene

Cell membrane. Single-pass type I membrane protein. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSG4 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DSG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DSG4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DSG4 Gene

Pathways & Interactions for DSG4 Gene

PathCards logo

SuperPathways for DSG4 Gene

genes like me logo Genes that share pathways with DSG4: view

Pathways by source for DSG4 Gene

SIGNOR curated interactions for DSG4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DSG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0030216 keratinocyte differentiation IEA --
GO:0030509 BMP signaling pathway IEA --
genes like me logo Genes that share ontologies with DSG4: view

Drugs & Compounds for DSG4 Gene

(1) Drugs for DSG4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with DSG4: view

Transcripts for DSG4 Gene

mRNA/cDNA for DSG4 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSG4

Alternative Splicing Database (ASD) splice patterns (SP) for DSG4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: -
SP2: -

Relevant External Links for DSG4 Gene

GeneLoc Exon Structure for
DSG4

Expression for DSG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSG4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x31.6), Vagina (x7.0), and Skin - Sun Exposed (Lower leg) (x6.3).

Protein differential expression in normal tissues from HIPED for DSG4 Gene

This gene is overexpressed in Hair follicle (58.4) and Bone marrow mesenchymal stem cell (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DSG4 Gene



Protein tissue co-expression partners for DSG4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSG4

SOURCE GeneReport for Unigene cluster for DSG4 Gene:

Hs.407618

mRNA Expression by UniProt/SwissProt for DSG4 Gene:

Q86SJ6-DSG4_HUMAN
Tissue specificity: Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex.

Evidence on tissue expression from TISSUES for DSG4 Gene

  • Skin(4.5)
  • Heart(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSG4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with DSG4: view

Primer products for research

Orthologs for DSG4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSG4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DSG4 29 30
  • 99.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DSG4 29 30
  • 86.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DSG4 29 30
  • 84.57 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dsg4 29 16 30
  • 82.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dsg4 29
  • 80.97 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DSG4 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DSG4 29
  • 60.56 (n)
-- 30
  • 45 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 46 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dsg4 29
  • 53.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii dsg2l 30
  • 28 (a)
ManyToMany
si:ch73-74h11.1 30
  • 24 (a)
ManyToMany
CABZ01055869.1 30
  • 20 (a)
ManyToMany
Species where no ortholog for DSG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DSG4 Gene

ENSEMBL:
Gene Tree for DSG4 (if available)
TreeFam:
Gene Tree for DSG4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSG4: view image
Alliance of Genome Resources:
Additional Orthologs for DSG4

Paralogs for DSG4 Gene

Paralogs for DSG4 Gene

(4) SIMAP similar genes for DSG4 Gene using alignment to 1 proteins:

  • DSG4_HUMAN
genes like me logo Genes that share paralogs with DSG4: view

Variants for DSG4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSG4 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1031751 Pathogenic: Hypotrichosis 6 31,409,482(+) GCAAA/G
NM_177986.5(DSG4):c.1967_1970del (p.Lys656fs)
FRAMESHIFT
1031752 Pathogenic: Hypotrichosis 6 31,409,583(+) G/T
NM_177986.5(DSG4):c.2065G>T (p.Glu689Ter)
NONSENSE
889236 Uncertain Significance: Hypotrichosis 6 31,376,779(+) C/T
NM_177986.5(DSG4):c.-133C>T
FIVE_PRIME_UTR
889292 Uncertain Significance: Hypotrichosis 6 31,392,265(+) C/T
NM_177986.5(DSG4):c.930C>T (p.Leu310=)
SYNONYMOUS
889353 Uncertain Significance: Hypotrichosis 6 31,406,385(+) A/G
NM_177986.5(DSG4):c.1933+12A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSG4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DSG4 Gene

Variant ID Type Subtype PubMed ID
dgv3328n100 CNV gain 25217958
dgv5882n54 CNV gain 21841781
dgv611e214 CNV loss 21293372
dgv975e212 CNV gain 25503493
esv2751776 CNV gain 17911159
esv3642125 CNV loss 21293372
esv3893085 CNV loss 25118596
nsv458045 CNV gain 19166990
nsv524890 CNV gain 19592680
nsv953528 CNV duplication 24416366

Variation tolerance for DSG4 Gene

Residual Variation Intolerance Score: 91.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSG4 Gene

Human Gene Mutation Database (HGMD)
DSG4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSG4
Leiden Open Variation Database (LOVD)
DSG4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSG4 Gene

Disorders for DSG4 Gene

MalaCards: The human disease database

(33) MalaCards diseases for DSG4 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DSG4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSG4_HUMAN
  • Hypotrichosis 6 (HYPT6) [MIM:607903]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive. {ECO:0000269 PubMed:15191570}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.

Additional Disease Information for DSG4

genes like me logo Genes that share disorders with DSG4: view

No data available for Genatlas for DSG4 Gene

Publications for DSG4 Gene

  1. Genetic evidence for a novel human desmosomal cadherin, desmoglein 4. (PMID: 12648213) Whittock NV … Bower C (The Journal of investigative dermatology 2003) 2 3 4 22
  2. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (PMID: 16575393) Zlotogorski A … Pras E (The Journal of investigative dermatology 2006) 3 22 72
  3. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (PMID: 16439973) Shimomura Y … Ito M (The Journal of investigative dermatology 2006) 3 22 72
  4. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (PMID: 16543896) Schaffer JV … Christiano AM (The Journal of investigative dermatology 2006) 3 22 72
  5. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. (PMID: 12705872) Kljuic A … Christiano AM (Cell 2003) 3 4 72

Products for DSG4 Gene

Sources for DSG4 Gene