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Aliases for DSG4 Gene

Aliases for DSG4 Gene

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

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 Monilethrix. Among its related pathways are Keratinization and Developmental Biology. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG3.

UniProtKB/Swiss-Prot 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

Additional gene information for DSG4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSG4 Gene

Genomics for DSG4 Gene

Regulatory Elements for DSG4 Gene

Enhancers for DSG4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H031363 0.4 FANTOM5 0.4 -13.4 -13420 0 ZNF384 DSG1 DSG4 GC18M031346 RNU6-167P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSG4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DSG4 Gene

Genomic Locations for DSG4 Gene
chr18:31,376,777-31,415,791
(GRCh38/hg38)
Size:
39,015 bases
Orientation:
Plus strand
chr18:28,956,740-28,994,875
(GRCh37/hg19)

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 isoforms=2110 and posLast=545545
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG4 Gene

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

Suggested Antigen Peptide Sequences for DSG4 Gene

GenScript: Design optimal peptide antigens:

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).

Gene Ontology (GO) - Molecular Function for DSG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
endoplasmic reticulum 1
lysosome 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction 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

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

Pathways by source for DSG4 Gene

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:0016337 single organismal cell-cell adhesion IEA --
GO:0030216 keratinocyte differentiation IEA --
genes like me logo Genes that share ontologies with DSG4: view

No data available for SIGNOR curated interactions for DSG4 Gene

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 0
genes like me logo Genes that share compounds with DSG4: view

Transcripts for DSG4 Gene

mRNA/cDNA for DSG4 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DSG4 Gene

Desmoglein 4:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
DSG4

Expression for DSG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DSG4 Gene



Protein tissue co-expression partners for DSG4 Gene

NURSA nuclear receptor signaling pathways regulating expression of DSG4 Gene:

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(4.4)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
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

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 33 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia DSG4 33 34
  • 86.65 (n)
cow
(Bos Taurus)
Mammalia DSG4 33 34
  • 84.57 (n)
mouse
(Mus musculus)
Mammalia Dsg4 33 16 34
  • 82.93 (n)
rat
(Rattus norvegicus)
Mammalia Dsg4 33
  • 80.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DSG4 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSG4 33
  • 60.56 (n)
-- 34
  • 45 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dsg4 33
  • 53.52 (n)
zebrafish
(Danio rerio)
Actinopterygii dsg2l 34
  • 28 (a)
ManyToMany
si:ch73-74h11.1 34
  • 24 (a)
ManyToMany
CABZ01055869.1 34
  • 20 (a)
ManyToMany
Species where no ortholog for DSG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DSG4 Gene

Paralogs for DSG4 Gene

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

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

Variants for DSG4 Gene

Sequence variations from dbSNP and Humsavar for DSG4 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs267606775 Pathogenic 31,390,712(+) TGAAT(A/C/T)CTAAA intron-variant, reference, missense
rs267606776 Pathogenic 31,391,193(+) TTTCC(C/G)CACCT intron-variant, reference, missense
rs267606777 Pathogenic 31,392,200(+) TGATA(C/T)GATTA intron-variant, reference, stop-gained
rs786200875 Pathogenic 31,409,556(+) GCAGT(-/T)CTTGG intron-variant, reference, frameshift-variant
rs36101975 Likely benign 31,376,941(+) ATTTG(C/T)CTTTT intron-variant, reference, synonymous-codon

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

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

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)

Relevant External Links for DSG4 Gene

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

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

Disorders for DSG4 Gene

MalaCards: The human disease database

(18) MalaCards diseases for DSG4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis 6
  • autosomal recessive localized hypotrichosis
monilethrix
  • nodose hair
hypotrichosis simplex
  • hhs
pemphigus vulgaris
  • pemphigus vulgaris, familial
hypotrichosis
- 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. {ECO:0000269 PubMed:15191570}. Note=The disease is caused by mutations 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.

Relevant External Links for DSG4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. (PMID: 19683850) Bazzi H … Christiano AM (Differentiation; research in biological diversity 2009) 3 22 60
  3. [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris]. (PMID: 17294735) Li W … Ran YP (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2007) 3 22 60
  4. 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 60
  5. 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 60

Products for DSG4 Gene

Sources for DSG4 Gene

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