Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 147409
MIM: 607892
HGNC: 21307
Ensembl: ENSG00000175065
Variants:
dbSNP: 147409
ClinVar: 147409
TCGA: ENSG00000175065
COSMIC: DSG4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000175065 | ENST00000308128 | Q86SJ6 |
| ENSG00000175065 | ENST00000359747 | Q86SJ6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
| Formation of the cornified envelope | REACTOME | R-HSA-6809371 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35146972 | 2022 | Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families. | 4 |
| 35146972 | 2022 | Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families. | 4 |
| 33995349 | 2021 | Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4. | 4 |
| 33995349 | 2021 | Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4. | 4 |
| 29796690 | 2018 | Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans. | 2 |
| 29796690 | 2018 | Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans. | 2 |
| 25251037 | 2015 | A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. | 10 |
| 25251037 | 2015 | A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. | 10 |
| 22189787 | 2012 | Desmoglein as a target in skin disease and beyond. | 73 |
| 22189787 | 2012 | Desmoglein as a target in skin disease and beyond. | 73 |
| 19683850 | 2009 | Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. | 12 |
| 19683850 | 2009 | Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. | 12 |
| 17294735 | 2007 | [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris]. | 0 |
| 17392831 | 2007 | Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. | 8 |
| 17294735 | 2007 | [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris]. | 0 |
Citation
Dessen P
DSG4 (desmoglein 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62659/dsg4-(desmoglein-4)
