DSG4 (desmoglein 4)

2014-11-01  

Identity

HGNC
LOCATION
18q12.1
LOCUSID
ALIAS
CDGF13,CDHF13,HYPT6,LAH

Other Information

Locus ID:

NCBI: 147409
MIM: 607892
HGNC: 21307
Ensembl: ENSG00000175065

Variants:

dbSNP: 147409
ClinVar: 147409
TCGA: ENSG00000175065
COSMIC: DSG4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175065ENST00000308128Q86SJ6
ENSG00000175065ENST00000359747Q86SJ6

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127058722003Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.71
221897872012Desmoglein as a target in skin disease and beyond.52
165333112006Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle.23
126482132003Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.18
196838502009Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.10
155459992004Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome.8
252510372015A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.6
173928312007Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.5
163826692005Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.2
172947352007[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