Desmoglein-4

Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene.

DSG4
Identifiers
Aliases	DSG4, CDGF13, CDHF13, HYPT6, LAH, desmoglein 4
External IDs	OMIM: 607892; MGI: 2661061; HomoloGene: 65341; GeneCards: DSG4; OMA:DSG4 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q12.1 Start 31,376,777 bp End 31,414,912 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 A2|18 11.35 cM Start 20,569,232 bp End 20,604,878 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle mucosa of esophagus gonad duodenum skin of abdomen rectum vagina skin of leg head mouth Top expressed in lip zone of skin ileum jejunum placenta More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding metal ion binding Cellular component integral component of membrane cell junction desmosome membrane cornified envelope plasma membrane cell-cell junction Biological process hair follicle development cell adhesion BMP signaling pathway keratinocyte differentiation homophilic cell adhesion via plasma membrane adhesion molecules keratinization cornification cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 147409 16769 Ensembl ENSG00000175065 ENSMUSG00000001804 UniProt Q86SJ6 Q7TMD7 RefSeq (mRNA) NM_001134453 NM_177986 NM_181564 RefSeq (protein) NP_001127925 NP_817123 NP_853543 Location (UCSC) Chr 18: 31.38 – 31.41 Mb Chr 18: 20.57 – 20.6 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

See also

• List of conditions caused by problems with junctional proteins

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kljuic A, Bazzi H, Sundberg JP, et al. (2003). "Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris". Cell. 113 (2): 249–60. doi:10.1016/S0092-8674(03)00273-3. PMID 12705872. S2CID 15131587.
• Rafiq MA, Ansar M, Mahmood S, et al. (2004). "A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis". J. Invest. Dermatol. 123 (1): 247–8. doi:10.1111/j.0022-202X.2004.22715.x. PMC 6157275. PMID 15191570.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Nagasaka T, Nishifuji K, Ota T, et al. (2004). "Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome". J. Clin. Invest. 114 (10): 1484–92. doi:10.1172/JCI20480. PMC 525737. PMID 15545999.
• Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2006). "Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats". Journal of Investigative Dermatology Symposium Proceedings. 10 (3): 222–4. doi:10.1111/j.1087-0024.2005.10110.x. PMID 16382669.
• Bazzi H, Getz A, Mahoney MG, et al. (2006). "Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle". Differentiation. 74 (2–3): 129–40. doi:10.1111/j.1432-0436.2006.00061.x. PMID 16533311.
• Wajid M, Bazzi H, Rockey J, et al. (2007). "Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family". J. Invest. Dermatol. 127 (7): 1779–82. doi:10.1038/sj.jid.5700791. PMID 17392831.