DSG4

Desmoglein 4
Identifiers
Symbols	DSG4; CDGF13; CDHF13; LAH
External IDs	OMIM: 607892 MGI: 2661061 HomoloGene: 65341 GeneCards: DSG4 Gene
Gene Ontology Molecular function • calcium ion binding Cellular component • plasma membrane • integral to membrane • cell junction • desmosome Biological process • cell adhesion • homophilic cell adhesion Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	147409	16769
Ensembl	ENSG00000175065	ENSMUSG00000001804
UniProt	Q86SJ6	Q2VPD0
RefSeq (mRNA)	NM_001134453.1	NM_181564.2
RefSeq (protein)	NP_001127925.1	NP_853543.1
Location (UCSC)	Chr 18: 28.96 – 28.99 Mb	Chr 18: 20.59 – 20.63 Mb
PubMed search	[1]	[2]

Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene.^[1][2]

References

1. ^ Whittock NV, Bower C (Mar 2003). "Genetic evidence for a novel human desmosomal cadherin, desmoglein 4". J Invest Dermatol 120 (4): 523–30. doi:10.1046/j.1523-1747.2003.12113.x. PMID 12648213. 
2. ^ "Entrez Gene: DSG4 desmoglein 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=147409. 

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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. 
• 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. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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/JCI200420480. PMC 525737. PMID 15545999. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=525737. 
• Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2006). "Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats". J. Investig. Dermatol. Symp. Proc. 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.