Desmoglein-4

DSG4
Identifiers
Aliases	DSG4 , CDGF13, CDHF13, HYPT6, LAH, desmoglein 4
External IDs	OMIM: 607892 MGI: 2661061 HomoloGene: 65341 GeneCards: DSG4
Gene location (Human)
Chr.	Chromosome 18 (human)
End	31,414,912 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	20,604,878 bp
RNA expression pattern
	Top expressed in
	duodenum; ; skin of abdomen; ; rectum; ; vagina; ; head; ; mouth; ; salivary gland; ; minor salivary gland; ; connective tissue; ; adipose tissue;
	Top expressed in
	lip; ; zone of skin; ; ileum; ; jejunum; ; placenta;
	More reference expression data
	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
	147409
	16769
	ENSG00000175065
	ENSMUSG00000001804
	Q86SJ6
	Q7TMD7
	NM_001134453 ; NM_177986
	NM_181564
	NP_001127925 ; NP_817123
	NP_853543
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 16, 2023

Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene.^[5]^[6]

Related Research Articles

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The desmogleins are a family of desmosomal cadherins consisting of proteins DSG1, DSG2, DSG3, and DSG4. They play a role in the formation of desmosomes that join cells to one another.

Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene. Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.

Desmoglein-3 is a protein that in humans is encoded by the DSG3 gene. In the skin epidermis Desmoglein-3 is expressed in the basal lower layers of the epidermis, and dominates in terms of expression on mucosal surfaces compared to Desmoglein-1.

Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. Desmoglein-2 is highly expressed in epithelial cells and cardiomyocytes. Desmoglein-2 is localized to desmosome structures at regions of cell-cell contact and functions to structurally adhere adjacent cells together. In cardiac muscle, these regions are specialized regions known as intercalated discs. Mutations in desmoglein-2 have been associated with arrhythmogenic right ventricular cardiomyopathy and familial dilated cardiomyopathy.

Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in DSC2 have been causally linked to arrhythmogenic right ventricular cardiomyopathy.

Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.

Chloride channel 7 alpha subunit also known as H⁺/Cl⁻ exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.

Desmocollin-3 is a protein that in humans is encoded by the DSC3 gene.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000175065 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001804 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ "Entrez Gene: DSG4 desmoglein 4".

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000175065 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001804 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12648213-5] 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.

[entrez-6] "Entrez Gene: DSG4 desmoglein 4".

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Desmoglein-4

Contents

See also

Related Research Articles

References

Further reading