Desmoglein-4

DSG4

Identifiers

DSG4, CDGF13, CDHF13, HYPT6, LAH, desmoglein 4

External IDs

OMIM: 607892; MGI: 2661061; GeneCards: DSG4

Gene location (Human)

Chr.	Chromosome 18 (human)

Band	18q12.1	Start	31,376,777 bp
Band	18q12.1	End	31,414,912 bp

Gene location (Mouse)

Chr.	Chromosome 18 (mouse)

Band	18 A2\|18 11.35 cM	Start	20,569,232 bp
Band	18 A2\|18 11.35 cM	End	20,604,878 bp

RNA expression pattern

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

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

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


147409


16769


ENSG00000175065


ENSMUSG00000001804


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

View/Edit Human

View/Edit Mouse

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

See also

List of conditions caused by problems with junctional proteins

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".

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.

Membrane proteins: cell adhesion molecules

Calcium-independent

IgSF CAM	N-CAM (Myelin protein zero) ICAM (1, 5) VCAM-1 PE-CAM L1 family L1-CAM NRCAM NFASC CHL1 Nectin PVRL1 PVRL2 PVRL3 CADM1 CADM2 CADM3 CD155
Integrins	LFA-1 (CD11a+CD18) Integrin alphaXbeta2 (CD11c+CD18) Macrophage-1 antigen (CD11b+CD18) VLA-4 (CD49d+CD29) Glycoprotein IIb/IIIa (ITGA2B+ITGB3)

Calcium-dependent

Classical	CDH1 CDH2 CDH3
Desmosomal	Desmoglein (DSG1, DSG2, DSG3, DSG4) Desmocollin (DSC1, DSC2, DSC3)
Protocadherin	PCDH1 PCDH15 PCDH19
Unconventional/ungrouped	T-cadherin CDH4 CDH5 CDH6 CDH8 CDH11 CDH12 CDH15 CDH16 CDH17 CDH9 CDH10

Other

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