Desmoglein-4

Protein found in humans
DSG4
Identifiers
AliasesDSG4, CDGF13, CDHF13, HYPT6, LAH, desmoglein 4
External IDsOMIM: 607892 MGI: 2661061 HomoloGene: 65341 GeneCards: DSG4
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for DSG4
Genomic location for DSG4
Band18q12.1Start31,376,777 bp[1]
End31,414,912 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for DSG4
Genomic location for DSG4
Band18 A2|18 11.35 cMStart20,569,232 bp[2]
End20,604,878 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • duodenum

  • skin of abdomen

  • rectum

  • vagina

  • head

  • mouth

  • salivary gland

  • minor salivary glands

  • connective tissue

  • adipose tissue
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
SpeciesHumanMouse
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 MbChr 18: 20.57 – 20.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000175065 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  6. ^ "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.


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