• Gene id: 147409

Gene Summary

• Gene Symbol: DSG4   Gene   UCSC   Ensembl
• Aliases: CDGF13, CDHF13, HYPT6, LAH
• Gene name: desmoglein 4
• Alternate names: desmoglein-4, cadherin family member 13,
• Gene location: 18q12.1 (31376776: 31415790)     Exons: 16     NC_000018.10
• Gene summary(Entrez): This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell

Protein Summary

• Protein general information: Q86SJ6  
  • Name: Desmoglein 4 (Cadherin family member 13)
  • Length: 1040  
  • Mass: 113824
  • Tissue specificity: Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex. {ECO
• Sequence:

  MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACREGEDNSKRNPIAKIRS
  DCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREITPLFLIYCRALNSRGEDLERPLELRVKVMDI
  NDNAPVFSQSVYTASIEENSDANTLVVKLCATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFL
  DREQHSMYNLVVRGSDRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGT
  DNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYSVASQFQMHPTPVRIQ
  VVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGNPATDVRYIIGHDAGSWLKIDSRTGEIQFSR
  EFDKKSKYIINGIYTAEILAIDDGSGKTATGTICIEVPDINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFT
  FCVVDEPPGIADMWDVRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGA
  AGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQPEGLGTRFAPVPEGGE
  GVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYAAGGTVEGGVSGVELNTGMGTAVGLMAAGAA
  GASGAARKRSSTMGTLRDYADADINMAFLDSYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIV
  DDLDESCMETLDPKFRTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPV
  VHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYNNVIYAERVLASPGVP
  DMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGSTSPMTSRHRVTRYSNIHYTQQ

• Structural information:
  • Protein Domains: (50..15-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (158..26-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (270..38-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR000233  IPR027397   IPR009123  IPR009122  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000352785
• Other Databases: GeneCards:  DSG4  Malacards:  DSG4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0030057	desmosome	IBA	cellular component
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Localized autosomal recessive hypotrichosis	KEGG:H00784
Localized autosomal recessive hypotrichosis	KEGG:H00784
Hypotrichosis	PMID:15191570
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq