DSG4 (desmoglein 4)

Gene

• Entrez ID: 147409
• Gene name: Desmoglein 4
• Gene symbol: DSG4
• Synonyms (NCBI Gene): CDGF13, CDHF13, HYPT6, LAH
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT946176	hsa-miR-3200-5p	CLIP-seq
MIRT946177	hsa-miR-4682	CLIP-seq
MIRT946178	hsa-miR-496	CLIP-seq
MIRT946179	hsa-miR-653	CLIP-seq
MIRT946180	hsa-miR-889	CLIP-seq
MIRT946181	hsa-miR-200b	CLIP-seq
MIRT946182	hsa-miR-200c	CLIP-seq
MIRT946183	hsa-miR-376c	CLIP-seq
MIRT946184	hsa-miR-429	CLIP-seq
MIRT946185	hsa-miR-4422	CLIP-seq
MIRT946186	hsa-miR-591	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXN1	Repression	19683850
HOXC13	Repression	19683850
LEF1	Repression	19683850

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0001942	Process	Hair follicle development	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 607892
• HGNC: 21307
• e!Ensembl: ENSG00000175065

Protein

• UniProt ID: Q86SJ6
• Protein name: Desmoglein-4 (Cadherin family member 13)
• Protein function: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). Plays
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	54 → 148	Cadherin domain	Domain
  PF00028	Cadherin	162 → 260	Cadherin domain	Domain
  PF00028	Cadherin	274 → 377	Cadherin domain	Domain
  PF00028	Cadherin	391 → 488	Cadherin domain	Domain
  PF01049	Cadherin_C	751 → 850	Cadherin cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex (at protein level) (PubMed:12705872, PubMed:26173648). Expressed in the brain, muscle, kidney, pancreas, spleen, thymus and weakly ex
• Sequence:

  MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACRE
  GEDNSKRNPIAKIRSDCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREIT
  PLFLIYCRALNSRGEDLERPLELRVKVMDINDNAPVFSQSVYTASIEENSDANTLVVKLC
  ATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFLDREQHSMYNLVVRGS
  DRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGT
  DNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYS
  VASQFQMHPTPVRIQVVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGN
  PATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTAT
  GTICIEVPDINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWD
  VRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGA
  AGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQP
  EGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYA
  AGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLD
  SYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKF
  RTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPV
  VHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYN
  NVIYAERVLASPGVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGST
  SPMTSRHRVTRYSNIHYTQQ

• Sequence length: 1040

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hypotrichosis 6	Likely pathogenic; Pathogenic	rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs767724665, rs2144169578	RCV000002839 RCV000002840 RCV000002841 RCV000002842 RCV000002843 RCV000002844 RCV000002845 RCV003229586 RCV003229587

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
DSG4-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs748253642, rs771473707, rs764234368, rs1474083096, rs537452018, rs188617814, rs2510867090, rs149615937, rs764083246, rs146720169, rs75549650, rs35210710, rs150676638, rs143288405, rs151238705, rs142106072, rs150706241, rs35378785, rs36040686, rs151254406, rs562979333, rs144490546, rs376174057, rs200288878	RCV003929306 RCV003948994 RCV003921636 RCV003964687 RCV003904445 RCV003942039 RCV003931612 RCV003951406 RCV003944384 RCV003957667 RCV003912364 RCV003912365 RCV003912366 RCV003957668 RCV003922391 RCV003969929 RCV003910251 RCV003928177 RCV003926122 RCV003970863 RCV003930632 RCV003948313 RCV003918712 RCV003945840
Malignant lymphoma, large B-cell, diffuse	Benign	rs17729233	RCV005915520

Associations from Text Mining
Disease Name	Relationship Type	References
Ectodermal Dysplasia	Associate	16543896
Hair Diseases	Associate	16439973, 16575393
Hypotrichosis	Associate	16439973, 16575393
Hypotrichosis Localized Autosomal Recessive 1	Associate	16439973, 16543896, 32336749
Monilethrix	Associate	16439973, 16575393, 25615553, 35146972
Pruritus	Associate	16543896