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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypotrichosis 6	Likely pathogenic; Pathogenic	rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs767724665, rs2144169578	RCV000002839 RCV000002840 RCV000002841 RCV000002842 RCV000002843 RCV000002844 RCV000002845 RCV003229586 RCV003229587	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DSG4-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	26148547		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	24458596		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	12705872, 16439973, 25251037		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22419608		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	16543896	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26096762		★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	16575393		★☆☆☆☆ Found in Text Mining only
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	20213768		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	12705872, 16439973, 25251037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	LHGDN	12705872, 16382669, 17392831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	Pubtator	16439973, 16575393	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 6	Hypotrichosis	GENOMICS_ENGLAND_DG	15304105		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTRICHOSIS 6	Hypotrichosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTRICHOSIS 6	Hypotrichosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	ORPHANET_DG	16770573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monilethrix	Monilethrix	BEFREE	16439973, 16575393, 21495994, 25615553, 26173648		★☆☆☆☆ Found in Text Mining only
Monilethrix	Monilethrix	ORPHANET_DG	16575393, 21495994		★☆☆☆☆ Found in Text Mining only
Monilethrix	Monilethrix	Orphanet			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	25331583		★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	BEFREE	24124081		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	LHGDN	12705872, 15545999		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	12705872		★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	31584751		★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	16543896	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	16543896, 16575393, 16770573, 18445047, 25251037, 26173648		★☆☆☆☆ Found in Text Mining only