DSG4 (desmoglein 4)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147409
Gene name Gene Name - the full gene name approved by the HGNC.
Desmoglein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DSG4
Synonyms (NCBI Gene) Gene synonyms aliases
CDGF13, CDHF13, HYPT6, LAH
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
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
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
FOXN1 Repression 19683850
HOXC13 Repression 19683850
LEF1 Repression 19683850
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607892 21307 ENSG00000175065
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Formation of the cornified envelope
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypotrichosis hypotrichosis 6 rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypotrichosis simplex hypotrichosis simplex N/A N/A GenCC
Monilethrix monilethrix N/A N/A GenCC
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
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