Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HYPT6
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.
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
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.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope TAS
GO:0001942 Process Hair follicle development IEA
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0005911 Component Cell-cell junction IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607892 21307 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
PLFLIYCRALNSRGEDLERPLELRVKVM
DINDNAPVFSQSVYTASIEENSDANTLVVKLC
ATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFLDREQHSMYNLVVRGS
DRDGAADGLSSECDCRIKVL
DVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGT
DNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYS
VASQFQMHPTPVRIQVV
DVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGN
PATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTAT
GTICIEVP
DINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWD
VRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGA
AGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQP
EGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYA
AGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLD
SYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKF
RTLAEICLNT
EIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPV
VHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYN
NVIYAERVLASPGVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGST
SPMTSRHRVTRYSNIHYTQQ
Sequence length 1040
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Hypotrichosis Hypotrichosis, HYPOTRICHOSIS 6 rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
15304105
Hypotrichosis simplex Hypotrichosis simplex rs121913026, rs201249971 16770573
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Monilethrix monilethrix GenCC
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