Gene Gene information from NCBI Gene database.
Entrez ID 1830
Gene name Desmoglein 3
Gene symbol DSG3
Synonyms (NCBI Gene)
ABOLMCDHF6PVA
Chromosome 18
Chromosome location 18q12.1
Summary This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and o
miRNA miRNA information provided by mirtarbase database.
386
miRTarBase ID miRNA Experiments Reference
MIRT650030 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT650029 hsa-miR-1247-3p HITS-CLIP 23824327
MIRT650028 hsa-miR-4532 HITS-CLIP 23824327
MIRT650027 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT650026 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope TAS
GO:0002159 Process Desmosome assembly IMP 9701552
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
169615 3050 ENSG00000134757
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P32926
Protein name Desmoglein-3 (130 kDa pemphigus vulgaris antigen) (PVA) (Cadherin family member 6)
Protein function A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:31835537). Required for adherens and desmosome junction assembly in response to mechanical force in keratinocytes (PubMed:318355
PDB 5EQX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00028 Cadherin 57 148 Cadherin domain Domain
PF00028 Cadherin 162 258 Cadherin domain Domain
PF00028 Cadherin 272 375 Cadherin domain Domain
PF01049 Cadherin_C 763 862 Cadherin cytoplasmic region Family
Tissue specificity TISSUE SPECIFICITY: Expressed throughout the basal and spinous layer of the epidermis with weak expression in the granular layer (at protein level) (PubMed:19717567). Expressed in skin and mucosa (at protein level) (PubMed:22294297, PubMed:30528827). Expr
Sequence
MMGLFPRTTGALAIFVVVILVHGELRIETKGQYDEEEMTMQQAKRRQKREWVKFAKPCRE
GEDNSKRNPIAKITSDYQATQKITYRISGVGIDQPPFGIFVVDKNTGDINITAIVDREET
PSFLITCRALNAQGLDVEKPLILTVKIL
DINDNPPVFSQQIFMGEIEENSASNSLVMILN
ATDADEPNHLNSKIAFKIVSQEPAGTPMFLLSRNTGEVRTLTNSLDREQASSYRLVVSGA
DKDGEGLSTQCECNIKVK
DVNDNFPMFRDSQYSARIEENILSSELLRFQVTDLDEEYTDN
WLAVYFFTSGNEGNWFEIQTDPRTNEGILKVVKALDYEQLQSVKLSIAVKNKAEFHQSVI
SRYRVQSTPVTIQVI
NVREGIAFRPASKTFTVQKGISSKKLVDYILGTYQAIDEDTNKAA
SNVKYVMGRNDGGYLMIDSKTAEIKFVKNMNRDSTFIVNKTITAEVLAIDEYTGKTSTGT
VYVRVPDFNDNCPTAVLEKDAVCSSSPSVVVSARTLNNRYTGPYTFALEDQPVKLPAVWS
ITTLNATSALLRAQEQIPPGVYHISLVLTDSQNNRCEMPRSLTLEVCQCDNRGICGTSYP
TTSPGTRYGRPHSGRLGPAAIGLLLLGLLLLLLAPLLLLTCDCGAGSTGGVTGGFIPVPD
GSEGTIHQWGIEGAHPEDKEITNICVPPVTANGADFMESSEVCTNTYARGTAVEGTSGME
MTTKLGAATESGGAAGFATGTVSGAASGFGAATGVGICSSGQSGTMRTRHSTGGTNKDYA
DGAISMNFLDSYFSQKAFACAEEDDGQEANDCLLIYDNEGADATGSPVGSVGCCSFIADD
LDDSFLDSLGPKFKKLAEISLG
VDGEGKEVQPPSKDSGYGIESCGHPIEVQQTGFVKCQT
LSGSQGASALSTSGSVQPAVSIPDPLQHGNYLVTETYSASGSLVQPSTAGFDPLLTQNVI
VTERVICPISSVPGNLAGPTQLRGSHTMLCTEDPCSRLI
Sequence length 999
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Apoptotic cleavage of cell adhesion proteins
Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Blistering, acantholytic, of oral and laryngeal mucosa Pathogenic rs1472943015 RCV001312056
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16638856, 17084439, 19342368, 20878980, 31809668
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29441979
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29069744
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 9701552
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26469831
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 11021840, 11176692, 14675184, 29307572, 30239818, 31024527, 31247885, 31582719, 9540980
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 27402694 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31254429
★☆☆☆☆
Found in Text Mining only
Blister Blister Pubtator 22277944, 32235430, 37511259 Associate
★☆☆☆☆
Found in Text Mining only
Blister Blister Pubtator 35396567 Inhibit
★☆☆☆☆
Found in Text Mining only