Gene Gene information from NCBI Gene database.
Entrez ID 1825
Gene name Desmocollin 3
Gene symbol DSC3
Synonyms (NCBI Gene)
CDHF3DSCDSC1DSC2DSC4HT-CP
Chromosome 18
Chromosome location 18q12.1
Summary The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs137852782 A>C Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
257
miRTarBase ID miRNA Experiments Reference
MIRT028229 hsa-miR-33a-5p Sequencing 20371350
MIRT028311 hsa-miR-32-5p Sequencing 20371350
MIRT052624 hsa-let-7a-5p CLASH 23622248
MIRT052624 hsa-let-7a-5p CLASH 23622248
MIRT051723 hsa-let-7d-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope TAS
GO:0001701 Process In utero embryonic development IEA
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
600271 3037 ENSG00000134762
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14574
Protein name Desmocollin-3 (Cadherin family member 3) (Desmocollin-4) (HT-CP)
Protein function A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for cell-cell adhesion in the epidermis, as a result required for the maintenance of the dermal cohesion and t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08758 Cadherin_pro 27 113 Cadherin prodomain like Domain
PF00028 Cadherin 140 234 Cadherin domain Domain
PF00028 Cadherin 248 346 Cadherin domain Domain
PF00028 Cadherin 360 463 Cadherin domain Domain
PF00028 Cadherin 476 568 Cadherin domain Domain
PF01049 Cadherin_C 789 896 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, PubMed:7665906). Also expressed in the buccal mucosa, esophagus and cervix (at protein le
Sequence
MAAAGPRRSVRGAVCLHLLLTLVIFSRAGEACKKVILNVPSKLEADKIIGRVNLEECFRS
ADLIRSSDPDFRVLNDGSVYTARAVALSDKKRSFTIWLSDKRKQTQKEVTVLL
EHQKKVS
KTRHTRETVLRRAKRRWAPIPCSMQENSLGPFPLFLQQVESDAAQNYTVFYSISGRGVDK
EPLNLFYIERDTGNLFCTRPVDREEYDVFDLIAYASTADGYSADLPLPLPIRVE
DENDNH
PVFTEAIYNFEVLESSRPGTTVGVVCATDRDEPDTMHTRLKYSILQQTPRSPGLFSVHPS
TGVITTVSHYLDREVVDKYSLIMKVQDMDGQFFGLIGTSTCIITVT
DSNDNAPTFRQNAY
EAFVEENAFNVEILRIPIEDKDLINTANWRVNFTILKGNENGHFKISTDKETNEGVLSVV
KPLNYEENRQVNLEIGVNNEAPFARDIPRVTALNRALVTVHVR
DLDEGPECTPAAQYVRI
KENLAVGSKINGYKAYDPENRNGNGLRYKKLHDPKGWITIDEISGSIITSKILDREVETP
KNELYNITVLAIDKDDRSCTGTLAVNIE
DVNDNPPEILQEYVVICKPKMGYTDILAVDPD
EPVHGAPFYFSLPNTSPEISRLWSLTKVNDTAARLSYQKNAGFQEYTIPITVKDRAGQAA
TKLLRVNLCECTHPTQCRATSRSTGVILGKWAILAILLGIALLFSVLLTLVCGVFGATKG
KRFPEDLAQQNLIISNTEAPGDDRVCSANGFMTQTTNNSSQGFCGTMGSGMKNGGQETIE
MMKGGNQTLESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKLHRCNQNE
DRMPSQDYVLTYNYEGRGSPAGSVGCCSEKQEEDGLDFLNNLEPKFITLAEACTKR
Sequence length 896
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary hypotrichosis with recurrent skin vesicles Pathogenic; Likely pathogenic rs2144681220, rs145045316, rs771238740, rs137852782 RCV001376131
RCV004820923
RCV003148072
RCV000009812
Sarcoma Likely pathogenic rs145045316 RCV005926682
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs9949290, rs35877601 RCV005915128
RCV005923775
DSC3-related disorder Benign; Likely benign rs8089682, rs1313586, rs114935867, rs145101142, rs276921, rs140923080 RCV003975977
RCV003976058
RCV003909323
RCV003924159
RCV003917404
RCV003954445
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs138254140 RCV004560243
Gastric cancer Benign rs276924, rs276942 RCV005924823
RCV005923593
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19287461, 28081338
Arthritis Psoriatic Associate 25514237
Breast Neoplasms Inhibit 16168112
Breast Neoplasms Associate 33899544, 40650045
Carcinogenesis Associate 21364582
Carcinoma Ductal Inhibit 16168112
Carcinoma Large Cell Associate 19287461
Carcinoma Non Small Cell Lung Associate 28081338
Carcinoma Ovarian Epithelial Associate 26261554
Carcinoma Squamous Cell Associate 16489176, 19287461, 21623236, 28081338