Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1825
Gene name Gene Name - the full gene name approved by the HGNC.
Desmocollin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DSC3
Synonyms (NCBI Gene) Gene synonyms aliases
CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DSC
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.
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.
SNP ID Visualize variation Clinical significance Consequence
rs137852782 A>C Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope TAS
GO:0001701 Process In utero embryonic development IEA
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600271 3037 ENSG00000134762
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
16799634
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
16799634
Hereditary hypotrichosis with skin vesicles Hereditary hypotrichosis with recurrent skin vesicles rs137852782
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
Associations from Text Mining
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