Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1823
Gene name Gene Name - the full gene name approved by the HGNC.	Desmocollin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DSC1
Synonyms (NCBI Gene) Gene synonyms aliases	CDHF1, DG2/DG3
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

Show/Hide all(86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029850	hsa-miR-26b-5p	Microarray	19088304
MIRT945493	hsa-miR-122	CLIP-seq
MIRT945494	hsa-miR-1307	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945496	hsa-miR-3163	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT945499	hsa-miR-380	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT945502	hsa-miR-4638-5p	CLIP-seq
MIRT945503	hsa-miR-4668-3p	CLIP-seq
MIRT945504	hsa-miR-942	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT945494	hsa-miR-1307	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT1979895	hsa-miR-4284	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT945502	hsa-miR-4638-5p	CLIP-seq
MIRT1979897	hsa-miR-4772-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq
MIRT1979899	hsa-miR-548n	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT2215106	hsa-miR-1266	CLIP-seq
MIRT945494	hsa-miR-1307	CLIP-seq
MIRT2215107	hsa-miR-3127-5p	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT2215108	hsa-miR-3918	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT2215109	hsa-miR-4446-3p	CLIP-seq
MIRT2215110	hsa-miR-4518	CLIP-seq
MIRT2215111	hsa-miR-4535	CLIP-seq
MIRT945502	hsa-miR-4638-5p	CLIP-seq
MIRT2215112	hsa-miR-492	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT2448523	hsa-miR-1976	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT2448524	hsa-miR-4279	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT2448525	hsa-miR-4722-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT2465188	hsa-miR-139-3p	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT2465188	hsa-miR-139-3p	CLIP-seq
MIRT2448523	hsa-miR-1976	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT2448524	hsa-miR-4279	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT2448525	hsa-miR-4722-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT2448523	hsa-miR-1976	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT2448524	hsa-miR-4279	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT2448525	hsa-miR-4722-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0002160	Process	Desmosome maintenance	IEA
GO:0002160	Process	Desmosome maintenance	ISS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19136012
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	TAS	7679953
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7679953
GO:0030054	Component	Cell junction	IEA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	ISS
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
125643	3035	ENSG00000134765

Protein

UniProt ID

Q08554

Protein name

Desmocollin-1 (Cadherin family member 1) (Desmosomal glycoprotein 2/3) (DG2/DG3)

Protein function

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for desmosome adhesion strength between the granular layers of the epidermis, as a result moderates epidermal

PDB

5IRY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08758	Cadherin_pro	27 → 111	Cadherin prodomain like	Domain
PF00028	Cadherin	139 → 233	Cadherin domain	Domain
PF00028	Cadherin	247 → 345	Cadherin domain	Domain
PF00028	Cadherin	359 → 463	Cadherin domain	Domain
PF00028	Cadherin	476 → 568	Cadherin domain	Domain
PF01049	Cadherin_C	716 → 894	Cadherin cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in epidermis, less in lymph node and tongue. {ECO:0000269|PubMed:1713860}.

Sequence

MALASAAPGSIFCKQLLFSLLVLTLLCDACQKVYLRVPSHLQAETLVGKVNLEECLKSAS
LIRSSDPAFRILEDGSIYTTHDLILSSERKSFSIFLSDGQRREQQEIKVVLSARENKSPK
KRHTKDTALKRSKRRWAPIPASLMENSLGPFPQHVQQIQSDAAQNYTIFYSISGPGVDKE
PFNLFYIEKDTGDIFCTRSIDREKYEQFALYGYATTADGYAPEYPLPLIIKIEDDNDNAP
YFEHRVTIFTVPENCRSGTSVGKVTATDLDEPDTLHTRLKYKILQQIPDHPKHFSIHPDT
GVITTTTPFLDREKCDTYQLIMEVRDMGGQPFGLFNTGTITISLEDENDNPPSFTETSYV
TEVEENRIDVEILRMKVQDQDLPNTPHSKAVYKILQGNENGNFIISTDPNTNEGVLCVVK
PLNYEVNRQVILQVGVINEAQFSKAASSQTPTMCTTTVTVKIIDSDEGPECHPPVKVIQS
QDGFPAGQELLGYKALDPEISSGEGLRYQKLGDEDNWFEINQHTGDLRTLKVLDRESKFV
KNNQYNISVVAVDAVGRSCTGTLVVHLDDYNDHAPQIDKEVTICQNNEDFAVLKPVDPDG
PENGPPFQFFLDNSASKNWNIEEKDGKTAILRQRQNLDYNYYSVPIQIKDRHGLVATHML
TVRVCDCSTPSECRMKDKSTRDVRPNVILGRWAILAMVLGSVLLLCILFTCFCVTAKRTV
KKCFPEDIAQQNLIVSNTEGPGEEVTEANIRLPMQTSNICDTSMSVGTVGGQGIKTQQSF
EMVKGGYTLDSNKGGGHQTLESVKGVGQGDTGRYAYTDWQSFTQPRLGEKVYLCGQDEEH
KHCEDYVCSYNYEGKGSLAGSVGCCSDRQEEEGLEFLDHLEPKFRTLAKTCIKK

Sequence length

894

Interactions

View interactions

	Reactome
			Neutrophil degranulation Keratinization Formation of the cornified envelope

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anus Neoplasms	Associate	22333708
Breast Neoplasms	Associate	37144994, 37620794
Bronchopulmonary Dysplasia	Associate	37147394
Carcinoma Squamous Cell	Associate	22333708
Colonic Neoplasms	Associate	17088906
Dermatitis Atopic	Associate	21211653
Ichthyosis Lamellar	Associate	27769847
Kaposi Varicelliform Eruption	Associate	21211653
Lupus Erythematosus Systemic	Associate	37950194
Lymphatic Metastasis	Associate	37620794
Netherton Syndrome	Inhibit	16628198
Pemphigus	Associate	23505434
Periodontitis	Inhibit	27531006
Sezary Syndrome	Associate	27039262

DSC1 (desmocollin 1)