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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852782	A>C	Pathogenic	Stop gained, coding sequence variant

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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
MIRT051723	hsa-let-7d-5p	CLASH	23622248
MIRT945578	hsa-miR-1202	CLIP-seq
MIRT945579	hsa-miR-1252	CLIP-seq
MIRT945580	hsa-miR-1287	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945582	hsa-miR-200b	CLIP-seq
MIRT945583	hsa-miR-200c	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945585	hsa-miR-223	CLIP-seq
MIRT945586	hsa-miR-2355-5p	CLIP-seq
MIRT945587	hsa-miR-3122	CLIP-seq
MIRT945588	hsa-miR-3126-5p	CLIP-seq
MIRT945589	hsa-miR-3135b	CLIP-seq
MIRT945590	hsa-miR-3194-5p	CLIP-seq
MIRT945591	hsa-miR-3664-3p	CLIP-seq
MIRT945592	hsa-miR-3689a-3p	CLIP-seq
MIRT945593	hsa-miR-3689c	CLIP-seq
MIRT945594	hsa-miR-374c	CLIP-seq
MIRT945595	hsa-miR-3913-5p	CLIP-seq
MIRT945596	hsa-miR-3929	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT945598	hsa-miR-3938	CLIP-seq
MIRT945599	hsa-miR-3972	CLIP-seq
MIRT945600	hsa-miR-3973	CLIP-seq
MIRT945601	hsa-miR-4272	CLIP-seq
MIRT945602	hsa-miR-429	CLIP-seq
MIRT945603	hsa-miR-4302	CLIP-seq
MIRT945604	hsa-miR-4419a	CLIP-seq
MIRT945605	hsa-miR-4419b	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945608	hsa-miR-4478	CLIP-seq
MIRT945609	hsa-miR-4510	CLIP-seq
MIRT945610	hsa-miR-4649-3p	CLIP-seq
MIRT945611	hsa-miR-4653-3p	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945613	hsa-miR-4695-5p	CLIP-seq
MIRT945614	hsa-miR-4697-3p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT945616	hsa-miR-4724-5p	CLIP-seq
MIRT945617	hsa-miR-4728-5p	CLIP-seq
MIRT945618	hsa-miR-4729	CLIP-seq
MIRT945619	hsa-miR-4765	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT945622	hsa-miR-485-5p	CLIP-seq
MIRT945623	hsa-miR-510	CLIP-seq
MIRT945624	hsa-miR-512-3p	CLIP-seq
MIRT945625	hsa-miR-512-5p	CLIP-seq
MIRT945626	hsa-miR-520g	CLIP-seq
MIRT945627	hsa-miR-520h	CLIP-seq
MIRT945628	hsa-miR-548a-5p	CLIP-seq
MIRT945629	hsa-miR-548aa	CLIP-seq
MIRT945630	hsa-miR-548ab	CLIP-seq
MIRT945631	hsa-miR-548ak	CLIP-seq
MIRT945632	hsa-miR-548b-5p	CLIP-seq
MIRT945633	hsa-miR-548c-5p	CLIP-seq
MIRT945634	hsa-miR-548d-5p	CLIP-seq
MIRT945635	hsa-miR-548h	CLIP-seq
MIRT945636	hsa-miR-548i	CLIP-seq
MIRT945637	hsa-miR-548j	CLIP-seq
MIRT945638	hsa-miR-548p	CLIP-seq
MIRT945639	hsa-miR-548w	CLIP-seq
MIRT945640	hsa-miR-548y	CLIP-seq
MIRT945641	hsa-miR-559	CLIP-seq
MIRT945642	hsa-miR-587	CLIP-seq
MIRT945643	hsa-miR-592	CLIP-seq
MIRT945644	hsa-miR-597	CLIP-seq
MIRT945645	hsa-miR-655	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT945647	hsa-miR-944	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT1979917	hsa-miR-1914	CLIP-seq
MIRT1979918	hsa-miR-210	CLIP-seq
MIRT1979919	hsa-miR-4252	CLIP-seq
MIRT1979920	hsa-miR-4276	CLIP-seq
MIRT1979921	hsa-miR-4468	CLIP-seq
MIRT945610	hsa-miR-4649-3p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT1979922	hsa-miR-4756-3p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT1979923	hsa-miR-4793-3p	CLIP-seq
MIRT1979924	hsa-miR-508-5p	CLIP-seq
MIRT1979925	hsa-miR-766	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT2215189	hsa-miR-1269	CLIP-seq
MIRT2215190	hsa-miR-1269b	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT2215191	hsa-miR-130a	CLIP-seq
MIRT2215192	hsa-miR-130b	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT1979917	hsa-miR-1914	CLIP-seq
MIRT1979918	hsa-miR-210	CLIP-seq
MIRT2215193	hsa-miR-216b	CLIP-seq
MIRT2215194	hsa-miR-301a	CLIP-seq
MIRT2215195	hsa-miR-301b	CLIP-seq
MIRT2215196	hsa-miR-3666	CLIP-seq
MIRT1979919	hsa-miR-4252	CLIP-seq
MIRT1979920	hsa-miR-4276	CLIP-seq
MIRT2215197	hsa-miR-4295	CLIP-seq
MIRT1979921	hsa-miR-4468	CLIP-seq
MIRT2215198	hsa-miR-4529-3p	CLIP-seq
MIRT2215199	hsa-miR-454	CLIP-seq
MIRT2215200	hsa-miR-4671-3p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT1979922	hsa-miR-4756-3p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT1979923	hsa-miR-4793-3p	CLIP-seq
MIRT1979924	hsa-miR-508-5p	CLIP-seq
MIRT1979925	hsa-miR-766	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT1979917	hsa-miR-1914	CLIP-seq
MIRT2387123	hsa-miR-3157-3p	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT1979919	hsa-miR-4252	CLIP-seq
MIRT1979920	hsa-miR-4276	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT1979921	hsa-miR-4468	CLIP-seq
MIRT2387124	hsa-miR-4493	CLIP-seq
MIRT2387125	hsa-miR-4635	CLIP-seq
MIRT1979922	hsa-miR-4756-3p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT2387126	hsa-miR-4780	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT1979923	hsa-miR-4793-3p	CLIP-seq
MIRT2387127	hsa-miR-502-5p	CLIP-seq
MIRT1979924	hsa-miR-508-5p	CLIP-seq
MIRT1979925	hsa-miR-766	CLIP-seq
MIRT2387128	hsa-miR-874	CLIP-seq
MIRT2387129	hsa-miR-938	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT2428392	hsa-miR-3123	CLIP-seq
MIRT2428393	hsa-miR-3919	CLIP-seq
MIRT2428394	hsa-miR-4330	CLIP-seq
MIRT2428395	hsa-miR-4797-5p	CLIP-seq
MIRT2428396	hsa-miR-600	CLIP-seq
MIRT2428392	hsa-miR-3123	CLIP-seq
MIRT2428393	hsa-miR-3919	CLIP-seq
MIRT2428394	hsa-miR-4330	CLIP-seq
MIRT2428395	hsa-miR-4797-5p	CLIP-seq
MIRT2428396	hsa-miR-600	CLIP-seq
MIRT2428392	hsa-miR-3123	CLIP-seq
MIRT2428393	hsa-miR-3919	CLIP-seq
MIRT2428394	hsa-miR-4330	CLIP-seq
MIRT2428395	hsa-miR-4797-5p	CLIP-seq
MIRT2428396	hsa-miR-600	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945586	hsa-miR-2355-5p	CLIP-seq
MIRT2448526	hsa-miR-3178	CLIP-seq
MIRT2448527	hsa-miR-323-5p	CLIP-seq
MIRT2448528	hsa-miR-338-5p	CLIP-seq
MIRT2448529	hsa-miR-3545-3p	CLIP-seq
MIRT945591	hsa-miR-3664-3p	CLIP-seq
MIRT945596	hsa-miR-3929	CLIP-seq
MIRT945598	hsa-miR-3938	CLIP-seq
MIRT945605	hsa-miR-4419b	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945608	hsa-miR-4478	CLIP-seq
MIRT2448530	hsa-miR-4637	CLIP-seq
MIRT945610	hsa-miR-4649-3p	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945613	hsa-miR-4695-5p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT2448531	hsa-miR-4795-3p	CLIP-seq
MIRT945622	hsa-miR-485-5p	CLIP-seq
MIRT945623	hsa-miR-510	CLIP-seq
MIRT945625	hsa-miR-512-5p	CLIP-seq
MIRT2448532	hsa-miR-541	CLIP-seq
MIRT2448533	hsa-miR-566	CLIP-seq
MIRT2448534	hsa-miR-654-5p	CLIP-seq
MIRT2448535	hsa-miR-656	CLIP-seq
MIRT2448536	hsa-miR-876-3p	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT2448528	hsa-miR-338-5p	CLIP-seq
MIRT2448529	hsa-miR-3545-3p	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT2448531	hsa-miR-4795-3p	CLIP-seq
MIRT2448535	hsa-miR-656	CLIP-seq
MIRT2519544	hsa-miR-1268	CLIP-seq
MIRT2519545	hsa-miR-1268b	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945587	hsa-miR-3122	CLIP-seq
MIRT2448526	hsa-miR-3178	CLIP-seq
MIRT2448527	hsa-miR-323-5p	CLIP-seq
MIRT945591	hsa-miR-3664-3p	CLIP-seq
MIRT945592	hsa-miR-3689a-3p	CLIP-seq
MIRT945593	hsa-miR-3689c	CLIP-seq
MIRT945595	hsa-miR-3913-5p	CLIP-seq
MIRT945596	hsa-miR-3929	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT945605	hsa-miR-4419b	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945608	hsa-miR-4478	CLIP-seq
MIRT2519546	hsa-miR-4480	CLIP-seq
MIRT2519547	hsa-miR-4503	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945613	hsa-miR-4695-5p	CLIP-seq
MIRT945617	hsa-miR-4728-5p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT945622	hsa-miR-485-5p	CLIP-seq
MIRT945623	hsa-miR-510	CLIP-seq
MIRT945625	hsa-miR-512-5p	CLIP-seq
MIRT2448532	hsa-miR-541	CLIP-seq
MIRT2448533	hsa-miR-566	CLIP-seq
MIRT2448534	hsa-miR-654-5p	CLIP-seq
MIRT2448536	hsa-miR-876-3p	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT2519544	hsa-miR-1268	CLIP-seq
MIRT2519545	hsa-miR-1268b	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945587	hsa-miR-3122	CLIP-seq
MIRT2448526	hsa-miR-3178	CLIP-seq
MIRT2448527	hsa-miR-323-5p	CLIP-seq
MIRT945592	hsa-miR-3689a-3p	CLIP-seq
MIRT945593	hsa-miR-3689c	CLIP-seq
MIRT945595	hsa-miR-3913-5p	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT2519546	hsa-miR-4480	CLIP-seq
MIRT2519547	hsa-miR-4503	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945617	hsa-miR-4728-5p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT2448532	hsa-miR-541	CLIP-seq
MIRT2448533	hsa-miR-566	CLIP-seq
MIRT2448534	hsa-miR-654-5p	CLIP-seq
MIRT2448536	hsa-miR-876-3p	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq

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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
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7929347
GO:0005911	Component	Cell-cell junction	TAS	7929347
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	7929347
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7929347
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	IEA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IEA
GO:0045295	Function	Gamma-catenin binding	IPI	7983064
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IDA	7983064
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

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
ADLIRSSDPDFRVLNDGSVYTARAVALSDKKRSFTIWLSDKRKQTQKEVTVLLEHQKKVS
KTRHTRETVLRRAKRRWAPIPCSMQENSLGPFPLFLQQVESDAAQNYTVFYSISGRGVDK
EPLNLFYIERDTGNLFCTRPVDREEYDVFDLIAYASTADGYSADLPLPLPIRVEDENDNH
PVFTEAIYNFEVLESSRPGTTVGVVCATDRDEPDTMHTRLKYSILQQTPRSPGLFSVHPS
TGVITTVSHYLDREVVDKYSLIMKVQDMDGQFFGLIGTSTCIITVTDSNDNAPTFRQNAY
EAFVEENAFNVEILRIPIEDKDLINTANWRVNFTILKGNENGHFKISTDKETNEGVLSVV
KPLNYEENRQVNLEIGVNNEAPFARDIPRVTALNRALVTVHVRDLDEGPECTPAAQYVRI
KENLAVGSKINGYKAYDPENRNGNGLRYKKLHDPKGWITIDEISGSIITSKILDREVETP
KNELYNITVLAIDKDDRSCTGTLAVNIEDVNDNPPEILQEYVVICKPKMGYTDILAVDPD
EPVHGAPFYFSLPNTSPEISRLWSLTKVNDTAARLSYQKNAGFQEYTIPITVKDRAGQAA
TKLLRVNLCECTHPTQCRATSRSTGVILGKWAILAILLGIALLFSVLLTLVCGVFGATKG
KRFPEDLAQQNLIISNTEAPGDDRVCSANGFMTQTTNNSSQGFCGTMGSGMKNGGQETIE
MMKGGNQTLESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKLHRCNQNE
DRMPSQDYVLTYNYEGRGSPAGSVGCCSEKQEEDGLDFLNNLEPKFITLAEACTKR

Sequence length

896

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary Hypotrichosis With Skin Vesicles	hereditary hypotrichosis with recurrent skin vesicles	rs137852782	N/A

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Colitis	Associate	17088906
Colonic Neoplasms	Associate	17088906
Colorectal Neoplasms	Associate	21364582
Dystonia 3 Torsion X Linked	Associate	12928496
Fibrocartilaginous embolism	Associate	32943704
Melanoma	Associate	32869947
Melanoma Cutaneous Malignant	Associate	32457125, 32869947
Mouth Neoplasms	Associate	36581338
Neoplasms	Inhibit	20534969
Neoplasms	Associate	24664224, 26261554, 33731721
Neoplasms Basal Cell	Associate	19287461
Neoplasms Squamous Cell	Associate	16489176, 19287461
Ovarian Neoplasms	Associate	26261554
Pemphigus	Associate	23505434
Prostatic Neoplasms	Associate	24664224
Pseudomyxoma Peritonei	Associate	25929336
Small Cell Lung Carcinoma	Associate	19287461
Squamous Cell Carcinoma of Head and Neck	Associate	40650045
Stomach Neoplasms	Associate	34034702

DSC3 (desmocollin 3)