DSC3 - desmocollin 3 Gene

Also Known as DSC; DSC1; DSC2; DSC4; CDHF3; HT-CP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1825

About DSC3

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:30,989,365-31,042,742 (from NCBI)

This gene has 3 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in skin (RPKM 186.5) and esophagus (RPKM 47.4).

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 constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

DSC3 Products (2)

mRNA	Protein	Name
NM_001941.5	NP_001932.2	desmocollin-3 isoform Dsc3a preproprotein
NM_024423.4	NP_077741.2	desmocollin-3 isoform Dsc3b preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables gamma-catenin binding	IPI IPI: Inferred from physical interaction	7983064	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein stabilization	IDA IDA: Inferred from direct assay	7983064	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DSC3 Protein Structure

Cadherin_pro

Cadherin

Cadherin_C

0
200
400
600
800
896 a.a.

Protein Preferred Names	Protein Names
desmocollin-3	cadherin family member 3

DSC3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81957	Desmocollin 3 Antibody (YA1702)	WB, ICC/IF	Human
HY-P81957A	Desmocollin 3 Antibody (YA1702)(PBS only)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Hypotrichosis And Recurrent Skin Vesicles	Hereditary Hypotrichosis With Recurrent Skin Vesicles HYPTSV HRSV
Subcorneal Pustular Dermatosis	Subcorneal Pustular Dermatitis Sneddon-Wilkinson Disease Or Syndrome Pustulosis Subcornealis Sneddon-Wilkinson Disease Skin Diseases, Vesiculobullous Vesiculobullous Skin Disease
Pemphigus
Hypotrichosis
Pemphigus Vulgaris, Familial	Pemphigus Vulgaris Familial Pemphigus Vulgaris Pemphigus
Iga Pemphigus
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Arrhythmogenic Right Ventricular Dysplasia 11 ARVD11 Arrhythmogenic Right Ventricular Cardiomyopathy 11 Arvc11 Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair Familial Arrhythmogenic Right Ventricular Dysplasia 11 Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair ARVD11PK Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11
Naxos Disease	Mal De Naxos NXD Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities Kwwh Type I Keratoderma With Woolly Hair Type I Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Arrhythmogenic Right Ventricular Dysplasia 4 ARVD4 Arrhythmogenic Right Ventricular Cardiomyopathy 4 Arvc4 Familial Arrhythmogenic Right Ventricular Dysplasia 4 Arrhythmogenic Right Ventricular Dysplasia-4
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Carvajal Syndrome Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair DCWHK Dilated Cardiomyopathy With Woolly Hair And Keratoderma Cardiomyopathy Dilated With Woolly Hair And Keratoderma Kwwh Type Ii Keratoderma With Woolly Hair Type Ii Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy Cardiomyopathy, Dilated With Woolly Hair And Keratoderma
Pemphigus Gestationis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Arrhythmogenic Right Ventricular Dysplasia 5 ARVD5 Arrhythmogenic Right Ventricular Cardiomyopathy 5 Arvc5 Familial Arrhythmogenic Right Ventricular Dysplasia 5 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
Combined Oxidative Phosphorylation Deficiency 8	COXPD8 Combined Oxidative Phosphorylation Defect Type 8 Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile Cardiomyopathy Hypertrophic Mitochondrial Fatal Infantile Combined Oxidative Phosphorylation Deficiency, Type 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Arrhythmogenic Right Ventricular Dysplasia 8 ARVD8 Arrhythmogenic Right Ventricular Cardiomyopathy 8 Arvc8 Familial Arrhythmogenic Right Ventricular Dysplasia 8 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic Right Ventricular Dysplasia 10 ARVD10 Arrhythmogenic Right Ventricular Cardiomyopathy 10 Arvc10 Familial Arrhythmogenic Right Ventricular Dysplasia 10 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10
Ritter'S Disease	Staphylococcal Scalded Skin Syndrome Pemphigus Neonatorum Ritter Disease Dermatitis Exfoliativa Neonatorum Scalded Skin Syndrome Toxic Epidermal Necrolysis, Subcorneal Type Generalized Exfoliative Disease Ssss Ssss - [Staphylococcal Scalded Skin Syndrome]
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic Palmoplantar Keratoderma NEPPK Tylosis Unna-Thost Syndrome Keratoderma, Palmoplantar, Diffuse Ppkne Keratoderma, Nonepidermolytic Palmoplantar Diffuse Nonepidermolytic Palmomplantar Keratoderma Thost-Unna Syndrome Non-Epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type Diffuse Palmoplantar Keratoderma, Bothnian Type Krt1-Related Diffuse Nonepidermolytic Keratoderma Krt1-Related Diffuse Neppk Keratoderma, Palmoplantar, Non-Epidermolytic Nonepidermolytic Unna-Thost Disease Non-Epidermolytic Unna-Thost Disease Keratoderma, Palmoplantar, Nonepidermolytic Hyperkeratosis
Acantholytic Acanthoma
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic Right Ventricular Dysplasia 9 ARVD9 Arrhythmogenic Right Ventricular Cardiomyopathy 9 Arvc9 Familial Arrhythmogenic Right Ventricular Dysplasia 9 Dysplasia, Arrhythmogenic Right Ventricular, Type 9
Paraneoplastic Pemphigus
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Arrhythmogenic Right Ventricular Dysplasia 6 ARVD6 Arrhythmogenic Right Ventricular Cardiomyopathy 6 Arvc6 Familial Arrhythmogenic Right Ventricular Dysplasia 6 Arrhythmogenic Right Ventricular Dysplasia-6
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Lung Clear Cell Carcinoma
Cardiac Tuberculosis	Tuberculosis, Cardiovascular Cardiovascular Tuberculosis
Darier-White Disease	Keratosis Follicularis Darier Disease Darier'S Disease DAR DD Darier White Disease Darier Disease Acral Hemorrhagic Type Darier Disease Segmental Darier Disease, Acral Hemorrhagic Type Darier Disease, Segmental
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Arrhythmogenic Right Ventricular Dysplasia 1 Uhl Anomaly Arrhythmogenic Right Ventricular Cardiomyopathy 1 Arvc1 ARVD1 Cardiomyopathy Right Ventricular Dilated Dysplasia, Arrhythmogenic Right Ventricular, Type 1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	Arrhythmogenic Right Ventricular Dysplasia 2 ARVD2 Arrhythmogenic Right Ventricular Cardiomyopathy 2 Arvc2 Familial Arrhythmogenic Right Ventricular Dysplasia 2 Dysplasia, Arrhythmogenic Right Ventricular, Type 2
Palmoplantar Keratosis	Palmoplantar Keratoderma Keratosis Palmaris Et Plantaris Palmo-Plantar Keratodermas Keratoderma, Palmoplantar Keratoderma Palmoplantar Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Of Palms And Soles Palmoplantar Hyperkeratosis
Benign Chronic Pemphigus	Hailey-Hailey Disease Pemphigus, Benign Familial Familial Benign Pemphigus Benign Familial Pemphigus Familial Benign Chronic Pemphigus BCPM HHD Benign Chronic Familial Pemphigus Of Hailey-Hailey Pemphigus, Chronic, Benign
Dystonia 3, Torsion, X-Linked	X-Linked Dystonia-Parkinsonism DYT3 Xdp Lubag Dystonia-Parkinsonism, X-Linked Torsion Dystonia-Parkinsonism, Filipino Type Dyt-Taf1 X-Linked Dystonia-Parkinsonism Syndrome X-Linked Torsion Dystonia-Parkinsonism Syndrome Dystonia Musculorum Deformans X-Linked Dystonia-Parkinsonism/Lubag Lubag Syndrome Dystonia-3 Torsion Dystonia-Parkinsonism Filipino Type X-Linked Torsion Dystonia 3 Dystonia, Torsion, X-Linked, Type 3
Cardiac Sarcoidosis
Impetigo
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04015	DSC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04016	DSC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18352	Dsc3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24831	Dsc3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DSC3	MGD	MGI:1194993
Felis catus	DSC3	VGNC	VGNC:80438
Macaca mulatta	DSC3	VGNC	VGNC:71999
Rattus norvegicus	DSC3	RGD	RGD:1311782
Bos taurus	DSC3	VGNC	VGNC:28214
Canis familiaris	DSC3	VGNC	VGNC:53342
Others	DSC3	NCBI