DSC2 - desmocollin 2 Gene

Also Known as DG2; DSC3; CDHF2; ARVD11; DGII/III

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1824

About DSC2

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,058,840-31,102,421 (from NCBI)

This gene has 4 transcripts (splice variants), 232 orthologues, 6 paralogues and is associated with 5 phenotypes. Biased expression in esophagus (RPKM 95.9), colon (RPKM 34.9) and 8 other tissues.

Summary

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with Other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of Cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

DSC2 Products (4)

mRNA	Protein	Name
NM_001406506.1	NP_001393435.1	desmocollin-2 isoform 3
NM_001406507.1	NP_001393436.1	desmocollin-2 isoform 4
NM_004949.5	NP_004940.1	desmocollin-2 isoform Dsc2b preproprotein
NM_024422.6	NP_077740.1	desmocollin-2 isoform Dsc2a preproprotein

DSC2 Protein Structure

Cadherin_pro

Cadherin

Cadherin_C

0
200
400
600
800
901 a.a.

Protein Preferred Names	Protein Names
desmocollin-2	cadherin family member 2

Recombinant DSC2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76301	DSC2/Desmocollin-2 Protein, Human (HEK293, His, solution)	Q02487 (A28-R684)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
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
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form
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
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
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
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Nevus Of Ota	Nevus Fusculoceruleus Ophthalmomaxillaris
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
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
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
Pemphigus
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
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
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
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
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Arrhythmogenic Right Ventricular Dysplasia 12 ARVD12 Arrhythmogenic Right Ventricular Cardiomyopathy 12 Arvc12 Familial Arrhythmogenic Right Ventricular Dysplasia 12 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12
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
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
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
Cardiac Sarcoidosis
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, 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
Iga Pemphigus
Left Bundle Branch Hemiblock	Left Bundle Branch Block Left Bundle-Branch Block
Acantholytic Acanthoma
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
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
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
Lung Clear Cell Carcinoma
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]
Supine Hypotensive Syndrome	Maternal Hypotension Syndrome Antepartum Maternal Hypotension Syndrome Postpartum Maternal Hypotension Syndrome Maternal Hypotension Syndrome, Antepartum Condition Or Complication Maternal Hypotension Syndrome, Postpartum Condition Or Complication Maternal Hypotension Syndrome, Unspecified Trimester
Cardiac Tuberculosis	Tuberculosis, Cardiovascular Cardiovascular Tuberculosis
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
Adenoid Squamous Cell Carcinoma	Acantholytic Squamous Cell Carcinoma Adenocarcinoma With Squamous Metaplasia Adenoacanthoma Pseudoglandular Squamous Carcinoma
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Intrinsic Cardiomyopathy
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
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
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
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]
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt 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

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P11017	LNSMGQD		99.92%	Unkown
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-RS18351	Dsc2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24830	Dsc2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DSC2	VGNC	VGNC:71997
Bos taurus	DSC2	VGNC	VGNC:28213
Mus musculus	DSC2	MGD	MGI:103221
Rattus norvegicus	DSC2	RGD	RGD:1309426
Canis familiaris	DSC2	VGNC	VGNC:40101
Others	DSC2	NCBI