1. Gene
  2. DSC3 - desmocollin 3 Gene

DSC3 - desmocollin 3 Gene

Homo sapiens

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

Gene ID: 1825 | Gene type: protein coding

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

DSC3 Protein Structure

Cadherin_pro

Cadherin_pro: Cadherin prodomain like (29 - 112)

Cadherin

Cadherin: Cadherin domain (142 - 223)

Cadherin

Cadherin: Cadherin domain (248 - 345)

Cadherin

Cadherin: Cadherin domain (360 - 440)

Cadherin

Cadherin: Cadherin domain (478 - 568)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (787 - 895)

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  • 896 a.a.
Protein Preferred Names Protein Names

desmocollin-3

cadherin family member 3

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

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