DSG2 - desmoglein 2 Gene

Homo sapiens

Also known as HDGC; CDHF5

Gene ID: 1829 | Gene type: protein coding

About DSG2

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,498,177-31,549,008 (from NCBI)

This gene has 7 transcripts (splice variants), 390 orthologues, 6 paralogues and is associated with 7 phenotypes. Broad expression in colon (RPKM 71.0), small intestine (RPKM 46.2) and 18 other tissues.

Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding Transmembrane Glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and Other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with Other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

DSG2 Products(1)

mRNA	Protein	Name
NM_001943.5	NP_001934.2	desmoglein-2 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cell adhesion molecule binding	IPI IPI: Inferred from physical interaction	17559062	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11790773	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Purkinje myocyte development	IMP IMP: Inferred from mutant phenotype	16505173	GOA
involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP IMP: Inferred from mutant phenotype	16505173	GOA
involved in cell adhesion	IDA IDA: Inferred from direct assay	17559062	GOA
involved in desmosome organization	IMP IMP: Inferred from mutant phenotype	16505173	GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules	IDA IDA: Inferred from direct assay	17559062	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	16505173	GOA
involved in regulation of ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	16505173	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in desmosome	IDA IDA: Inferred from direct assay	20859650	GOA
located in intercalated disc	IDA IDA: Inferred from direct assay	23381804	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17559062	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

DSG2 Protein Structure

Cadherin

Cadherin_C

0
200
400
600
800
1000
1118 a.a.

Protein Preferred Names

Protein Names

desmoglein-2

cadherin family member 5

Recombinant DSG2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77917	DSG2/Desmoglein-2 Protein, Human (HEK293, His)	Q14126 (A50-G609)	≥95%

Related Diseases

Diseases

Alias

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

Cardiomyopathy, Dilated, 1bb

CMD1BB	Dilated Cardiomyopathy 1bb
Cardiomyopathy, Dilated 1bb	Cardiomyopathy, Dilated, Type 1bb

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

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

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

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

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Pemphigus

Cardiac Conduction Defect

Sudden Cardiac Death	Cardiac Conduction Defect, Susceptibility To
SCD	Cardiac Conduction Abnormality
Death Sudden Cardiac	Cardiac Conduction Disease
Conduction Disorder Of The Heart

Pemphigus Foliaceus

Pemphigus Foliaceous	Pf
Superficial Pemphigus

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
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

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, 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

Keratosis

Actinic Keratosis

Hyperkeratosis

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

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

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, 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

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]

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

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

Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc

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]

Cardiac Sarcoidosis

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

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

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

Keratoacanthoma

Ka - [Keratoacanthoma]

Well-Differentiated Squamous Cell Carcinoma

Hyperlucent Lung

Lung, Hyperlucent

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

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

Intrinsic Cardiomyopathy

Spermatogenic Failure 24

SPGF24

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

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

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

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

Gastric Cancer

Stomach Cancer	Gastric Carcinoma
Stomach Carcinoma	Gastric Cancer, Somatic
Gastric Neoplasm	Carcinoma Of Stomach
Stomach Neoplasms	Malignant Neoplasm Of Stomach
Gastric Cancer Risk After H. Pylori Infection	Cancer Of The Stomach
Adult Stomach Cancer	Adult Stomach Carcinoma
GASC	Gastric Cancer Intestinal
Gastric Cancers	Gastric Carcinomas
Cancer, Gastric	Stomach Neoplasm
Malignant Neoplasm Of Body Of Stomach	Malignant Tumor Of Lesser Curve Of Stomach
Gastrocarcinoma Of Unspecified Site	Leather Bottle Stomach
Carcinoma Of Fundus Of Stomach	Cancer Of Fundus Of Stomach
Primary Malignant Neoplasm Of Body Of Stomach	Cancer Of Body Of Stomach
Primary Malignant Neoplasm Of Pyloric Antrum	Pyloric Antrum Cancer
Malignant Tumour Of Stomach

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

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

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04022	DSG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DSG2	VGNC	VGNC:72002
Mus musculus	DSG2	MGD	MGI:1196466
Bos taurus	DSG2	VGNC	VGNC:28221
Rattus norvegicus	DSG2	RGD	RGD:1311143
Felis catus	DSG2	VGNC	VGNC:61637
Canis familiaris	DSG2	VGNC	VGNC:40106
Others	DSG2	NCBI