1. Gene
  2. DSG2 - desmoglein 2 Gene

DSG2 - desmoglein 2 Gene

中文名称:桥粒芯糖蛋白 2

种属: Homo sapiens

同用名: HDGC; CDHF5

基因 ID: 1829 | 基因类型: protein coding

关于 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.

功能概要

该基因编码桥粒芯糖蛋白家族和钙粘蛋白细胞粘附分子蛋白质超家族的成员。桥粒核心糖蛋白是桥粒的钙结合跨膜糖蛋白成分,桥粒是上皮细胞、心肌细胞和其他细胞类型之间的细胞-细胞连接。编码的前原蛋白经过蛋白水解处理以生成成熟的糖蛋白。该基因与 18 号染色体上的其他桥粒芯糖蛋白基因家族成员存在于基因簇中。该基因的突变与致心律失常性右心室发育不良,家族性,10 有关。[RefSeq 提供,2016 年 1 月]

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 基因产物(1)

mRNA Protein Name
NM_001943.5 NP_001934.2 desmoglein-2 preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cell adhesion molecule binding IPI
IPI: 通过物理相互作用推断
17559062 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11790773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Purkinje myocyte development IMP
IMP: 通过突变表型推断
16505173 GOA
involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
IMP: 通过突变表型推断
16505173 GOA
involved in cell adhesion IDA
IDA: 通过直接分析推断
17559062 GOA
involved in desmosome organization IMP
IMP: 通过突变表型推断
16505173 GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules IDA
IDA: 通过直接分析推断
17559062 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
16505173 GOA
involved in regulation of ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
16505173 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in desmosome IDA
IDA: 通过直接分析推断
20859650 GOA
located in intercalated disc IDA
IDA: 通过直接分析推断
23381804 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17559062 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DSG2 蛋白结构

Cadherin

Cadherin: Cadherin domain (165 - 262)

Cadherin

Cadherin: Cadherin domain (281 - 377)

Cadherin

Cadherin: Cadherin domain (400 - 490)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (778 - 841)

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  • 1118 a.a.
蛋白主名 其他名称

desmoglein-2

cadherin family member 5

重组 DSG2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77917 DSG2/Desmoglein-2 Protein, Human (HEK293, His) Q14126 (A50-G609) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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